---
_id: '691'
abstract:
- lang: eng
text: "Background: Transport protein particle (TRAPP) is a multisubunit complex
that regulates membrane trafficking through the Golgi apparatus. The clinical
phenotype associated with mutations in various TRAPP subunits has allowed elucidation
of their functions in specific tissues. The role of some subunits in human disease,
however, has not been fully established, and their functions remain uncertain.\r\n\r\nObjective:
We aimed to expand the range of neurodevelopmental disorders associated with mutations
in TRAPP subunits by exome sequencing of consanguineous families.\r\n\r\nMethods:
Linkage and homozygosity mapping and candidate gene analysis were used to identify
homozygous mutations in families. Patient fibroblasts were used to study splicing
defect and zebrafish to model the disease.\r\n\r\nResults: We identified six individuals
from three unrelated families with a founder homozygous splice mutation in TRAPPC6B,
encoding a core subunit of the complex TRAPP I. Patients manifested a neurodevelopmental
disorder characterised by microcephaly, epilepsy and autistic features, and showed
splicing defect. Zebrafish trappc6b morphants replicated the human phenotype,
displaying decreased head size and neuronal hyperexcitability, leading to a lower
seizure threshold.\r\n\r\nConclusion: This study provides clinical and functional
evidence of the role of TRAPPC6B in brain development and function."
article_processing_charge: No
article_type: original
author:
- first_name: Isaac
full_name: Marin Valencia, Isaac
last_name: Marin Valencia
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
- first_name: Anide
full_name: Johansen, Anide
last_name: Johansen
- first_name: Başak
full_name: Rosti, Başak
last_name: Rosti
- first_name: Mahmoud
full_name: Issa, Mahmoud
last_name: Issa
- first_name: Damir
full_name: Musaev, Damir
last_name: Musaev
- first_name: Gifty
full_name: Bhat, Gifty
last_name: Bhat
- first_name: Eric
full_name: Scott, Eric
last_name: Scott
- first_name: Jennifer
full_name: Silhavy, Jennifer
last_name: Silhavy
- first_name: Valentina
full_name: Stanley, Valentina
last_name: Stanley
- first_name: Rasim
full_name: Rosti, Rasim
last_name: Rosti
- first_name: Jeremy
full_name: Gleeson, Jeremy
last_name: Gleeson
- first_name: Farhad
full_name: Imam, Farhad
last_name: Imam
- first_name: Maha
full_name: Zaki, Maha
last_name: Zaki
- first_name: Joseph
full_name: Gleeson, Joseph
last_name: Gleeson
citation:
ama: Marin Valencia I, Novarino G, Johansen A, et al. A homozygous founder mutation
in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly
epilepsy and autistic features. Journal of Medical Genetics. 2018;55(1):48-54.
doi:10.1136/jmedgenet-2017-104627
apa: Marin Valencia, I., Novarino, G., Johansen, A., Rosti, B., Issa, M., Musaev,
D., … Gleeson, J. (2018). A homozygous founder mutation in TRAPPC6B associates
with a neurodevelopmental disorder characterised by microcephaly epilepsy and
autistic features. Journal of Medical Genetics. BMJ Publishing Group. https://doi.org/10.1136/jmedgenet-2017-104627
chicago: Marin Valencia, Isaac, Gaia Novarino, Anide Johansen, Başak Rosti, Mahmoud
Issa, Damir Musaev, Gifty Bhat, et al. “A Homozygous Founder Mutation in TRAPPC6B
Associates with a Neurodevelopmental Disorder Characterised by Microcephaly Epilepsy
and Autistic Features.” Journal of Medical Genetics. BMJ Publishing Group,
2018. https://doi.org/10.1136/jmedgenet-2017-104627.
ieee: I. Marin Valencia et al., “A homozygous founder mutation in TRAPPC6B
associates with a neurodevelopmental disorder characterised by microcephaly epilepsy
and autistic features,” Journal of Medical Genetics, vol. 55, no. 1. BMJ
Publishing Group, pp. 48–54, 2018.
ista: Marin Valencia I, Novarino G, Johansen A, Rosti B, Issa M, Musaev D, Bhat
G, Scott E, Silhavy J, Stanley V, Rosti R, Gleeson J, Imam F, Zaki M, Gleeson
J. 2018. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental
disorder characterised by microcephaly epilepsy and autistic features. Journal
of Medical Genetics. 55(1), 48–54.
mla: Marin Valencia, Isaac, et al. “A Homozygous Founder Mutation in TRAPPC6B Associates
with a Neurodevelopmental Disorder Characterised by Microcephaly Epilepsy and
Autistic Features.” Journal of Medical Genetics, vol. 55, no. 1, BMJ Publishing
Group, 2018, pp. 48–54, doi:10.1136/jmedgenet-2017-104627.
short: I. Marin Valencia, G. Novarino, A. Johansen, B. Rosti, M. Issa, D. Musaev,
G. Bhat, E. Scott, J. Silhavy, V. Stanley, R. Rosti, J. Gleeson, F. Imam, M. Zaki,
J. Gleeson, Journal of Medical Genetics 55 (2018) 48–54.
date_created: 2018-12-11T11:47:57Z
date_published: 2018-01-01T00:00:00Z
date_updated: 2023-10-16T09:55:43Z
day: '01'
department:
- _id: GaNo
doi: 10.1136/jmedgenet-2017-104627
external_id:
isi:
- '000418199800007'
pmid:
- '28626029'
intvolume: ' 55'
isi: 1
issue: '1'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056005/
month: '01'
oa: 1
oa_version: Submitted Version
page: 48 - 54
pmid: 1
project:
- _id: 254BA948-B435-11E9-9278-68D0E5697425
grant_number: '401299'
name: Probing development and reversibility of autism spectrum disorders
publication: Journal of Medical Genetics
publication_identifier:
issn:
- 0022-2593
publication_status: published
publisher: BMJ Publishing Group
publist_id: '7016'
quality_controlled: '1'
scopus_import: '1'
status: public
title: A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental
disorder characterised by microcephaly epilepsy and autistic features
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 55
year: '2018'
...
---
_id: '395'
abstract:
- lang: eng
text: 'Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping
with other neurological conditions. Despite the remarkable number of scientific
breakthroughs of the last 100 years, the treatment of neurodevelopmental disorders
(e.g. autism spectrum disorder, intellectual disability, epilepsy) remains a great
challenge. Recent advancements in geno mics, like whole-exome or whole-genome
sequencing, have enabled scientists to identify numerous mutations underlying
neurodevelopmental disorders. Given the few hundred risk genes that were discovered,
the etiological variability and the heterogeneous phenotypic outcomes, the need
for genotype -along with phenotype- based diagnosis of individual patients becomes
a requisite. Driven by this rationale, in a previous study our group described
mutations, identified via whole - exome sequencing, in the gene BCKDK – encoding
for a key regulator of branched chain amin o acid (BCAA) catabolism - as a cause
of ASD. Following up on the role of BCAAs, in the study described here we show
that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid transporter
localized mainly at the blood brain barrier (BBB), has an essential role in maintaining
normal levels of brain BCAAs. In mice, deletion of Slc7a5 from the endothelial
cells of the BBB leads to atypical brain amino acid profile, abnormal mRNA translation
and severe neurolo gical abnormalities. Additionally, deletion of Slc7a5 from
the neural progenitor cell population leads to microcephaly. Interestingly, we
demonstrate that BCAA intracerebroventricular administration ameliorates abnormal
behaviors in adult mutant mice. Furthermore, whole - exome sequencing of patients
diagnosed with neurological dis o r ders helped us identify several patients with
autistic traits, microcephaly and motor delay carrying deleterious homozygous
mutations in the SLC7A5 gene. In conclusion, our data elucidate a neurological
syndrome defined by SLC7A5 mutations and support an essential role for t he BCAA
s in human bra in function. Together with r ecent studies (described in chapter
two) that have successfully made the transition into clinical practice, our findings
on the role of B CAAs might have a crucial impact on the development of novel
individualized therapeutic strategies for ASD. '
acknowledged_ssus:
- _id: PreCl
- _id: EM-Fac
- _id: Bio
alternative_title:
- ISTA Thesis
article_processing_charge: No
author:
- first_name: Dora-Clara
full_name: Tarlungeanu, Dora-Clara
id: 2ABCE612-F248-11E8-B48F-1D18A9856A87
last_name: Tarlungeanu
citation:
ama: Tarlungeanu D-C. The branched chain amino acids in autism spectrum disorders
. 2018. doi:10.15479/AT:ISTA:th_992
apa: Tarlungeanu, D.-C. (2018). The branched chain amino acids in autism spectrum
disorders . Institute of Science and Technology Austria. https://doi.org/10.15479/AT:ISTA:th_992
chicago: Tarlungeanu, Dora-Clara. “The Branched Chain Amino Acids in Autism Spectrum
Disorders .” Institute of Science and Technology Austria, 2018. https://doi.org/10.15479/AT:ISTA:th_992.
ieee: D.-C. Tarlungeanu, “The branched chain amino acids in autism spectrum disorders
,” Institute of Science and Technology Austria, 2018.
ista: Tarlungeanu D-C. 2018. The branched chain amino acids in autism spectrum disorders
. Institute of Science and Technology Austria.
mla: Tarlungeanu, Dora-Clara. The Branched Chain Amino Acids in Autism Spectrum
Disorders . Institute of Science and Technology Austria, 2018, doi:10.15479/AT:ISTA:th_992.
short: D.-C. Tarlungeanu, The Branched Chain Amino Acids in Autism Spectrum Disorders
, Institute of Science and Technology Austria, 2018.
date_created: 2018-12-11T11:46:14Z
date_published: 2018-03-01T00:00:00Z
date_updated: 2023-09-07T12:38:59Z
day: '01'
ddc:
- '570'
- '616'
degree_awarded: PhD
department:
- _id: GaNo
doi: 10.15479/AT:ISTA:th_992
file:
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language:
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month: '03'
oa: 1
oa_version: Published Version
page: '88'
project:
- _id: 25473368-B435-11E9-9278-68D0E5697425
call_identifier: FWF
grant_number: F03523
name: Transmembrane Transporters in Health and Disease
publication_identifier:
issn:
- 2663-337X
publication_status: published
publisher: Institute of Science and Technology Austria
publist_id: '7434'
pubrep_id: '992'
related_material:
record:
- id: '1183'
relation: part_of_dissertation
status: public
status: public
supervisor:
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
title: 'The branched chain amino acids in autism spectrum disorders '
tmp:
image: /images/cc_by.png
legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode
name: Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
short: CC BY (4.0)
type: dissertation
user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1
year: '2018'
...
---
_id: '3'
abstract:
- lang: eng
text: SETD5 gene mutations have been identified as a frequent cause of idiopathic
intellectual disability. Here we show that Setd5-haploinsufficient mice present
developmental defects such as abnormal brain-to-body weight ratios and neural
crest defect-associated phenotypes. Furthermore, Setd5-mutant mice show impairments
in cognitive tasks, enhanced long-term potentiation, delayed ontogenetic profile
of ultrasonic vocalization, and behavioral inflexibility. Behavioral issues are
accompanied by abnormal expression of postsynaptic density proteins previously
associated with cognition. Our data additionally indicate that Setd5 regulates
RNA polymerase II dynamics and gene transcription via its interaction with the
Hdac3 and Paf1 complexes, findings potentially explaining the gene expression
defects observed in Setd5-haploinsufficient mice. Our results emphasize the decisive
role of Setd5 in a biological pathway found to be disrupted in humans with intellectual
disability and autism spectrum disorder.
acknowledged_ssus:
- _id: M-Shop
- _id: PreCl
acknowledgement: This work was supported by the Simons Foundation Autism Research
Initiative (grant 401299) to G.N. and the DFG (SPP1738 grant NO 1249) to K.-M.N.
article_processing_charge: No
article_type: original
author:
- first_name: Elena
full_name: Deliu, Elena
id: 37A40D7E-F248-11E8-B48F-1D18A9856A87
last_name: Deliu
orcid: 0000-0002-7370-5293
- first_name: Niccoló
full_name: Arecco, Niccoló
last_name: Arecco
- first_name: Jasmin
full_name: Morandell, Jasmin
id: 4739D480-F248-11E8-B48F-1D18A9856A87
last_name: Morandell
- first_name: Christoph
full_name: Dotter, Christoph
id: 4C66542E-F248-11E8-B48F-1D18A9856A87
last_name: Dotter
orcid: 0000-0002-9033-9096
- first_name: Ximena
full_name: Contreras, Ximena
id: 475990FE-F248-11E8-B48F-1D18A9856A87
last_name: Contreras
- first_name: Charles
full_name: Girardot, Charles
last_name: Girardot
- first_name: Eva
full_name: Käsper, Eva
last_name: Käsper
- first_name: Alena
full_name: Kozlova, Alena
id: C50A9596-02D0-11E9-976E-E38CFE5CBC1D
last_name: Kozlova
- first_name: Kasumi
full_name: Kishi, Kasumi
id: 3065DFC4-F248-11E8-B48F-1D18A9856A87
last_name: Kishi
- first_name: Ilaria
full_name: Chiaradia, Ilaria
id: B6467F20-02D0-11E9-BDA5-E960C241894A
last_name: Chiaradia
orcid: 0000-0002-9529-4464
- first_name: Kyung
full_name: Noh, Kyung
last_name: Noh
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
citation:
ama: Deliu E, Arecco N, Morandell J, et al. Haploinsufficiency of the intellectual
disability gene SETD5 disturbs developmental gene expression and cognition. Nature
Neuroscience. 2018;21(12):1717-1727. doi:10.1038/s41593-018-0266-2
apa: Deliu, E., Arecco, N., Morandell, J., Dotter, C., Contreras, X., Girardot,
C., … Novarino, G. (2018). Haploinsufficiency of the intellectual disability gene
SETD5 disturbs developmental gene expression and cognition. Nature Neuroscience.
