[{"intvolume":"       147","keyword":["Neurology (clinical)"],"author":[{"first_name":"Rauan","last_name":"Kaiyrzhanov","full_name":"Kaiyrzhanov, Rauan"},{"last_name":"Rad","full_name":"Rad, Aboulfazl","first_name":"Aboulfazl"},{"first_name":"Sheng-Jia","last_name":"Lin","full_name":"Lin, Sheng-Jia"},{"last_name":"Bertoli-Avella","full_name":"Bertoli-Avella, Aida","first_name":"Aida"},{"last_name":"Kallemeijn","full_name":"Kallemeijn, Wouter W","first_name":"Wouter W"},{"first_name":"Annie","full_name":"Godwin, Annie","last_name":"Godwin"},{"first_name":"Maha S","full_name":"Zaki, Maha S","last_name":"Zaki"},{"orcid":"0000-0002-2512-7812","last_name":"Huang","full_name":"Huang, Kevin","id":"3b3d2888-1ff6-11ee-9fa6-8f209ca91fe3","first_name":"Kevin"},{"last_name":"Lau","full_name":"Lau, Tracy","first_name":"Tracy"},{"first_name":"Cassidy","full_name":"Petree, Cassidy","last_name":"Petree"},{"first_name":"Stephanie","full_name":"Efthymiou, Stephanie","last_name":"Efthymiou"},{"first_name":"Ehsan","full_name":"Ghayoor Karimiani, Ehsan","last_name":"Ghayoor Karimiani"},{"first_name":"Maja","last_name":"Hempel","full_name":"Hempel, Maja"},{"first_name":"Elizabeth A","full_name":"Normand, Elizabeth A","last_name":"Normand"},{"full_name":"Rudnik-Schöneborn, Sabine","last_name":"Rudnik-Schöneborn","first_name":"Sabine"},{"full_name":"Schatz, Ulrich A","last_name":"Schatz","first_name":"Ulrich A"},{"full_name":"Baggelaar, Marc P","last_name":"Baggelaar","first_name":"Marc P"},{"last_name":"Ilyas","full_name":"Ilyas, Muhammad","first_name":"Muhammad"},{"first_name":"Tipu","last_name":"Sultan","full_name":"Sultan, Tipu"},{"full_name":"Alvi, Javeria Raza","last_name":"Alvi","first_name":"Javeria Raza"},{"first_name":"Manizha","last_name":"Ganieva","full_name":"Ganieva, Manizha"},{"last_name":"Fowler","full_name":"Fowler, Ben","first_name":"Ben"},{"first_name":"Ruxandra","full_name":"Aanicai, Ruxandra","last_name":"Aanicai"},{"last_name":"Akay Tayfun","full_name":"Akay Tayfun, Gulsen","first_name":"Gulsen"},{"last_name":"Al Saman","full_name":"Al Saman, Abdulaziz","first_name":"Abdulaziz"},{"last_name":"Alswaid","full_name":"Alswaid, Abdulrahman","first_name":"Abdulrahman"},{"first_name":"Nafise","full_name":"Amiri, Nafise","last_name":"Amiri"},{"full_name":"Asilova, Nilufar","last_name":"Asilova","first_name":"Nilufar"},{"full_name":"Shotelersuk, Vorasuk","last_name":"Shotelersuk","first_name":"Vorasuk"},{"first_name":"Patra","last_name":"Yeetong","full_name":"Yeetong, Patra"},{"full_name":"Azam, Matloob","last_name":"Azam","first_name":"Matloob"},{"first_name":"Meisam","full_name":"Babaei, Meisam","last_name":"Babaei"},{"last_name":"Bahrami Monajemi","full_name":"Bahrami Monajemi, Gholamreza","first_name":"Gholamreza"},{"full_name":"Mohammadi, Pouria","last_name":"Mohammadi","first_name":"Pouria"},{"first_name":"Saeed","full_name":"Samie, Saeed","last_name":"Samie"},{"first_name":"Selina Husna","last_name":"Banu","full_name":"Banu, Selina Husna"},{"full_name":"Basto, Jorge Pinto","last_name":"Basto","first_name":"Jorge Pinto"},{"last_name":"Kortüm","full_name":"Kortüm, Fanny","first_name":"Fanny"},{"full_name":"Bauer, Mislen","last_name":"Bauer","first_name":"Mislen"},{"first_name":"Peter","last_name":"Bauer","full_name":"Bauer, Peter"},{"first_name":"Christian","last_name":"Beetz","full_name":"Beetz, Christian"},{"first_name":"Masoud","full_name":"Garshasbi, Masoud","last_name":"Garshasbi"},{"first_name":"Awatif","last_name":"Hameed Issa","full_name":"Hameed