Nature Publishing Group. https://doi.org/10.1038/s41593-018-0266-2
chicago: Deliu, Elena, Niccoló Arecco, Jasmin Morandell, Christoph Dotter, Ximena
Contreras, Charles Girardot, Eva Käsper, et al. “Haploinsufficiency of the Intellectual
Disability Gene SETD5 Disturbs Developmental Gene Expression and Cognition.” Nature
Neuroscience. Nature Publishing Group, 2018. https://doi.org/10.1038/s41593-018-0266-2.
ieee: E. Deliu et al., “Haploinsufficiency of the intellectual disability
gene SETD5 disturbs developmental gene expression and cognition,” Nature Neuroscience,
vol. 21, no. 12. Nature Publishing Group, pp. 1717–1727, 2018.
ista: Deliu E, Arecco N, Morandell J, Dotter C, Contreras X, Girardot C, Käsper
E, Kozlova A, Kishi K, Chiaradia I, Noh K, Novarino G. 2018. Haploinsufficiency
of the intellectual disability gene SETD5 disturbs developmental gene expression
and cognition. Nature Neuroscience. 21(12), 1717–1727.
mla: Deliu, Elena, et al. “Haploinsufficiency of the Intellectual Disability Gene
SETD5 Disturbs Developmental Gene Expression and Cognition.” Nature Neuroscience,
vol. 21, no. 12, Nature Publishing Group, 2018, pp. 1717–27, doi:10.1038/s41593-018-0266-2.
short: E. Deliu, N. Arecco, J. Morandell, C. Dotter, X. Contreras, C. Girardot,
E. Käsper, A. Kozlova, K. Kishi, I. Chiaradia, K. Noh, G. Novarino, Nature Neuroscience
21 (2018) 1717–1727.
date_created: 2018-12-11T11:44:05Z
date_published: 2018-11-19T00:00:00Z
date_updated: 2024-03-27T23:30:44Z
day: '19'
ddc:
- '570'
department:
- _id: GaNo
- _id: EdHa
doi: 10.1038/s41593-018-0266-2
external_id:
isi:
- '000451324700010'
file:
- access_level: open_access
checksum: 60abd0f05b7cdc08a6b0ec460884084f
content_type: application/pdf
creator: dernst
date_created: 2019-04-09T07:41:57Z
date_updated: 2020-07-14T12:45:58Z
file_id: '6255'
file_name: 2017_NatureNeuroscience_Deliu.pdf
file_size: 8167169
relation: main_file
file_date_updated: 2020-07-14T12:45:58Z
has_accepted_license: '1'
intvolume: ' 21'
isi: 1
issue: '12'
language:
- iso: eng
month: '11'
oa: 1
oa_version: Submitted Version
page: 1717 - 1727
project:
- _id: 254BA948-B435-11E9-9278-68D0E5697425
grant_number: '401299'
name: Probing development and reversibility of autism spectrum disorders
publication: Nature Neuroscience
publication_status: published
publisher: Nature Publishing Group
publist_id: '8054'
pubrep_id: '1071'
quality_controlled: '1'
related_material:
link:
- description: News on IST Homepage
relation: press_release
url: https://ist.ac.at/en/news/mutation-that-causes-autism-and-intellectual-disability-makes-brain-less-flexible/
record:
- id: '6074'
relation: popular_science
status: public
- id: '12364'
relation: dissertation_contains
status: public
scopus_import: '1'
status: public
title: Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental
gene expression and cognition
type: journal_article
user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1
volume: 21
year: '2018'
...
---
_id: '540'
abstract:
- lang: eng
text: RNA-dependent RNA polymerases (RdRps) play a key role in the life cycle of
RNA viruses and impact their immunobiology. The arenavirus lymphocytic choriomeningitis
virus (LCMV) strain Clone 13 provides a benchmark model for studying chronic infection.
A major genetic determinant for its ability to persist maps to a single amino
acid exchange in the viral L protein, which exhibits RdRp activity, yet its functional
consequences remain elusive. To unravel the L protein interactions with the host
proteome, we engineered infectious L protein-tagged LCMV virions by reverse genetics.
A subsequent mass-spectrometric analysis of L protein pulldowns from infected
human cells revealed a comprehensive network of interacting host proteins. The
obtained LCMV L protein interactome was bioinformatically integrated with known
host protein interactors of RdRps from other RNA viruses, emphasizing interconnected
modules of human proteins. Functional characterization of selected interactors
highlighted proviral (DDX3X) as well as antiviral (NKRF, TRIM21) host factors.
To corroborate these findings, we infected Trim21-/-mice with LCMV and found impaired
virus control in chronic infection. These results provide insights into the complex
interactions of the arenavirus LCMV and other viral RdRps with the host proteome
and contribute to a better molecular understanding of how chronic viruses interact
with their host.
article_number: e1006758
author:
- first_name: Kseniya
full_name: Khamina, Kseniya
last_name: Khamina
- first_name: Alexander
full_name: Lercher, Alexander
last_name: Lercher
- first_name: Michael
full_name: Caldera, Michael
last_name: Caldera
- first_name: Christopher
full_name: Schliehe, Christopher
last_name: Schliehe
- first_name: Bojan
full_name: Vilagos, Bojan
last_name: Vilagos
- first_name: Mehmet
full_name: Sahin, Mehmet
last_name: Sahin
- first_name: Lindsay
full_name: Kosack, Lindsay
last_name: Kosack
- first_name: Anannya
full_name: Bhattacharya, Anannya
last_name: Bhattacharya
- first_name: Peter
full_name: Májek, Peter
last_name: Májek
- first_name: Alexey
full_name: Stukalov, Alexey
last_name: Stukalov
- first_name: Roberto
full_name: Sacco, Roberto
id: 42C9F57E-F248-11E8-B48F-1D18A9856A87
last_name: Sacco
- first_name: Leo
full_name: James, Leo
last_name: James
- first_name: Daniel
full_name: Pinschewer, Daniel
last_name: Pinschewer
- first_name: Keiryn
full_name: Bennett, Keiryn
last_name: Bennett
- first_name: Jörg
full_name: Menche, Jörg
last_name: Menche
- first_name: Andreas
full_name: Bergthaler, Andreas
last_name: Bergthaler
citation:
ama: Khamina K, Lercher A, Caldera M, et al. Characterization of host proteins interacting
with the lymphocytic choriomeningitis virus L protein. PLoS Pathogens.
2017;13(12). doi:10.1371/journal.ppat.1006758
apa: Khamina, K., Lercher, A., Caldera, M., Schliehe, C., Vilagos, B., Sahin, M.,
… Bergthaler, A. (2017). Characterization of host proteins interacting with the
lymphocytic choriomeningitis virus L protein. PLoS Pathogens. Public Library
of Science. https://doi.org/10.1371/journal.ppat.1006758
chicago: Khamina, Kseniya, Alexander Lercher, Michael Caldera, Christopher Schliehe,
Bojan Vilagos, Mehmet Sahin, Lindsay Kosack, et al. “Characterization of Host
Proteins Interacting with the Lymphocytic Choriomeningitis Virus L Protein.” PLoS
Pathogens. Public Library of Science, 2017. https://doi.org/10.1371/journal.ppat.1006758.
ieee: K. Khamina et al., “Characterization of host proteins interacting with
the lymphocytic choriomeningitis virus L protein,” PLoS Pathogens, vol.
13, no. 12. Public Library of Science, 2017.
ista: Khamina K, Lercher A, Caldera M, Schliehe C, Vilagos B, Sahin M, Kosack L,
Bhattacharya A, Májek P, Stukalov A, Sacco R, James L, Pinschewer D, Bennett K,
Menche J, Bergthaler A. 2017. Characterization of host proteins interacting with
the lymphocytic choriomeningitis virus L protein. PLoS Pathogens. 13(12), e1006758.
mla: Khamina, Kseniya, et al. “Characterization of Host Proteins Interacting with
the Lymphocytic Choriomeningitis Virus L Protein.” PLoS Pathogens, vol.
13, no. 12, e1006758, Public Library of Science, 2017, doi:10.1371/journal.ppat.1006758.
short: K. Khamina, A. Lercher, M. Caldera, C. Schliehe, B. Vilagos, M. Sahin, L.
Kosack, A. Bhattacharya, P. Májek, A. Stukalov, R. Sacco, L. James, D. Pinschewer,
K. Bennett, J. Menche, A. Bergthaler, PLoS Pathogens 13 (2017).
date_created: 2018-12-11T11:47:03Z
date_published: 2017-12-01T00:00:00Z
date_updated: 2021-01-12T08:01:48Z
day: '01'
ddc:
- '576'
- '616'
department:
- _id: GaNo
doi: 10.1371/journal.ppat.1006758
file:
- access_level: open_access
checksum: 1aa20f19a1e90664fadce6e7d5284fdc
content_type: application/pdf
creator: system
date_created: 2018-12-12T10:12:26Z
date_updated: 2020-07-14T12:46:44Z
file_id: '4944'
file_name: IST-2018-931-v1+1_journal.ppat.1006758.pdf
file_size: 4106772
relation: main_file
file_date_updated: 2020-07-14T12:46:44Z
has_accepted_license: '1'
intvolume: ' 13'
issue: '12'
language:
- iso: eng
month: '12'
oa: 1
oa_version: Published Version
publication: PLoS Pathogens
publication_identifier:
issn:
- '15537366'
publication_status: published
publisher: Public Library of Science
publist_id: '7276'
pubrep_id: '931'
quality_controlled: '1'
scopus_import: 1
status: public
title: Characterization of host proteins interacting with the lymphocytic choriomeningitis
virus L protein
tmp:
image: /images/cc_by.png
legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode
name: Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
short: CC BY (4.0)
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 13
year: '2017'
...
---
_id: '623'
abstract:
- lang: eng
text: Genetic factors might be largely responsible for the development of autism
spectrum disorder (ASD) that alone or in combination with specific environmental
risk factors trigger the pathology. Multiple mutations identified in ASD patients
that impair synaptic function in the central nervous system are well studied in
animal models. How these mutations might interact with other risk factors is not
fully understood though. Additionally, how systems outside of the brain are altered
in the context of ASD is an emerging area of research. Extracerebral influences
on the physiology could begin in utero and contribute to changes in the brain
and in the development of other body systems and further lead to epigenetic changes.
Therefore, multiple recent studies have aimed at elucidating the role of gene-environment
interactions in ASD. Here we provide an overview on the extracerebral systems
that might play an important associative role in ASD and review evidence regarding
the potential roles of inflammation, trace metals, metabolism, genetic susceptibility,
enteric nervous system function and the microbiota of the gastrointestinal (GI)
tract on the development of endophenotypes in animal models of ASD. By influencing
environmental conditions, it might be possible to reduce or limit the severity
of ASD pathology.
alternative_title:
- ADVSANAT
author:
- first_name: Elisa
full_name: Hill Yardin, Elisa
last_name: Hill Yardin
- first_name: Sonja
full_name: Mckeown, Sonja
last_name: Mckeown
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
- first_name: Andreas
full_name: Grabrucker, Andreas
last_name: Grabrucker
citation:
ama: 'Hill Yardin E, Mckeown S, Novarino G, Grabrucker A. Extracerebral dysfunction
in animal models of autism spectrum disorder. In: Schmeisser M, Boekers T, eds.
Translational Anatomy and Cell Biology of Autism Spectrum Disorder. Vol
224. Advances in Anatomy Embryology and Cell Biology. Springer; 2017:159-187.
doi:10.1007/978-3-319-52498-6_9'
apa: Hill Yardin, E., Mckeown, S., Novarino, G., & Grabrucker, A. (2017). Extracerebral
dysfunction in animal models of autism spectrum disorder. In M. Schmeisser &
T. Boekers (Eds.), Translational Anatomy and Cell Biology of Autism Spectrum
Disorder (Vol. 224, pp. 159–187). Springer. https://doi.org/10.1007/978-3-319-52498-6_9
chicago: Hill Yardin, Elisa, Sonja Mckeown, Gaia Novarino, and Andreas Grabrucker.
“Extracerebral Dysfunction in Animal Models of Autism Spectrum Disorder.” In Translational
Anatomy and Cell Biology of Autism Spectrum Disorder, edited by Michael Schmeisser
and Tobias Boekers, 224:159–87. Advances in Anatomy Embryology and Cell Biology.
Springer, 2017. https://doi.org/10.1007/978-3-319-52498-6_9.
ieee: E. Hill Yardin, S. Mckeown, G. Novarino, and A. Grabrucker, “Extracerebral
dysfunction in animal models of autism spectrum disorder,” in Translational
Anatomy and Cell Biology of Autism Spectrum Disorder, vol. 224, M. Schmeisser
and T. Boekers, Eds. Springer, 2017, pp. 159–187.
ista: 'Hill Yardin E, Mckeown S, Novarino G, Grabrucker A. 2017.Extracerebral dysfunction
in animal models of autism spectrum disorder. In: Translational Anatomy and Cell
Biology of Autism Spectrum Disorder. ADVSANAT, vol. 224, 159–187.'
mla: Hill Yardin, Elisa, et al. “Extracerebral Dysfunction in Animal Models of Autism
Spectrum Disorder.” Translational Anatomy and Cell Biology of Autism Spectrum
Disorder, edited by Michael Schmeisser and Tobias Boekers, vol. 224, Springer,
2017, pp. 159–87, doi:10.1007/978-3-319-52498-6_9.
short: E. Hill Yardin, S. Mckeown, G. Novarino, A. Grabrucker, in:, M. Schmeisser,
T. Boekers (Eds.), Translational Anatomy and Cell Biology of Autism Spectrum Disorder,
Springer, 2017, pp. 159–187.
date_created: 2018-12-11T11:47:33Z
date_published: 2017-05-28T00:00:00Z
date_updated: 2021-01-12T08:06:46Z
day: '28'
department:
- _id: GaNo
doi: 10.1007/978-3-319-52498-6_9
editor:
- first_name: Michael
full_name: Schmeisser, Michael
last_name: Schmeisser
- first_name: Tobias
full_name: Boekers, Tobias
last_name: Boekers
intvolume: ' 224'
language:
- iso: eng
month: '05'
oa_version: None
page: 159 - 187
publication: Translational Anatomy and Cell Biology of Autism Spectrum Disorder
publication_identifier:
isbn:
- 978-3-319-52496-2
issn:
- '03015556'
publication_status: published
publisher: Springer
publist_id: '7177'
quality_controlled: '1'
scopus_import: 1
series_title: Advances in Anatomy Embryology and Cell Biology
status: public
title: Extracerebral dysfunction in animal models of autism spectrum disorder
type: book_chapter
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 224
year: '2017'
...
---
_id: '634'
abstract:
- lang: eng
text: As autism spectrum disorder (ASD) is largely regarded as a neurodevelopmental
condition, long-time consensus was that its hallmark features are irreversible.
However, several studies from recent years using defined mouse models of ASD have
provided clear evidence that in mice neurobiological and behavioural alterations
can be ameliorated or even reversed by genetic restoration or pharmacological
treatment either before or after symptom onset. Here, we review findings on genetic
and pharmacological reversibility of phenotypes in mouse models of ASD. Our review
should give a comprehensive overview on both aspects and encourage future studies
to better understand the underlying molecular mechanisms that might be translatable
from animals to humans.
alternative_title:
- ADVSANAT
author:
- first_name: Jan
full_name: Schroeder, Jan
last_name: Schroeder
- first_name: Elena
full_name: Deliu, Elena
id: 37A40D7E-F248-11E8-B48F-1D18A9856A87
last_name: Deliu
orcid: 0000-0002-7370-5293
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
- first_name: Michael
full_name: Schmeisser, Michael
last_name: Schmeisser
citation:
ama: 'Schroeder J, Deliu E, Novarino G, Schmeisser M. Genetic and pharmacological
reversibility of phenotypes in mouse models of autism spectrum disorder. In: Schmeisser
M, Boekers T, eds. Translational Anatomy and Cell Biology of Autism Spectrum
Disorder. Vol 224. Advances in Anatomy Embryology and Cell Biology. Springer;
2017:189-211. doi:10.1007/978-3-319-52498-6_10'
apa: Schroeder, J., Deliu, E., Novarino, G., & Schmeisser, M. (2017). Genetic
and pharmacological reversibility of phenotypes in mouse models of autism spectrum
disorder. In M. Schmeisser & T. Boekers (Eds.), Translational Anatomy and
Cell Biology of Autism Spectrum Disorder (Vol. 224, pp. 189–211). Springer.
https://doi.org/10.1007/978-3-319-52498-6_10
chicago: Schroeder, Jan, Elena Deliu, Gaia Novarino, and Michael Schmeisser. “Genetic
and Pharmacological Reversibility of Phenotypes in Mouse Models of Autism Spectrum
Disorder.” In Translational Anatomy and Cell Biology of Autism Spectrum Disorder,
edited by Michael Schmeisser and Tobias Boekers, 224:189–211. Advances in Anatomy
Embryology and Cell Biology. Springer, 2017. https://doi.org/10.1007/978-3-319-52498-6_10.
ieee: J. Schroeder, E. Deliu, G. Novarino, and M. Schmeisser, “Genetic and pharmacological
reversibility of phenotypes in mouse models of autism spectrum disorder,” in Translational
Anatomy and Cell Biology of Autism Spectrum Disorder, vol. 224, M. Schmeisser
and T. Boekers, Eds. Springer, 2017, pp. 189–211.
ista: 'Schroeder J, Deliu E, Novarino G, Schmeisser M. 2017.Genetic and pharmacological
reversibility of phenotypes in mouse models of autism spectrum disorder. In: Translational
Anatomy and Cell Biology of Autism Spectrum Disorder. ADVSANAT, vol. 224, 189–211.'
mla: Schroeder, Jan, et al. “Genetic and Pharmacological Reversibility of Phenotypes
in Mouse Models of Autism Spectrum Disorder.” Translational Anatomy and Cell
Biology of Autism Spectrum Disorder, edited by Michael Schmeisser and Tobias
Boekers, vol. 224, Springer, 2017, pp. 189–211, doi:10.1007/978-3-319-52498-6_10.
short: J. Schroeder, E. Deliu, G. Novarino, M. Schmeisser, in:, M. Schmeisser, T.
Boekers (Eds.), Translational Anatomy and Cell Biology of Autism Spectrum Disorder,
Springer, 2017, pp. 189–211.
date_created: 2018-12-11T11:47:37Z
date_published: 2017-05-28T00:00:00Z
date_updated: 2021-01-12T08:07:08Z
day: '28'
department:
- _id: GaNo
doi: 10.1007/978-3-319-52498-6_10
editor:
- first_name: Michael
full_name: Schmeisser, Michael
last_name: Schmeisser
- first_name: Tobias
full_name: Boekers, Tobias
last_name: Boekers
intvolume: ' 224'
language:
- iso: eng
month: '05'
oa_version: None
page: 189 - 211
project:
- _id: 25473368-B435-11E9-9278-68D0E5697425
call_identifier: FWF
grant_number: F03523
name: Transmembrane Transporters in Health and Disease
publication: Translational Anatomy and Cell Biology of Autism Spectrum Disorder
publication_identifier:
eisbn:
- 978-3-319-52498-6
publication_status: published
publisher: Springer
publist_id: '7156'
quality_controlled: '1'
scopus_import: 1
series_title: Advances in Anatomy Embryology and Cell Biology
status: public
title: Genetic and pharmacological reversibility of phenotypes in mouse models of
autism spectrum disorder
type: book_chapter
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 224
year: '2017'
...
---
_id: '656'
abstract:
- lang: eng
text: Human neurons transplanted into a mouse model for Alzheimer’s disease show
human-specific vulnerability to β-amyloid plaques and may help to identify new
therapeutic targets.
article_number: eaam9867
author:
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
citation:
ama: Novarino G. Modeling Alzheimer’s disease in mice with human neurons. Science
Translational Medicine. 2017;9(381). doi:10.1126/scitranslmed.aam9867
apa: Novarino, G. (2017). Modeling Alzheimer’s disease in mice with human neurons.
Science Translational Medicine. American Association for the Advancement
of Science. https://doi.org/10.1126/scitranslmed.aam9867
chicago: Novarino, Gaia. “Modeling Alzheimer’s Disease in Mice with Human Neurons.”
Science Translational Medicine. American Association for the Advancement
of Science, 2017. https://doi.org/10.1126/scitranslmed.aam9867.
ieee: G. Novarino, “Modeling Alzheimer’s disease in mice with human neurons,” Science
Translational Medicine, vol. 9, no. 381. American Association for the Advancement
of Science, 2017.
ista: Novarino G. 2017. Modeling Alzheimer’s disease in mice with human neurons.
Science Translational Medicine. 9(381), eaam9867.
mla: Novarino, Gaia. “Modeling Alzheimer’s Disease in Mice with Human Neurons.”
Science Translational Medicine, vol. 9, no. 381, eaam9867, American Association
for the Advancement of Science, 2017, doi:10.1126/scitranslmed.aam9867.
short: G. Novarino, Science Translational Medicine 9 (2017).
date_created: 2018-12-11T11:47:45Z
date_published: 2017-03-15T00:00:00Z
date_updated: 2021-01-12T08:07:59Z
day: '15'
department:
- _id: GaNo
doi: 10.1126/scitranslmed.aam9867
intvolume: ' 9'
issue: '381'
language:
- iso: eng
month: '03'
oa_version: None
publication: Science Translational Medicine
publication_identifier:
issn:
- '19466234'
publication_status: published
publisher: American Association for the Advancement of Science
publist_id: '7079'
quality_controlled: '1'
scopus_import: 1
status: public
title: Modeling Alzheimer's disease in mice with human neurons
type: journal_article
user_id: 4435EBFC-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2017'
...
---
_id: '667'
abstract:
- lang: eng
text: Perinatal exposure to penicillin may result in longlasting gut and behavioral
changes.
article_number: '2786'
author:
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
citation:
ama: Novarino G. The antisocial side of antibiotics. Science Translational Medicine.
2017;9(387). doi:10.1126/scitranslmed.aan2786
apa: Novarino, G. (2017). The antisocial side of antibiotics. Science Translational
Medicine. American Association for the Advancement of Science. https://doi.org/10.1126/scitranslmed.aan2786
chicago: Novarino, Gaia. “The Antisocial Side of Antibiotics.” Science Translational
Medicine. American Association for the Advancement of Science, 2017. https://doi.org/10.1126/scitranslmed.aan2786.
ieee: G. Novarino, “The antisocial side of antibiotics,” Science Translational
Medicine, vol. 9, no. 387. American Association for the Advancement of Science,
2017.
ista: Novarino G. 2017. The antisocial side of antibiotics. Science Translational
Medicine. 9(387), 2786.
mla: Novarino, Gaia. “The Antisocial Side of Antibiotics.” Science Translational
Medicine, vol. 9, no. 387, 2786, American Association for the Advancement
of Science, 2017, doi:10.1126/scitranslmed.aan2786.
short: G. Novarino, Science Translational Medicine 9 (2017).
date_created: 2018-12-11T11:47:48Z
date_published: 2017-04-26T00:00:00Z
date_updated: 2021-01-12T08:08:30Z
day: '26'
department:
- _id: GaNo
doi: 10.1126/scitranslmed.aan2786
intvolume: ' 9'
issue: '387'
language:
- iso: eng
month: '04'
oa_version: None
publication: Science Translational Medicine
publication_identifier:
issn:
- '19466234'
publication_status: published
publisher: American Association for the Advancement of Science
publist_id: '7060'
quality_controlled: '1'
scopus_import: 1
status: public
title: The antisocial side of antibiotics
type: journal_article
user_id: 4435EBFC-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2017'
...
---
_id: '689'
abstract:
- lang: eng
text: Rett syndrome modeling in monkey mirrors the human disorder.
article_number: eaan8196
author:
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
citation:
ama: Novarino G. Rett syndrome modeling goes simian. Science Translational Medicine.
2017;9(393). doi:10.1126/scitranslmed.aan8196
apa: Novarino, G. (2017). Rett syndrome modeling goes simian. Science Translational
Medicine. American Association for the Advancement of Science. https://doi.org/10.1126/scitranslmed.aan8196
chicago: Novarino, Gaia. “Rett Syndrome Modeling Goes Simian.” Science Translational
Medicine. American Association for the Advancement of Science, 2017. https://doi.org/10.1126/scitranslmed.aan8196.
ieee: G. Novarino, “Rett syndrome modeling goes simian,” Science Translational
Medicine, vol. 9, no. 393. American Association for the Advancement of Science,
2017.
ista: Novarino G. 2017. Rett syndrome modeling goes simian. Science Translational
Medicine. 9(393), eaan8196.
mla: Novarino, Gaia. “Rett Syndrome Modeling Goes Simian.” Science Translational
Medicine, vol. 9, no. 393, eaan8196, American Association for the Advancement
of Science, 2017, doi:10.1126/scitranslmed.aan8196.
short: G. Novarino, Science Translational Medicine 9 (2017).
date_created: 2018-12-11T11:47:56Z
date_published: 2017-06-07T00:00:00Z
date_updated: 2021-01-12T08:09:29Z
day: '07'
department:
- _id: GaNo
doi: 10.1126/scitranslmed.aan8196
intvolume: ' 9'
issue: '393'
language:
- iso: eng
month: '06'
oa_version: None
publication: Science Translational Medicine
publication_identifier:
issn:
- '19466234'
publication_status: published
publisher: American Association for the Advancement of Science
publist_id: '7019'
quality_controlled: '1'
scopus_import: 1
status: public
title: Rett syndrome modeling goes simian
type: journal_article
user_id: 4435EBFC-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2017'
...