Issa, Awatif"},{"last_name":"Eyaid","full_name":"Eyaid, Wafaa","first_name":"Wafaa"},{"last_name":"Ahmed","full_name":"Ahmed, Hind","first_name":"Hind"},{"last_name":"Hashemi","full_name":"Hashemi, Narges","first_name":"Narges"},{"first_name":"Kazem","full_name":"Hassanpour, Kazem","last_name":"Hassanpour"},{"first_name":"Isabella","full_name":"Herman, Isabella","last_name":"Herman"},{"last_name":"Ibrohimov","full_name":"Ibrohimov, Sherozjon","first_name":"Sherozjon"},{"first_name":"Ban A","full_name":"Abdul-Majeed, Ban A","last_name":"Abdul-Majeed"},{"full_name":"Imdad, Maria","last_name":"Imdad","first_name":"Maria"},{"full_name":"Isrofilov, Maksudjon","last_name":"Isrofilov","first_name":"Maksudjon"},{"last_name":"Kaiyal","full_name":"Kaiyal, Qassem","first_name":"Qassem"},{"first_name":"Suliman","last_name":"Khan","full_name":"Khan, Suliman"},{"first_name":"Brian","last_name":"Kirmse","full_name":"Kirmse, Brian"},{"last_name":"Koster","full_name":"Koster, Janet","first_name":"Janet"},{"first_name":"Charles Marques","last_name":"Lourenço","full_name":"Lourenço, Charles Marques"},{"first_name":"Tadahiro","full_name":"Mitani, Tadahiro","last_name":"Mitani"},{"full_name":"Moldovan, Oana","last_name":"Moldovan","first_name":"Oana"},{"first_name":"David","last_name":"Murphy","full_name":"Murphy, David"},{"first_name":"Maryam","full_name":"Najafi, Maryam","last_name":"Najafi"},{"first_name":"Davut","last_name":"Pehlivan","full_name":"Pehlivan, Davut"},{"full_name":"Rocha, Maria Eugenia","last_name":"Rocha","first_name":"Maria Eugenia"},{"first_name":"Vincenzo","full_name":"Salpietro, Vincenzo","last_name":"Salpietro"},{"first_name":"Miriam","full_name":"Schmidts, Miriam","last_name":"Schmidts"},{"first_name":"Adel","full_name":"Shalata, Adel","last_name":"Shalata"},{"full_name":"Mahroum, Mohammad","last_name":"Mahroum","first_name":"Mohammad"},{"first_name":"Jawabreh Kassem","last_name":"Talbeya","full_name":"Talbeya, Jawabreh Kassem"},{"first_name":"Robert W","last_name":"Taylor","full_name":"Taylor, Robert W"},{"full_name":"Vazquez, Dayana","last_name":"Vazquez","first_name":"Dayana"},{"last_name":"Vetro","full_name":"Vetro, Annalisa","first_name":"Annalisa"},{"first_name":"Hans R","last_name":"Waterham","full_name":"Waterham, Hans R"},{"first_name":"Mashaya","full_name":"Zaman, Mashaya","last_name":"Zaman"},{"first_name":"Tina A","last_name":"Schrader","full_name":"Schrader, Tina A"},{"last_name":"Chung","full_name":"Chung, Wendy K","first_name":"Wendy K"},{"full_name":"Guerrini, Renzo","last_name":"Guerrini","first_name":"Renzo"},{"last_name":"Lupski","full_name":"Lupski, James R","first_name":"James R"},{"last_name":"Gleeson","full_name":"Gleeson, Joseph","first_name":"Joseph"},{"last_name":"Suri","full_name":"Suri, Mohnish","first_name":"Mohnish"},{"full_name":"Jamshidi, Yalda","last_name":"Jamshidi","first_name":"Yalda"},{"first_name":"Kailash P","last_name":"Bhatia","full_name":"Bhatia, Kailash P"},{"first_name":"Barbara","full_name":"Vona, Barbara","last_name":"Vona"},{"first_name":"Michael","full_name":"Schrader, Michael","last_name":"Schrader"},{"first_name":"Mariasavina","last_name":"Severino","full_name":"Severino, Mariasavina"},{"first_name":"Matthew","full_name":"Guille, Matthew","last_name":"Guille"},{"full_name":"Tate, Edward W","last_name":"Tate","first_name":"Edward W"},{"first_name":"Gaurav K","last_name":"Varshney","full_name":"Varshney, Gaurav K"},{"full_name":"Houlden, Henry","last_name":"Houlden","first_name":"Henry"},{"last_name":"Maroofian","full_name":"Maroofian, Reza","first_name":"Reza"}],"scopus_import":"1","publication":"Brain","file_date_updated":"2024-07-16T08:22:13Z","oa":1,"publication_identifier":{"issn":["0006-8950"],"eissn":["1460-2156"]},"pmid":1,"file":[{"date_updated":"2024-07-16T08:22:13Z","checksum":"0ee7a8ab9300225d60968f7a3e3cfa0d","content_type":"application/pdf","file_size":2641456,"creator":"dernst","file_name":"2024_Brain_Kaiyrzhanov.pdf","date_created":"2024-07-16T08:22:13Z","file_id":"17254","access_level":"open_access","relation":"main_file","success":1}],"language":[{"iso":"eng"}],"date_created":"2023-11-16T12:36:51Z","external_id":{"pmid":["37951597"]},"department":[{"_id":"GradSch"}],"publication_status":"published","abstract":[{"text":"The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed, plays