---
_id: '702'
abstract:
- lang: eng
text: "Leading autism-associated mutation in mouse partially mimics human disorder.\r\n\r\n"
author:
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
citation:
ama: Novarino G. The riddle of CHD8 haploinsufficiency in autism spectrum disorder.
Science Translational Medicine. 2017;9(399):eaao0972. doi:10.1126/scitranslmed.aao0972
apa: Novarino, G. (2017). The riddle of CHD8 haploinsufficiency in autism spectrum
disorder. Science Translational Medicine. American Association for the
Advancement of Science. https://doi.org/10.1126/scitranslmed.aao0972
chicago: Novarino, Gaia. “The Riddle of CHD8 Haploinsufficiency in Autism Spectrum
Disorder.” Science Translational Medicine. American Association for the
Advancement of Science, 2017. https://doi.org/10.1126/scitranslmed.aao0972.
ieee: G. Novarino, “The riddle of CHD8 haploinsufficiency in autism spectrum disorder,”
Science Translational Medicine, vol. 9, no. 399. American Association for
the Advancement of Science, p. eaao0972, 2017.
ista: Novarino G. 2017. The riddle of CHD8 haploinsufficiency in autism spectrum
disorder. Science Translational Medicine. 9(399), eaao0972.
mla: Novarino, Gaia. “The Riddle of CHD8 Haploinsufficiency in Autism Spectrum Disorder.”
Science Translational Medicine, vol. 9, no. 399, American Association for
the Advancement of Science, 2017, p. eaao0972, doi:10.1126/scitranslmed.aao0972.
short: G. Novarino, Science Translational Medicine 9 (2017) eaao0972.
date_created: 2018-12-11T11:48:01Z
date_published: 2017-07-19T00:00:00Z
date_updated: 2021-01-12T08:11:31Z
day: '19'
department:
- _id: GaNo
doi: 10.1126/scitranslmed.aao0972
intvolume: ' 9'
issue: '399'
language:
- iso: eng
month: '07'
oa_version: None
page: eaao0972
publication: Science Translational Medicine
publication_identifier:
issn:
- '19466234'
publication_status: published
publisher: American Association for the Advancement of Science
publist_id: '6993'
quality_controlled: '1'
scopus_import: 1
status: public
title: The riddle of CHD8 haploinsufficiency in autism spectrum disorder
type: journal_article
user_id: 4435EBFC-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2017'
...
---
_id: '713'
abstract:
- lang: eng
text: To determine the dynamics of allelic-specific expression during mouse development,
we analyzed RNA-seq data from 23 F1 tissues from different developmental stages,
including 19 female tissues allowing X chromosome inactivation (XCI) escapers
to also be detected. We demonstrate that allelic expression arising from genetic
or epigenetic differences is highly tissue-specific. We find that tissue-specific
strain-biased gene expression may be regulated by tissue-specific enhancers or
by post-transcriptional differences in stability between the alleles. We also
find that escape from X-inactivation is tissue-specific, with leg muscle showing
an unexpectedly high rate of XCI escapers. By surveying a range of tissues during
development, and performing extensive validation, we are able to provide a high
confidence list of mouse imprinted genes including 18 novel genes. This shows
that cluster size varies dynamically during development and can be substantially
larger than previously thought, with the Igf2r cluster extending over 10 Mb in
placenta.
article_number: e25125
author:
- first_name: Daniel
full_name: Andergassen, Daniel
last_name: Andergassen
- first_name: Christoph
full_name: Dotter, Christoph
id: 4C66542E-F248-11E8-B48F-1D18A9856A87
last_name: Dotter
- first_name: Dyniel
full_name: Wenzel, Dyniel
last_name: Wenzel
- first_name: Verena
full_name: Sigl, Verena
last_name: Sigl
- first_name: Philipp
full_name: Bammer, Philipp
last_name: Bammer
- first_name: Markus
full_name: Muckenhuber, Markus
last_name: Muckenhuber
- first_name: Daniela
full_name: Mayer, Daniela
last_name: Mayer
- first_name: Tomasz
full_name: Kulinski, Tomasz
last_name: Kulinski
- first_name: Hans
full_name: Theussl, Hans
last_name: Theussl
- first_name: Josef
full_name: Penninger, Josef
last_name: Penninger
- first_name: Christoph
full_name: Bock, Christoph
last_name: Bock
- first_name: Denise
full_name: Barlow, Denise
last_name: Barlow
- first_name: Florian
full_name: Pauler, Florian
id: 48EA0138-F248-11E8-B48F-1D18A9856A87
last_name: Pauler
- first_name: Quanah
full_name: Hudson, Quanah
last_name: Hudson
citation:
ama: Andergassen D, Dotter C, Wenzel D, et al. Mapping the mouse Allelome reveals
tissue specific regulation of allelic expression. eLife. 2017;6. doi:10.7554/eLife.25125
apa: Andergassen, D., Dotter, C., Wenzel, D., Sigl, V., Bammer, P., Muckenhuber,
M., … Hudson, Q. (2017). Mapping the mouse Allelome reveals tissue specific regulation
of allelic expression. ELife. eLife Sciences Publications. https://doi.org/10.7554/eLife.25125
chicago: Andergassen, Daniel, Christoph Dotter, Dyniel Wenzel, Verena Sigl, Philipp
Bammer, Markus Muckenhuber, Daniela Mayer, et al. “Mapping the Mouse Allelome
Reveals Tissue Specific Regulation of Allelic Expression.” ELife. eLife
Sciences Publications, 2017. https://doi.org/10.7554/eLife.25125.
ieee: D. Andergassen et al., “Mapping the mouse Allelome reveals tissue specific
regulation of allelic expression,” eLife, vol. 6. eLife Sciences Publications,
2017.
ista: Andergassen D, Dotter C, Wenzel D, Sigl V, Bammer P, Muckenhuber M, Mayer
D, Kulinski T, Theussl H, Penninger J, Bock C, Barlow D, Pauler F, Hudson Q. 2017.
Mapping the mouse Allelome reveals tissue specific regulation of allelic expression.
eLife. 6, e25125.
mla: Andergassen, Daniel, et al. “Mapping the Mouse Allelome Reveals Tissue Specific
Regulation of Allelic Expression.” ELife, vol. 6, e25125, eLife Sciences
Publications, 2017, doi:10.7554/eLife.25125.
short: D. Andergassen, C. Dotter, D. Wenzel, V. Sigl, P. Bammer, M. Muckenhuber,
D. Mayer, T. Kulinski, H. Theussl, J. Penninger, C. Bock, D. Barlow, F. Pauler,
Q. Hudson, ELife 6 (2017).
date_created: 2018-12-11T11:48:05Z
date_published: 2017-08-14T00:00:00Z
date_updated: 2021-01-12T08:11:57Z
day: '14'
ddc:
- '576'
department:
- _id: GaNo
- _id: SiHi
doi: 10.7554/eLife.25125
file:
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date_updated: 2020-07-14T12:47:50Z
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file_size: 6399510
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date_updated: 2020-07-14T12:47:50Z
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has_accepted_license: '1'
intvolume: ' 6'
language:
- iso: eng
month: '08'
oa: 1
oa_version: Published Version
project:
- _id: 25E9AF9E-B435-11E9-9278-68D0E5697425
call_identifier: FWF
grant_number: P27201-B22
name: Revealing the mechanisms underlying drug interactions
publication: eLife
publication_identifier:
issn:
- 2050084X
publication_status: published
publisher: eLife Sciences Publications
publist_id: '6971'
pubrep_id: '885'
quality_controlled: '1'
scopus_import: 1
status: public
title: Mapping the mouse Allelome reveals tissue specific regulation of allelic expression
tmp:
image: /images/cc_by.png
legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode
name: Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
short: CC BY (4.0)
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 6
year: '2017'
...
---
_id: '714'
abstract:
- lang: eng
text: Background HIV-1 infection and drug abuse are frequently co-morbid and their
association greatly increases the severity of HIV-1-induced neuropathology. While
nucleus accumbens (NAcc) function is severely perturbed by drugs of abuse, little
is known about how HIV-1 infection affects NAcc. Methods We used calcium and voltage
imaging to investigate the effect of HIV-1 trans-activator of transcription (Tat)
on rat NAcc. Based on previous neuronal studies, we hypothesized that Tat modulates
intracellular Ca2+ homeostasis of NAcc neurons. Results We provide evidence that
Tat triggers a Ca2+ signaling cascade in NAcc medium spiny neurons (MSN) expressing
D1-like dopamine receptors leading to neuronal depolarization. Firstly, Tat induced
inositol 1,4,5-trisphsophate (IP3) receptor-mediated Ca2+ release from endoplasmic
reticulum, followed by Ca2+ and Na+ influx via transient receptor potential canonical
channels. The influx of cations depolarizes the membrane promoting additional
Ca2+ entry through voltage-gated P/Q-type Ca2+ channels and opening of tetrodotoxin-sensitive
Na+ channels. By activating this mechanism, Tat elicits a feed-forward depolarization
increasing the excitability of D1-phosphatidylinositol-linked NAcc MSN. We previously
found that cocaine targets NAcc neurons directly (independent of the inhibition
of dopamine transporter) only when IP3-generating mechanisms are concomitantly
initiated. When tested here, cocaine produced a dose-dependent potentiation of
the effect of Tat on cytosolic Ca2+. Conclusion We describe for the first time
a HIV-1 Tat-triggered Ca2+ signaling in MSN of NAcc involving TRPC and depolarization
and a potentiation of the effect of Tat by cocaine, which may be relevant for
the reward axis in cocaine-abusing HIV-1-positive patients.
acknowledgement: This work was supported by the National Institutes of Health grants
DA035926 (to MEA), and P30DA013429 (to EMU).
article_processing_charge: No
article_type: original
author:
- first_name: Gabriela
full_name: Brailoiu, Gabriela
last_name: Brailoiu
- first_name: Elena
full_name: Deliu, Elena
id: 37A40D7E-F248-11E8-B48F-1D18A9856A87
last_name: Deliu
orcid: 0000-0002-7370-5293
- first_name: Jeffrey
full_name: Barr, Jeffrey
last_name: Barr
- first_name: Linda
full_name: Console Bram, Linda
last_name: Console Bram
- first_name: Alexandra
full_name: Ciuciu, Alexandra
last_name: Ciuciu
- first_name: Mary
full_name: Abood, Mary
last_name: Abood
- first_name: Ellen
full_name: Unterwald, Ellen
last_name: Unterwald
- first_name: Eugen
full_name: Brǎiloiu, Eugen
last_name: Brǎiloiu
citation:
ama: Brailoiu G, Deliu E, Barr J, et al. HIV Tat excites D1 receptor-like expressing
neurons from rat nucleus accumbens. Drug and Alcohol Dependence. 2017;178:7-14.
doi:10.1016/j.drugalcdep.2017.04.015
apa: Brailoiu, G., Deliu, E., Barr, J., Console Bram, L., Ciuciu, A., Abood, M.,
… Brǎiloiu, E. (2017). HIV Tat excites D1 receptor-like expressing neurons from
rat nucleus accumbens. Drug and Alcohol Dependence. Elsevier. https://doi.org/10.1016/j.drugalcdep.2017.04.015
chicago: Brailoiu, Gabriela, Elena Deliu, Jeffrey Barr, Linda Console Bram, Alexandra
Ciuciu, Mary Abood, Ellen Unterwald, and Eugen Brǎiloiu. “HIV Tat Excites D1 Receptor-like
Expressing Neurons from Rat Nucleus Accumbens.” Drug and Alcohol Dependence.
Elsevier, 2017. https://doi.org/10.1016/j.drugalcdep.2017.04.015.
ieee: G. Brailoiu et al., “HIV Tat excites D1 receptor-like expressing neurons
from rat nucleus accumbens,” Drug and Alcohol Dependence, vol. 178. Elsevier,
pp. 7–14, 2017.
ista: Brailoiu G, Deliu E, Barr J, Console Bram L, Ciuciu A, Abood M, Unterwald
E, Brǎiloiu E. 2017. HIV Tat excites D1 receptor-like expressing neurons from
rat nucleus accumbens. Drug and Alcohol Dependence. 178, 7–14.
mla: Brailoiu, Gabriela, et al. “HIV Tat Excites D1 Receptor-like Expressing Neurons
from Rat Nucleus Accumbens.” Drug and Alcohol Dependence, vol. 178, Elsevier,
2017, pp. 7–14, doi:10.1016/j.drugalcdep.2017.04.015.
short: G. Brailoiu, E. Deliu, J. Barr, L. Console Bram, A. Ciuciu, M. Abood, E.
Unterwald, E. Brǎiloiu, Drug and Alcohol Dependence 178 (2017) 7–14.
date_created: 2018-12-11T11:48:05Z
date_published: 2017-09-01T00:00:00Z
date_updated: 2021-01-12T08:12:00Z
day: '01'
department:
- _id: GaNo
doi: 10.1016/j.drugalcdep.2017.04.015
external_id:
pmid:
- '28623807'
intvolume: ' 178'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797705
month: '09'
oa: 1
oa_version: Submitted Version
page: 7 - 14
pmid: 1
publication: Drug and Alcohol Dependence
publication_identifier:
issn:
- '03768716'
publication_status: published
publisher: Elsevier
publist_id: '6967'
quality_controlled: '1'
scopus_import: 1
status: public
title: HIV Tat excites D1 receptor-like expressing neurons from rat nucleus accumbens
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 178
year: '2017'
...
---
_id: '715'
abstract:
- lang: eng
text: D-cycloserine ameliorates breathing abnormalities and survival rate in a mouse
model of Rett syndrome.
article_number: aao4218
author:
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
citation:
ama: Novarino G. More excitation for Rett syndrome. Science Translational Medicine.
2017;9(405). doi:10.1126/scitranslmed.aao4218
apa: Novarino, G. (2017). More excitation for Rett syndrome. Science Translational
Medicine. American Association for the Advancement of Science. https://doi.org/10.1126/scitranslmed.aao4218
chicago: Novarino, Gaia. “More Excitation for Rett Syndrome.” Science Translational
Medicine. American Association for the Advancement of Science, 2017. https://doi.org/10.1126/scitranslmed.aao4218.
ieee: G. Novarino, “More excitation for Rett syndrome,” Science Translational
Medicine, vol. 9, no. 405. American Association for the Advancement of Science,
2017.
ista: Novarino G. 2017. More excitation for Rett syndrome. Science Translational
Medicine. 9(405), aao4218.
mla: Novarino, Gaia. “More Excitation for Rett Syndrome.” Science Translational
Medicine, vol. 9, no. 405, aao4218, American Association for the Advancement
of Science, 2017, doi:10.1126/scitranslmed.aao4218.
short: G. Novarino, Science Translational Medicine 9 (2017).
date_created: 2018-12-11T11:48:06Z
date_published: 2017-08-30T00:00:00Z
date_updated: 2021-01-12T08:12:04Z
day: '30'
department:
- _id: GaNo
doi: 10.1126/scitranslmed.aao4218
intvolume: ' 9'
issue: '405'
language:
- iso: eng
month: '08'
oa_version: None
publication: Science Translational Medicine
publication_identifier:
issn:
- '19466234'
publication_status: published
publisher: American Association for the Advancement of Science
publist_id: '6968'
quality_controlled: '1'
scopus_import: 1
status: public
title: More excitation for Rett syndrome
type: journal_article
user_id: 3E5EF7F0-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2017'
...
---
_id: '731'
abstract:
- lang: eng
text: Genetic variations in the oxytocin receptor gene affect patients with ASD
and ADHD differently.
article_number: eaap8168
author:
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
citation:
ama: Novarino G. The science of love in ASD and ADHD. Science Translational Medicine.
2017;9(411). doi:10.1126/scitranslmed.aap8168
apa: Novarino, G. (2017). The science of love in ASD and ADHD. Science Translational
Medicine. American Association for the Advancement of Science. https://doi.org/10.1126/scitranslmed.aap8168
chicago: Novarino, Gaia. “The Science of Love in ASD and ADHD.” Science Translational
Medicine. American Association for the Advancement of Science, 2017. https://doi.org/10.1126/scitranslmed.aap8168.
ieee: G. Novarino, “The science of love in ASD and ADHD,” Science Translational
Medicine, vol. 9, no. 411. American Association for the Advancement of Science,
2017.
ista: Novarino G. 2017. The science of love in ASD and ADHD. Science Translational
Medicine. 9(411), eaap8168.
mla: Novarino, Gaia. “The Science of Love in ASD and ADHD.” Science Translational
Medicine, vol. 9, no. 411, eaap8168, American Association for the Advancement
of Science, 2017, doi:10.1126/scitranslmed.aap8168.
short: G. Novarino, Science Translational Medicine 9 (2017).
date_created: 2018-12-11T11:48:12Z
date_published: 2017-10-11T00:00:00Z
date_updated: 2021-01-12T08:12:57Z
day: '11'
department:
- _id: GaNo
doi: 10.1126/scitranslmed.aap8168
intvolume: ' 9'
issue: '411'
language:
- iso: eng
month: '10'
oa_version: None
publication: Science Translational Medicine
publication_identifier:
issn:
- '19466234'
publication_status: published
publisher: American Association for the Advancement of Science
publist_id: '6938'
quality_controlled: '1'
scopus_import: 1
status: public
title: The science of love in ASD and ADHD
type: journal_article
user_id: 3E5EF7F0-F248-11E8-B48F-1D18A9856A87
volume: 9
year: '2017'
...
---
_id: '1228'
abstract:
- lang: eng
text: Since 2006, reprogrammed cells have increasingly been used as a biomedical
research technique in addition to neuro-psychiatric methods. These rapidly evolving
techniques allow for the generation of neuronal sub-populations, and have sparked
interest not only in monogenetic neuro-psychiatric diseases, but also in poly-genetic
and poly-aetiological disorders such as schizophrenia (SCZ) and bipolar disorder
(BPD). This review provides a summary of 19 publications on reprogrammed adult
somatic cells derived from patients with SCZ, and five publications using this
technique in patients with BPD. As both disorders are complex and heterogeneous,
there is a plurality of hypotheses to be tested in vitro. In SCZ, data on alterations
of dopaminergic transmission in vitro are sparse, despite the great explanatory
power of the so-called DA hypothesis of SCZ. Some findings correspond to perturbations
of cell energy metabolism, and observations in reprogrammed cells suggest neuro-developmental
alterations. Some studies also report on the efficacy of medicinal compounds to
revert alterations observed in cellular models. However, due to the paucity of
replication studies, no comprehensive conclusions can be drawn from studies using
reprogrammed cells at the present time. In the future, findings from cell culture
methods need to be integrated with clinical, epidemiological, pharmacological
and imaging data in order to generate a more comprehensive picture of SCZ and
BPD.
acknowledgement: This work was supported by grants of the Austrian Science Fund (FWF)
P23585B09 to M.W. and F3506 to H.H.S. and the “Wiener Wissenschafts-, Forschungs-
und Technologiefonds” (Vienna Science and Technology Fund; WWTF) CS15-033 to M.W.
article_processing_charge: No
article_type: review
author:
- first_name: Ulrich
full_name: Sauerzopf, Ulrich
last_name: Sauerzopf
- first_name: Roberto
full_name: Sacco, Roberto
id: 42C9F57E-F248-11E8-B48F-1D18A9856A87
last_name: Sacco
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
- first_name: Marco
full_name: Niello, Marco
last_name: Niello
- first_name: Ana
full_name: Weidenauer, Ana
last_name: Weidenauer
- first_name: Nicole
full_name: Praschak Rieder, Nicole
last_name: Praschak Rieder
- first_name: Harald
full_name: Sitte, Harald
last_name: Sitte
- first_name: Matthaeus
full_name: Willeit, Matthaeus
last_name: Willeit
citation:
ama: Sauerzopf U, Sacco R, Novarino G, et al. Are reprogrammed cells a useful tool
for studying dopamine dysfunction in psychotic disorders? A review of the current
evidence. European Journal of Neuroscience. 2017;45(1):45-57. doi:10.1111/ejn.13418
apa: Sauerzopf, U., Sacco, R., Novarino, G., Niello, M., Weidenauer, A., Praschak
Rieder, N., … Willeit, M. (2017). Are reprogrammed cells a useful tool for studying
dopamine dysfunction in psychotic disorders? A review of the current evidence.
European Journal of Neuroscience. Wiley-Blackwell. https://doi.org/10.1111/ejn.13418
chicago: Sauerzopf, Ulrich, Roberto Sacco, Gaia Novarino, Marco Niello, Ana Weidenauer,
Nicole Praschak Rieder, Harald Sitte, and Matthaeus Willeit. “Are Reprogrammed
Cells a Useful Tool for Studying Dopamine Dysfunction in Psychotic Disorders?
A Review of the Current Evidence.” European Journal of Neuroscience. Wiley-Blackwell,
2017. https://doi.org/10.1111/ejn.13418.
ieee: U. Sauerzopf et al., “Are reprogrammed cells a useful tool for studying
dopamine dysfunction in psychotic disorders? A review of the current evidence,”
European Journal of Neuroscience, vol. 45, no. 1. Wiley-Blackwell, pp.
45–57, 2017.
ista: Sauerzopf U, Sacco R, Novarino G, Niello M, Weidenauer A, Praschak Rieder
N, Sitte H, Willeit M. 2017. Are reprogrammed cells a useful tool for studying
dopamine dysfunction in psychotic disorders? A review of the current evidence.
European Journal of Neuroscience. 45(1), 45–57.
mla: Sauerzopf, Ulrich, et al. “Are Reprogrammed Cells a Useful Tool for Studying
Dopamine Dysfunction in Psychotic Disorders? A Review of the Current Evidence.”
European Journal of Neuroscience, vol. 45, no. 1, Wiley-Blackwell, 2017,
pp. 45–57, doi:10.1111/ejn.13418.
short: U. Sauerzopf, R. Sacco, G. Novarino, M. Niello, A. Weidenauer, N. Praschak
Rieder, H. Sitte, M. Willeit, European Journal of Neuroscience 45 (2017) 45–57.
date_created: 2018-12-11T11:50:50Z
date_published: 2017-01-01T00:00:00Z
date_updated: 2023-09-20T11:16:01Z
day: '01'
ddc:
- '616'
department:
- _id: GaNo
doi: 10.1111/ejn.13418
external_id:
isi:
- '000392487100005'
pmid:
- '27690184'
file:
- access_level: open_access
checksum: c572cf02be8fbb7020cfcfb892182e4c
content_type: application/pdf
creator: system
date_created: 2018-12-12T10:10:48Z
date_updated: 2020-07-14T12:44:39Z
file_id: '4838'
file_name: IST-2017-738-v1+1_Sauerzopf_et_al-2017-European_Journal_of_Neuroscience.pdf
file_size: 169145
relation: main_file
file_date_updated: 2020-07-14T12:44:39Z
has_accepted_license: '1'
intvolume: ' 45'
isi: 1
issue: '1'
language:
- iso: eng
month: '01'
oa: 1
oa_version: Published Version
page: 45 - 57
pmid: 1
publication: European Journal of Neuroscience
publication_status: published
publisher: Wiley-Blackwell
publist_id: '6106'
pubrep_id: '738'
quality_controlled: '1'
scopus_import: '1'
status: public
title: Are reprogrammed cells a useful tool for studying dopamine dysfunction in psychotic
disorders? A review of the current evidence
tmp:
image: /images/cc_by.png
legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode
name: Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
short: CC BY (4.0)
type: journal_article
user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1
volume: 45
year: '2017'
...
---
_id: '747'
abstract:
- lang: eng
text: Bradykinin (BK), a component of the kallikrein-kininogen-kinin system exerts
multiple effects via B1 and B2 receptor activation. In the cardiovascular system,
bradykinin has cardioprotective and vasodilator properties. We investigated the
effect of BK on cardiac-projecting neurons of nucleus ambiguus, a key site for
the parasympathetic cardiac regulation. BK produced a dose-dependent increase
in cytosolic Ca2+ concentration. Pretreatment with HOE140, a B2 receptor antagonist,
but not with R715, a B1 receptor antagonist, abolished the response to BK. A selective
B2 receptor agonist, but not a B1 receptor agonist, elicited an increase in cytosolic
Ca2+ similarly to BK. Inhibition of N-type voltage-gated Ca2+ channels with ω-conotoxin
GVIA had no effect on the Ca2+ signal produced by BK, while pretreatment with
ω-conotoxin MVIIC, a blocker of P/Q-type of Ca2+ channels, significantly diminished
the effect of BK. Pretreatment with xestospongin C and 2-aminoethoxydiphenyl borate,
antagonists of inositol 1,4,5-trisphosphate receptors, abolished the response
to BK. Inhibition of ryanodine receptors reduced the BK-induced Ca2+ increase,
while disruption of lysosomal Ca2+ stores with bafilomycin A1 did not affect the
response. BK produced a dose-dependent depolarization of nucleus ambiguus neurons,
which was prevented by the B2 receptor antagonist. In vivo studies indicate that
microinjection of BK into nucleus ambiguus elicited bradycardia in conscious rats
via B2 receptors. In summary, in cardiac vagal neurons of nucleus ambiguus, BK
activates B2 receptors promoting Ca2+ influx and Ca2+ release from endoplasmic
reticulum, and membrane depolarization; these effects are translated in vivo by
bradycardia.
article_processing_charge: No
article_type: original
author:
- first_name: Eugen
full_name: Brǎiloiu, Eugen
last_name: Brǎiloiu
- first_name: Matthew
full_name: Mcguire, Matthew
last_name: Mcguire
- first_name: Shadaria
full_name: Shuler, Shadaria
last_name: Shuler
- first_name: Elena
full_name: Deliu, Elena
id: 37A40D7E-F248-11E8-B48F-1D18A9856A87
last_name: Deliu
orcid: 0000-0002-7370-5293
- first_name: Jeffrey
full_name: Barr, Jeffrey
last_name: Barr
- first_name: Mary
full_name: Abood, Mary
last_name: Abood
- first_name: Gabriela
full_name: Brailoiu, Gabriela
last_name: Brailoiu
citation:
ama: Brǎiloiu E, Mcguire M, Shuler S, et al. Modulation of cardiac vagal tone by
bradykinin acting on nucleus ambiguus. Neuroscience. 2017;365:23-32. doi:10.1016/j.neuroscience.2017.09.034
apa: Brǎiloiu, E., Mcguire, M., Shuler, S., Deliu, E., Barr, J., Abood, M., &
Brailoiu, G. (2017). Modulation of cardiac vagal tone by bradykinin acting on
nucleus ambiguus. Neuroscience. Elsevier. https://doi.org/10.1016/j.neuroscience.2017.09.034
chicago: Brǎiloiu, Eugen, Matthew Mcguire, Shadaria Shuler, Elena Deliu, Jeffrey
Barr, Mary Abood, and Gabriela Brailoiu. “Modulation of Cardiac Vagal Tone by
Bradykinin Acting on Nucleus Ambiguus.” Neuroscience. Elsevier, 2017. https://doi.org/10.1016/j.neuroscience.2017.09.034.
ieee: E. Brǎiloiu et al., “Modulation of cardiac vagal tone by bradykinin
acting on nucleus ambiguus,” Neuroscience, vol. 365. Elsevier, pp. 23–32,
2017.
ista: Brǎiloiu E, Mcguire M, Shuler S, Deliu E, Barr J, Abood M, Brailoiu G. 2017.
Modulation of cardiac vagal tone by bradykinin acting on nucleus ambiguus. Neuroscience.
365, 23–32.
mla: Brǎiloiu, Eugen, et al. “Modulation of Cardiac Vagal Tone by Bradykinin Acting
on Nucleus Ambiguus.” Neuroscience, vol. 365, Elsevier, 2017, pp. 23–32,
doi:10.1016/j.neuroscience.2017.09.034.
short: E. Brǎiloiu, M. Mcguire, S. Shuler, E. Deliu, J. Barr, M. Abood, G. Brailoiu,
Neuroscience 365 (2017) 23–32.
date_created: 2018-12-11T11:48:17Z
date_published: 2017-12-04T00:00:00Z
date_updated: 2023-09-27T12:26:59Z
day: '04'
department:
- _id: GaNo
doi: 10.1016/j.neuroscience.2017.09.034
external_id:
isi:
- '000415966200003'
pmid:
- '28951324'
intvolume: ' 365'
isi: 1
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798458
month: '12'
oa: 1
oa_version: Submitted Version
page: 23 - 32
pmid: 1
publication: Neuroscience
publication_identifier:
issn:
- '03064522'
publication_status: published
publisher: Elsevier
publist_id: '6911'
quality_controlled: '1'
scopus_import: '1'
status: public
title: Modulation of cardiac vagal tone by bradykinin acting on nucleus ambiguus
type: journal_article
user_id: c635000d-4b10-11ee-a964-aac5a93f6ac1
volume: 365
year: '2017'
...
---
_id: '1240'
abstract:
- lang: eng
text: 'Background: Long non-coding RNAs (lncRNAs) are increasingly implicated as
gene regulators and may ultimately be more numerous than protein-coding genes
in the human genome. Despite large numbers of reported lncRNAs, reference annotations
are likely incomplete due to their lower and tighter tissue-specific expression
compared to mRNAs. An unexplored factor potentially confounding lncRNA identification
is inter-individual expression variability. Here, we characterize lncRNA natural
expression variability in human primary granulocytes. Results: We annotate granulocyte
lncRNAs and mRNAs in RNA-seq data from 10 healthy individuals, identifying multiple
lncRNAs absent from reference annotations, and use this to investigate three known
features (higher tissue-specificity, lower expression, and reduced splicing efficiency)
of lncRNAs relative to mRNAs. Expression variability was examined in seven individuals
sampled three times at 1- or more than 1-month intervals. We show that lncRNAs
display significantly more inter-individual expression variability compared to
mRNAs. We confirm this finding in two independent human datasets by analyzing
multiple tissues from the GTEx project and lymphoblastoid cell lines from the
GEUVADIS project. Using the latter dataset we also show that including more human
donors into the transcriptome annotation pipeline allows identification of an
increasing number of lncRNAs, but minimally affects mRNA gene number. Conclusions:
A comprehensive annotation of lncRNAs is known to require an approach that is
sensitive to low and tight tissue-specific expression. Here we show that increased
inter-individual expression variability is an additional general lncRNA feature
to consider when creating a comprehensive annotation of human lncRNAs or proposing
their use as prognostic or disease markers.'
acknowledgement: "This study was partly funded by the Austrian Science Fund (FWF F43-B09,
FWF W1207-B09). PMG is a recipient of a DOC Fellowship of the Austrian Academy of
Sciences.\r\nWe thank Ruth Klement, Tomasz Kulinski, Elisangela Valente, Elisabeth
Salzer,\r\nand Roland Jäger for technical/bioinformatic assistance and advice, the
CeMM\r\nIT department and José Manuel Molero for help and advice on software usage,\r\nthe
Biomedical Sequencing Facility (http://biomedical-sequencing.at/) for\r\nsequencing
and advice, Jacques Colinge, Daniel Andergassen, and Tomasz\r\nKulinski for discussions,
Quanah Hudson and Jörg Menche for reading and\r\ncommenting on the manuscript."
article_number: '14'
author:
- first_name: Aleksandra
full_name: Kornienko, Aleksandra
last_name: Kornienko
- first_name: Christoph
full_name: Dotter, Christoph
id: 4C66542E-F248-11E8-B48F-1D18A9856A87
last_name: Dotter
- first_name: Philipp
full_name: Guenzl, Philipp
last_name: Guenzl
- first_name: Heinz
full_name: Gisslinger, Heinz
last_name: Gisslinger
- first_name: Bettina
full_name: Gisslinger, Bettina
last_name: Gisslinger
- first_name: Ciara
full_name: Cleary, Ciara
last_name: Cleary
- first_name: Robert
full_name: Kralovics, Robert
last_name: Kralovics
- first_name: Florian
full_name: Pauler, Florian
id: 48EA0138-F248-11E8-B48F-1D18A9856A87
last_name: Pauler
- first_name: Denise
full_name: Barlow, Denise
last_name: Barlow
citation:
ama: Kornienko A, Dotter C, Guenzl P, et al. Long non-coding RNAs display higher
natural expression variation than protein-coding genes in healthy humans. Genome
Biology. 2016;17(1). doi:10.1186/s13059-016-0873-8
apa: Kornienko, A., Dotter, C., Guenzl, P., Gisslinger, H., Gisslinger, B., Cleary,
C., … Barlow, D. (2016). Long non-coding RNAs display higher natural expression
variation than protein-coding genes in healthy humans. Genome Biology.
BioMed Central. https://doi.org/10.1186/s13059-016-0873-8
chicago: Kornienko, Aleksandra, Christoph Dotter, Philipp Guenzl, Heinz Gisslinger,
Bettina Gisslinger, Ciara Cleary, Robert Kralovics, Florian Pauler, and Denise
Barlow. “Long Non-Coding RNAs Display Higher Natural Expression Variation than
Protein-Coding Genes in Healthy Humans.” Genome Biology. BioMed Central,
2016. https://doi.org/10.1186/s13059-016-0873-8.
ieee: A. Kornienko et al., “Long non-coding RNAs display higher natural expression
variation than protein-coding genes in healthy humans,” Genome Biology,
vol. 17, no. 1. BioMed Central, 2016.
ista: Kornienko A, Dotter C, Guenzl P, Gisslinger H, Gisslinger B, Cleary C, Kralovics
R, Pauler F, Barlow D. 2016. Long non-coding RNAs display higher natural expression
variation than protein-coding genes in healthy humans. Genome Biology. 17(1),
14.
mla: Kornienko, Aleksandra, et al. “Long Non-Coding RNAs Display Higher Natural
Expression Variation than Protein-Coding Genes in Healthy Humans.” Genome Biology,
vol. 17, no. 1, 14, BioMed Central, 2016, doi:10.1186/s13059-016-0873-8.
short: A. Kornienko, C. Dotter, P. Guenzl, H. Gisslinger, B. Gisslinger, C. Cleary,
R. Kralovics, F. Pauler, D. Barlow, Genome Biology 17 (2016).
date_created: 2018-12-11T11:50:53Z
date_published: 2016-01-29T00:00:00Z
date_updated: 2021-01-12T06:49:20Z
day: '29'
ddc:
- '576'
department:
- _id: GaNo
doi: 10.1186/s13059-016-0873-8
file:
- access_level: open_access
checksum: a268beee1a690801c83ec6729f9ebc5b
content_type: application/pdf
creator: system
date_created: 2018-12-12T10:10:05Z
date_updated: 2020-07-14T12:44:41Z
file_id: '4789'
file_name: IST-2016-709-v1+1_s13059-016-0873-8.pdf
file_size: 2914601
relation: main_file
file_date_updated: 2020-07-14T12:44:41Z
has_accepted_license: '1'
intvolume: ' 17'
issue: '1'
language:
- iso: eng
month: '01'
oa: 1
oa_version: Published Version
publication: Genome Biology
publication_status: published
publisher: BioMed Central
publist_id: '6093'
pubrep_id: '709'
quality_controlled: '1'
scopus_import: 1
status: public
title: Long non-coding RNAs display higher natural expression variation than protein-coding
genes in healthy humans
tmp:
image: /images/cc_by.png
legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode
name: Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
short: CC BY (4.0)
type: journal_article
user_id: 3E5EF7F0-F248-11E8-B48F-1D18A9856A87
volume: 17
year: '2016'
...
---
_id: '1183'
abstract:
- lang: eng
text: Autism spectrum disorders (ASD) are a group of genetic disorders often overlapping
with other neurological conditions. We previously described abnormalities in the
branched-chain amino acid (BCAA) catabolic pathway as a cause of ASD. Here, we
show that the solute carrier transporter 7a5 (SLC7A5), a large neutral amino acid
transporter localized at the blood brain barrier (BBB), has an essential role
in maintaining normal levels of brain BCAAs. In mice, deletion of Slc7a5 from
the endothelial cells of the BBB leads to atypical brain amino acid profile, abnormal
mRNA translation, and severe neurological abnormalities. Furthermore, we identified
several patients with autistic traits and motor delay carrying deleterious homozygous
mutations in the SLC7A5 gene. Finally, we demonstrate that BCAA intracerebroventricular
administration ameliorates abnormal behaviors in adult mutant mice. Our data elucidate
a neurological syndrome defined by SLC7A5 mutations and support an essential role
for the BCAA in human brain function.
acknowledgement: "This work was supported by NICHD (P01HD070494) and SFARI (grant
275275) to J.G.G., and FWF (SFB35_3523) to G.N.\r\nWe thank A.C. Manzano, Mike Liu,
and F. Marr for technical assistance, and R. Shigemoto and the IST Austria Electron
Microscopy (EM) Facility for assistance. We acknowledge support from CIDR for genome-wide
SNP analysis (X01HG008823) and Broad Institute Center for Mendelian Disorders (UM1HG008900
to D. MacArthur), the Yale Center for Mendelian Disorders (U54HG006504 to M.G.),
the Gregory M. Kiez and Mehmet Kutman Foundation (M.G.), Italian Ministry of Instruction
University and Research (PON01_00937 to C.I.), and NIH (R01-GM108911 to A.S.). This
work was supported by NICHD (P01HD070494) and SFARI (grant 275275) to J.G.G., and
FWF (SFB35_3523) to G.N.\r\n\r\n#EMFacility"
article_processing_charge: No
article_type: original
author:
- first_name: Dora-Clara
full_name: Tarlungeanu, Dora-Clara
id: 2ABCE612-F248-11E8-B48F-1D18A9856A87
last_name: Tarlungeanu
- first_name: Elena
full_name: Deliu, Elena
id: 37A40D7E-F248-11E8-B48F-1D18A9856A87
last_name: Deliu
orcid: 0000-0002-7370-5293
- first_name: Christoph
full_name: Dotter, Christoph
id: 4C66542E-F248-11E8-B48F-1D18A9856A87
last_name: Dotter
orcid: 0000-0002-9033-9096
- first_name: Majdi
full_name: Kara, Majdi
last_name: Kara
- first_name: Philipp
full_name: Janiesch, Philipp
last_name: Janiesch
- first_name: Mariafrancesca
full_name: Scalise, Mariafrancesca
last_name: Scalise
- first_name: Michele
full_name: Galluccio, Michele
last_name: Galluccio
- first_name: Mateja
full_name: Tesulov, Mateja
last_name: Tesulov
- first_name: Emanuela
full_name: Morelli, Emanuela
id: 3F4D1282-F248-11E8-B48F-1D18A9856A87
last_name: Morelli
- first_name: Fatma
full_name: Sönmez, Fatma
last_name: Sönmez
- first_name: Kaya
full_name: Bilgüvar, Kaya
last_name: Bilgüvar
- first_name: Ryuichi
full_name: Ohgaki, Ryuichi
last_name: Ohgaki
- first_name: Yoshikatsu
full_name: Kanai, Yoshikatsu
last_name: Kanai
- first_name: Anide
full_name: Johansen, Anide
last_name: Johansen
- first_name: Seham
full_name: Esharif, Seham
last_name: Esharif
- first_name: Tawfeg
full_name: Ben Omran, Tawfeg
last_name: Ben Omran
- first_name: Meral
full_name: Topcu, Meral
last_name: Topcu
- first_name: Avner
full_name: Schlessinger, Avner
last_name: Schlessinger
- first_name: Cesare
full_name: Indiveri, Cesare
last_name: Indiveri
- first_name: Kent
full_name: Duncan, Kent
last_name: Duncan
- first_name: Ahmet
full_name: Caglayan, Ahmet
last_name: Caglayan
- first_name: Murat
full_name: Günel, Murat
last_name: Günel
- first_name: Joseph
full_name: Gleeson, Joseph
last_name: Gleeson
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
citation:
ama: Tarlungeanu D-C, Deliu E, Dotter C, et al. Impaired amino acid transport at
the blood brain barrier is a cause of autism spectrum disorder. Cell. 2016;167(6):1481-1494.
doi:10.1016/j.cell.2016.11.013
apa: Tarlungeanu, D.-C., Deliu, E., Dotter, C., Kara, M., Janiesch, P., Scalise,
M., … Novarino, G. (2016). Impaired amino acid transport at the blood brain barrier
is a cause of autism spectrum disorder. Cell. Cell Press. https://doi.org/10.1016/j.cell.2016.11.013
chicago: Tarlungeanu, Dora-Clara, Elena Deliu, Christoph Dotter, Majdi Kara, Philipp
Janiesch, Mariafrancesca Scalise, Michele Galluccio, et al. “Impaired Amino Acid
Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.”
Cell. Cell Press, 2016. https://doi.org/10.1016/j.cell.2016.11.013.
ieee: D.-C. Tarlungeanu et al., “Impaired amino acid transport at the blood
brain barrier is a cause of autism spectrum disorder,” Cell, vol. 167,
no. 6. Cell Press, pp. 1481–1494, 2016.
ista: Tarlungeanu D-C, Deliu E, Dotter C, Kara M, Janiesch P, Scalise M, Galluccio
M, Tesulov M, Morelli E, Sönmez F, Bilgüvar K, Ohgaki R, Kanai Y, Johansen A,
Esharif S, Ben Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan K, Caglayan
A, Günel M, Gleeson J, Novarino G. 2016. Impaired amino acid transport at the
blood brain barrier is a cause of autism spectrum disorder. Cell. 167(6), 1481–1494.
mla: Tarlungeanu, Dora-Clara, et al. “Impaired Amino Acid Transport at the Blood
Brain Barrier Is a Cause of Autism Spectrum Disorder.” Cell, vol. 167,
no. 6, Cell Press, 2016, pp. 1481–94, doi:10.1016/j.cell.2016.11.013.
short: D.-C. Tarlungeanu, E. Deliu, C. Dotter, M. Kara, P. Janiesch, M. Scalise,
M. Galluccio, M. Tesulov, E. Morelli, F. Sönmez, K. Bilgüvar, R. Ohgaki, Y. Kanai,
A. Johansen, S. Esharif, T. Ben Omran, M. Topcu, A. Schlessinger, C. Indiveri,
K. Duncan, A. Caglayan, M. Günel, J. Gleeson, G. Novarino, Cell 167 (2016) 1481–1494.
date_created: 2018-12-11T11:50:35Z
date_published: 2016-12-01T00:00:00Z
date_updated: 2024-03-27T23:30:12Z
day: '01'
ddc:
- '576'
- '616'
department:
- _id: GaNo
doi: 10.1016/j.cell.2016.11.013
file:
- access_level: open_access
checksum: 7fe01ab12a6610d3db421e0136db2f77
content_type: application/pdf
creator: system
date_created: 2018-12-12T10:13:44Z
date_updated: 2020-07-14T12:44:37Z
file_id: '5030'
file_name: IST-2017-771-v1+1_Tarlungeanu_et_al._Final_edited.pdf
file_size: 73907957
relation: main_file
file_date_updated: 2020-07-14T12:44:37Z
has_accepted_license: '1'
intvolume: ' 167'
issue: '6'
language:
- iso: eng
month: '12'
oa: 1
oa_version: Submitted Version
page: 1481 - 1494
project:
- _id: 25473368-B435-11E9-9278-68D0E5697425
call_identifier: FWF
grant_number: F03523
name: Transmembrane Transporters in Health and Disease
publication: Cell
publication_status: published
publisher: Cell Press
publist_id: '6170'
pubrep_id: '771'
quality_controlled: '1'
related_material:
record:
- id: '395'
relation: dissertation_contains
status: public
scopus_import: '1'
status: public
title: Impaired amino acid transport at the blood brain barrier is a cause of autism
spectrum disorder
type: journal_article
user_id: 8b945eb4-e2f2-11eb-945a-df72226e66a9
volume: 167
year: '2016'
...
---
_id: '1497'
abstract:
- lang: eng
text: Detecting allelic biases from high-throughput sequencing data requires an
approach that maximises sensitivity while minimizing false positives. Here, we
present Allelome.PRO, an automated user-friendly bioinformatics pipeline, which
uses high-throughput sequencing data from reciprocal crosses of two genetically
distinct mouse strains to detect allele-specific expression and chromatin modifications.
Allelome.PRO extends approaches used in previous studies that exclusively analyzed
imprinted expression to give a complete picture of the ‘allelome’ by automatically
categorising the allelic expression of all genes in a given cell type into imprinted,
strain-biased, biallelic or non-informative. Allelome.PRO offers increased sensitivity
to analyze lowly expressed transcripts, together with a robust false discovery
rate empirically calculated from variation in the sequencing data. We used RNA-seq
data from mouse embryonic fibroblasts from F1 reciprocal crosses to determine
a biologically relevant allelic ratio cutoff, and define for the first time an
entire allelome. Furthermore, we show that Allelome.PRO detects differential enrichment
of H3K4me3 over promoters from ChIP-seq data validating the RNA-seq results. This
approach can be easily extended to analyze histone marks of active enhancers,
or transcription factor binding sites and therefore provides a powerful tool to
identify candidate cis regulatory elements genome wide.
acknowledgement: "Austrian Science Fund [FWF P25185-B22, FWF F4302- B09, FWFW1207-B09].
Funding for open access charge: Austrian Science Fund.\r\nWe thank Florian Breitwieser
for advice during the early stages of this project. High-throughput sequencing was
conducted by the Biomedical Sequencing Facility (BSF) at CeMM in Vienna."
article_number: e146
author:
- first_name: Daniel
full_name: Andergassen, Daniel
last_name: Andergassen
- first_name: Christoph
full_name: Dotter, Christoph
id: 4C66542E-F248-11E8-B48F-1D18A9856A87
last_name: Dotter
- first_name: Tomasz
full_name: Kulinski, Tomasz
last_name: Kulinski
- first_name: Philipp
full_name: Guenzl, Philipp
last_name: Guenzl
- first_name: Philipp
full_name: Bammer, Philipp
last_name: Bammer
- first_name: Denise
full_name: Barlow, Denise
last_name: Barlow
- first_name: Florian
full_name: Pauler, Florian
last_name: Pauler
- first_name: Quanah
full_name: Hudson, Quanah
last_name: Hudson
citation:
ama: Andergassen D, Dotter C, Kulinski T, et al. Allelome.PRO, a pipeline to define
allele-specific genomic features from high-throughput sequencing data. Nucleic
Acids Research. 2015;43(21). doi:10.1093/nar/gkv727
apa: Andergassen, D., Dotter, C., Kulinski, T., Guenzl, P., Bammer, P., Barlow,
D., … Hudson, Q. (2015). Allelome.PRO, a pipeline to define allele-specific genomic
features from high-throughput sequencing data. Nucleic Acids Research.
Oxford University Press. https://doi.org/10.1093/nar/gkv727
chicago: Andergassen, Daniel, Christoph Dotter, Tomasz Kulinski, Philipp Guenzl,
Philipp Bammer, Denise Barlow, Florian Pauler, and Quanah Hudson. “Allelome.PRO,
a Pipeline to Define Allele-Specific Genomic Features from High-Throughput Sequencing
Data.” Nucleic Acids Research. Oxford University Press, 2015. https://doi.org/10.1093/nar/gkv727.
ieee: D. Andergassen et al., “Allelome.PRO, a pipeline to define allele-specific
genomic features from high-throughput sequencing data,” Nucleic Acids Research,
vol. 43, no. 21. Oxford University Press, 2015.
ista: Andergassen D, Dotter C, Kulinski T, Guenzl P, Bammer P, Barlow D, Pauler
F, Hudson Q. 2015. Allelome.PRO, a pipeline to define allele-specific genomic
features from high-throughput sequencing data. Nucleic Acids Research. 43(21),
e146.
mla: Andergassen, Daniel, et al. “Allelome.PRO, a Pipeline to Define Allele-Specific
Genomic Features from High-Throughput Sequencing Data.” Nucleic Acids Research,
vol. 43, no. 21, e146, Oxford University Press, 2015, doi:10.1093/nar/gkv727.
short: D. Andergassen, C. Dotter, T. Kulinski, P. Guenzl, P. Bammer, D. Barlow,
F. Pauler, Q. Hudson, Nucleic Acids Research 43 (2015).
date_created: 2018-12-11T11:52:22Z
date_published: 2015-07-21T00:00:00Z
date_updated: 2021-01-12T06:51:09Z
day: '21'
ddc:
- '570'
department:
- _id: GaNo
doi: 10.1093/nar/gkv727
file:
- access_level: open_access
checksum: 385b83854fd0eb2e4f386867da2823e2
content_type: application/pdf
creator: dernst
date_created: 2018-12-20T14:18:57Z
date_updated: 2020-07-14T12:44:58Z
file_id: '5768'
file_name: 2015_NucleicAcidsRes_Andergassen.pdf
file_size: 6863297
relation: main_file
file_date_updated: 2020-07-14T12:44:58Z
has_accepted_license: '1'
intvolume: ' 43'
issue: '21'
language:
- iso: eng
month: '07'
oa: 1
oa_version: Published Version
publication: Nucleic Acids Research
publication_status: published
publisher: Oxford University Press
publist_id: '5682'
quality_controlled: '1'
scopus_import: 1
status: public
title: Allelome.PRO, a pipeline to define allele-specific genomic features from high-throughput
sequencing data
tmp:
image: /images/cc_by.png
legal_code_url: https://creativecommons.org/licenses/by/4.0/legalcode
name: Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)
short: CC BY (4.0)
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 43
year: '2015'
...
---
_id: '1789'
abstract:
- lang: eng
text: Intellectual disability (ID) has an estimated prevalence of 2-3%. Due to its
extreme heterogeneity, the genetic basis of ID remains elusive in many cases.
Recently, whole exome sequencing (WES) studies revealed that a large proportion
of sporadic cases are caused by de novo gene variants. To identify further genes
involved in ID, we performed WES in 250 patients with unexplained ID and their
unaffected parents and included exomes of 51 previously sequenced child-parents
trios in the analysis. Exome analysis revealed de novo intragenic variants in
SET domain-containing 5 (SETD5) in two patients. One patient carried a nonsense
variant, and the other an 81 bp deletion located across a splice-donor site. Chromosomal
microarray diagnostics further identified four de novo non-recurrent microdeletions
encompassing SETD5. CRISPR/Cas9 mutation modelling of the two intragenic variants
demonstrated nonsense-mediated decay of the resulting transcripts, pointing to
a loss-of-function (LoF) and haploinsufficiency as the common disease-causing
mechanism of intragenic SETD5 sequence variants and SETD5-containing microdeletions.
In silico domain prediction of SETD5, a predicted SET domain-containing histone
methyltransferase (HMT), substantiated the presence of a SET domain and identified
a novel putative PHD domain, strengthening a functional link to well-known histone-modifying
ID genes. All six patients presented with ID and certain facial dysmorphisms,
suggesting that SETD5 sequence variants contribute substantially to the microdeletion
3p25.3 phenotype. The present report of two SETD5 LoF variants in 301 patients
demonstrates a prevalence of 0.7% and thus SETD5 variants as a relatively frequent
cause of ID.
author:
- first_name: Alma
full_name: Kuechler, Alma
last_name: Kuechler
- first_name: Alexander
full_name: Zink, Alexander
last_name: Zink
- first_name: Thomas
full_name: Wieland, Thomas
last_name: Wieland
- first_name: Hermann
full_name: Lüdecke, Hermann
last_name: Lüdecke
- first_name: Kirsten
full_name: Cremer, Kirsten
last_name: Cremer
- first_name: Leonardo
full_name: Salviati, Leonardo
last_name: Salviati
- first_name: Pamela
full_name: Magini, Pamela
last_name: Magini
- first_name: Kimia
full_name: Najafi, Kimia
last_name: Najafi
- first_name: Christiane
full_name: Zweier, Christiane
last_name: Zweier
- first_name: Johanna
full_name: Czeschik, Johanna
last_name: Czeschik
- first_name: Stefan
full_name: Aretz, Stefan
last_name: Aretz
- first_name: Sabine
full_name: Endele, Sabine
last_name: Endele
- first_name: Federica
full_name: Tamburrino, Federica
last_name: Tamburrino
- first_name: Claudia
full_name: Pinato, Claudia
last_name: Pinato
- first_name: Maurizio
full_name: Clementi, Maurizio
last_name: Clementi
- first_name: Jasmin
full_name: Gundlach, Jasmin
last_name: Gundlach
- first_name: Carina
full_name: Maylahn, Carina
last_name: Maylahn
- first_name: Laura
full_name: Mazzanti, Laura
last_name: Mazzanti
- first_name: Eva
full_name: Wohlleber, Eva
last_name: Wohlleber
- first_name: Thomas
full_name: Schwarzmayr, Thomas
last_name: Schwarzmayr
- first_name: Roxana
full_name: Kariminejad, Roxana
last_name: Kariminejad
- first_name: Avner
full_name: Schlessinger, Avner
last_name: Schlessinger
- first_name: Dagmar
full_name: Wieczorek, Dagmar
last_name: Wieczorek
- first_name: Tim
full_name: Strom, Tim
last_name: Strom
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
- first_name: Hartmut
full_name: Engels, Hartmut
last_name: Engels
citation:
ama: Kuechler A, Zink A, Wieland T, et al. Loss-of-function variants of SETD5 cause
intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
European Journal of Human Genetics. 2015;23(6):753-760. doi:10.1038/ejhg.2014.165
apa: Kuechler, A., Zink, A., Wieland, T., Lüdecke, H., Cremer, K., Salviati, L.,
… Engels, H. (2015). Loss-of-function variants of SETD5 cause intellectual disability
and the core phenotype of microdeletion 3p25.3 syndrome. European Journal of
Human Genetics. Nature Publishing Group. https://doi.org/10.1038/ejhg.2014.165
chicago: Kuechler, Alma, Alexander Zink, Thomas Wieland, Hermann Lüdecke, Kirsten
Cremer, Leonardo Salviati, Pamela Magini, et al. “Loss-of-Function Variants of
SETD5 Cause Intellectual Disability and the Core Phenotype of Microdeletion 3p25.3
Syndrome.” European Journal of Human Genetics. Nature Publishing Group,
2015. https://doi.org/10.1038/ejhg.2014.165.
ieee: A. Kuechler et al., “Loss-of-function variants of SETD5 cause intellectual
disability and the core phenotype of microdeletion 3p25.3 syndrome,” European
Journal of Human Genetics, vol. 23, no. 6. Nature Publishing Group, pp. 753–760,
2015.
ista: Kuechler A, Zink A, Wieland T, Lüdecke H, Cremer K, Salviati L, Magini P,
Najafi K, Zweier C, Czeschik J, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi
M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad
R, Schlessinger A, Wieczorek D, Strom T, Novarino G, Engels H. 2015. Loss-of-function
variants of SETD5 cause intellectual disability and the core phenotype of microdeletion
3p25.3 syndrome. European Journal of Human Genetics. 23(6), 753–760.
mla: Kuechler, Alma, et al. “Loss-of-Function Variants of SETD5 Cause Intellectual
Disability and the Core Phenotype of Microdeletion 3p25.3 Syndrome.” European
Journal of Human Genetics, vol. 23, no. 6, Nature Publishing Group, 2015,
pp. 753–60, doi:10.1038/ejhg.2014.165.
short: A. Kuechler, A. Zink, T. Wieland, H. Lüdecke, K. Cremer, L. Salviati, P.
Magini, K. Najafi, C. Zweier, J. Czeschik, S. Aretz, S. Endele, F. Tamburrino,
C. Pinato, M. Clementi, J. Gundlach, C. Maylahn, L. Mazzanti, E. Wohlleber, T.
Schwarzmayr, R. Kariminejad, A. Schlessinger, D. Wieczorek, T. Strom, G. Novarino,
H. Engels, European Journal of Human Genetics 23 (2015) 753–760.
date_created: 2018-12-11T11:54:01Z
date_published: 2015-06-15T00:00:00Z
date_updated: 2021-01-12T06:53:12Z
day: '15'
department:
- _id: GaNo
doi: 10.1038/ejhg.2014.165
external_id:
pmid:
- '25138099'
intvolume: ' 23'
issue: '6'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795044/
month: '06'
oa: 1
oa_version: Submitted Version
page: 753 - 760
pmid: 1
publication: European Journal of Human Genetics
publication_status: published
publisher: Nature Publishing Group
publist_id: '5324'
quality_controlled: '1'
status: public
title: Loss-of-function variants of SETD5 cause intellectual disability and the core
phenotype of microdeletion 3p25.3 syndrome
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 23
year: '2015'
...
---
_id: '1916'
abstract:
- lang: eng
text: Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases
characterized by progressive age-dependent loss of corticospinal motor tract function.
Although the genetic basis is partly understood, only a fraction of cases can
receive a genetic diagnosis, and a global view of HSP is lacking. By using whole-exome
sequencing in combination with network analysis, we identified 18 previously unknown
putative HSP genes and validated nearly all of these genes functionally or genetically.
The pathways highlighted by these mutations link HSP to cellular transport, nucleotide
metabolism, and synapse and axon development. Network analysis revealed a host
of further candidate genes, of which three were mutated in our cohort. Our analysis
links HSP to other neurodegenerative disorders and can facilitate gene discovery
and mechanistic understanding of disease.
acknowledgement: Supported by the Deutsche Forschungsgemeinschaft (G.N.)
article_processing_charge: No
article_type: original
author:
- first_name: Gaia
full_name: Novarino, Gaia
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
- first_name: Ali
full_name: Fenstermaker, Ali
last_name: Fenstermaker
- first_name: Maha
full_name: Zaki, Maha
last_name: Zaki
- first_name: Matan
full_name: Hofree, Matan
last_name: Hofree
- first_name: Jennifer
full_name: Silhavy, Jennifer
last_name: Silhavy
- first_name: Andrew
full_name: Heiberg, Andrew
last_name: Heiberg
- first_name: Mostafa
full_name: Abdellateef, Mostafa
last_name: Abdellateef
- first_name: Başak
full_name: Rosti, Başak
last_name: Rosti
- first_name: Eric
full_name: Scott, Eric
last_name: Scott
- first_name: Lobna
full_name: Mansour, Lobna
last_name: Mansour
- first_name: Amira
full_name: Masri, Amira
last_name: Masri
- first_name: Hülya
full_name: Kayserili, Hülya
last_name: Kayserili
- first_name: Jumana
full_name: Al Aama, Jumana
last_name: Al Aama
- first_name: Ghada
full_name: Abdel Salam, Ghada
last_name: Abdel Salam
- first_name: Ariana
full_name: Karminejad, Ariana
last_name: Karminejad
- first_name: Majdi
full_name: Kara, Majdi
last_name: Kara
- first_name: Bülent
full_name: Kara, Bülent
last_name: Kara
- first_name: Bita
full_name: Bozorgmehri, Bita
last_name: Bozorgmehri
- first_name: Tawfeg
full_name: Ben Omran, Tawfeg
last_name: Ben Omran
- first_name: Faezeh
full_name: Mojahedi, Faezeh
last_name: Mojahedi
- first_name: Iman
full_name: Mahmoud, Iman
last_name: Mahmoud
- first_name: Naïma
full_name: Bouslam, Naïma
last_name: Bouslam
- first_name: Ahmed
full_name: Bouhouche, Ahmed
last_name: Bouhouche
- first_name: Ali
full_name: Benomar, Ali
last_name: Benomar
- first_name: Sylvain
full_name: Hanein, Sylvain
last_name: Hanein
- first_name: Laure
full_name: Raymond, Laure
last_name: Raymond
- first_name: Sylvie
full_name: Forlani, Sylvie
last_name: Forlani
- first_name: Massimo
full_name: Mascaro, Massimo
last_name: Mascaro
- first_name: Laila
full_name: Selim, Laila
last_name: Selim
- first_name: Nabil
full_name: Shehata, Nabil
last_name: Shehata
- first_name: Nasir
full_name: Al Allawi, Nasir
last_name: Al Allawi
- first_name: Parayil
full_name: Bindu, Parayil
last_name: Bindu
- first_name: Matloob
full_name: Azam, Matloob
last_name: Azam
- first_name: Murat
full_name: Günel, Murat
last_name: Günel
- first_name: Ahmet
full_name: Caglayan, Ahmet
last_name: Caglayan
- first_name: Kaya
full_name: Bilgüvar, Kaya
last_name: Bilgüvar
- first_name: Aslihan
full_name: Tolun, Aslihan
last_name: Tolun
- first_name: Mahmoud
full_name: Issa, Mahmoud
last_name: Issa
- first_name: Jana
full_name: Schroth, Jana
last_name: Schroth
- first_name: Emily
full_name: Spencer, Emily
last_name: Spencer
- first_name: Rasim
full_name: Rosti, Rasim
last_name: Rosti
- first_name: Naiara
full_name: Akizu, Naiara
last_name: Akizu
- first_name: Keith
full_name: Vaux, Keith
last_name: Vaux
- first_name: Anide
full_name: Johansen, Anide
last_name: Johansen
- first_name: Alice
full_name: Koh, Alice
last_name: Koh
- first_name: Hisham
full_name: Megahed, Hisham
last_name: Megahed
- first_name: Alexandra
full_name: Dürr, Alexandra
last_name: Dürr
- first_name: Alexis
full_name: Brice, Alexis
last_name: Brice
- first_name: Giovanni
full_name: Stévanin, Giovanni
last_name: Stévanin
- first_name: Stacy
full_name: Gabriel, Stacy
last_name: Gabriel
- first_name: Trey
full_name: Ideker, Trey
last_name: Ideker
- first_name: Joseph
full_name: Gleeson, Joseph
last_name: Gleeson
citation:
ama: Novarino G, Fenstermaker A, Zaki M, et al. Exome sequencing links corticospinal
motor neuron disease to common neurodegenerative disorders. Science. 2014;343(6170):506-511.
doi:10.1126/science.1247363
apa: Novarino, G., Fenstermaker, A., Zaki, M., Hofree, M., Silhavy, J., Heiberg,
A., … Gleeson, J. (2014). Exome sequencing links corticospinal motor neuron disease
to common neurodegenerative disorders. Science. American Association for
the Advancement of Science. https://doi.org/10.1126/science.1247363
chicago: Novarino, Gaia, Ali Fenstermaker, Maha Zaki, Matan Hofree, Jennifer Silhavy,
Andrew Heiberg, Mostafa Abdellateef, et al. “Exome Sequencing Links Corticospinal
Motor Neuron Disease to Common Neurodegenerative Disorders.” Science. American
Association for the Advancement of Science, 2014. https://doi.org/10.1126/science.1247363.
ieee: G. Novarino et al., “Exome sequencing links corticospinal motor neuron
disease to common neurodegenerative disorders,” Science, vol. 343, no.
6170. American Association for the Advancement of Science, pp. 506–511, 2014.
ista: Novarino G, Fenstermaker A, Zaki M, Hofree M, Silhavy J, Heiberg A, Abdellateef
M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al Aama J, Abdel Salam G,
Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben Omran T, Mojahedi F, Mahmoud
I, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro
M, Selim L, Shehata N, Al Allawi N, Bindu P, Azam M, Günel M, Caglayan A, Bilgüvar
K, Tolun A, Issa M, Schroth J, Spencer E, Rosti R, Akizu N, Vaux K, Johansen A,
Koh A, Megahed H, Dürr A, Brice A, Stévanin G, Gabriel S, Ideker T, Gleeson J.
2014. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative
disorders. Science. 343(6170), 506–511.
mla: Novarino, Gaia, et al. “Exome Sequencing Links Corticospinal Motor Neuron Disease
to Common Neurodegenerative Disorders.” Science, vol. 343, no. 6170, American
Association for the Advancement of Science, 2014, pp. 506–11, doi:10.1126/science.1247363.
short: G. Novarino, A. Fenstermaker, M. Zaki, M. Hofree, J. Silhavy, A. Heiberg,
M. Abdellateef, B. Rosti, E. Scott, L. Mansour, A. Masri, H. Kayserili, J. Al
Aama, G. Abdel Salam, A. Karminejad, M. Kara, B. Kara, B. Bozorgmehri, T. Ben
Omran, F. Mojahedi, I. Mahmoud, N. Bouslam, A. Bouhouche, A. Benomar, S. Hanein,
L. Raymond, S. Forlani, M. Mascaro, L. Selim, N. Shehata, N. Al Allawi, P. Bindu,
M. Azam, M. Günel, A. Caglayan, K. Bilgüvar, A. Tolun, M. Issa, J. Schroth, E.
Spencer, R. Rosti, N. Akizu, K. Vaux, A. Johansen, A. Koh, H. Megahed, A. Dürr,
A. Brice, G. Stévanin, S. Gabriel, T. Ideker, J. Gleeson, Science 343 (2014) 506–511.
date_created: 2018-12-11T11:54:42Z
date_published: 2014-01-31T00:00:00Z
date_updated: 2021-01-12T06:54:03Z
day: '31'
department:
- _id: GaNo
doi: 10.1126/science.1247363
external_id:
pmid:
- '24482476'
intvolume: ' 343'
issue: '6170'
language:
- iso: eng
main_file_link:
- open_access: '1'
url: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157572/
month: '01'
oa: 1
oa_version: Submitted Version
page: 506 - 511
pmid: 1
publication: Science
publication_status: published
publisher: American Association for the Advancement of Science
publist_id: '5178'
quality_controlled: '1'
scopus_import: 1
status: public
title: Exome sequencing links corticospinal motor neuron disease to common neurodegenerative
disorders
type: journal_article
user_id: 2DF688A6-F248-11E8-B48F-1D18A9856A87
volume: 343
year: '2014'
...