a role in the acylation of lipids and proteins, and regulates the N-myristoylation of proteins via N-myristoyltransferase enzymes (NMTs). However, its precise function in cells is still unclear, as is the consequence of ACBD6 defects on human pathophysiology. Utilizing exome sequencing and extensive international data sharing efforts, we identified 45 affected individuals from 28 unrelated families (consanguinity 93%) with bi-allelic pathogenic, predominantly loss-of-function (18/20) variants in ACBD6. We generated zebrafish and Xenopus tropicalis acbd6 knockouts by CRISPR/Cas9 and characterized the role of ACBD6 on protein N-myristoylation with YnMyr chemical proteomics in the model organisms and human cells, with the latter also being subjected further to ACBD6 peroxisomal localization studies. The affected individuals (23 males and 22 females), with ages ranging from 1 to 50 years old, typically present with a complex and progressive disease involving moderate-to-severe global developmental delay/intellectual disability (100%) with significant expressive language impairment (98%), movement disorders (97%), facial dysmorphism (95%), and mild cerebellar ataxia (85%) associated with gait impairment (94%), limb spasticity/hypertonia (76%), oculomotor (71%) and behavioural abnormalities (65%), overweight (59%), microcephaly (39%) and epilepsy (33%). The most conspicuous and common movement disorder was dystonia (94%), frequently leading to early-onset progressive postural deformities (97%), limb dystonia (55%), and cervical dystonia (31%). A jerky tremor in the upper limbs (63%), a mild head tremor (59%), parkinsonism/hypokinesia developing with advancing age (32%), and simple motor and vocal tics were among other frequent movement disorders. Midline brain malformations including corpus callosum abnormalities (70%), hypoplasia/agenesis of the anterior commissure (66%), short midbrain and small inferior cerebellar vermis (38% each), as well as hypertrophy of the clava (24%) were common neuroimaging findings. acbd6-deficient zebrafish and Xenopus models effectively recapitulated many clinical phenotypes reported in patients including movement disorders, progressive neuromotor impairment, seizures, microcephaly, craniofacial dysmorphism, and midbrain defects accompanied by developmental delay with increased mortality over time. Unlike ACBD5, ACBD6 did not show a peroxisomal localisation and ACBD6-deficiency was not associated with altered peroxisomal parameters in patient fibroblasts. Significant differences in YnMyr-labelling were observed for 68 co- and 18 post-translationally N-myristoylated proteins in patient-derived fibroblasts. N-Myristoylation was similarly affected in acbd6-deficient zebrafish and Xenopus tropicalis models, including Fus, Marcks, and Chchd-related proteins implicated in neurological diseases. The present study provides evidence that bi-allelic pathogenic variants in ACBD6 lead to a distinct neurodevelopmental syndrome accompanied by complex and progressive cognitive and movement disorders.","lang":"eng"}],"quality_controlled":"1","volume":147,"page":"1436-1456","extern":"1","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","date_updated":"2024-07-16T08:23:24Z","oa_version":"Submitted Version","year":"2024","date_published":"2024-04-01T00:00:00Z","has_accepted_license":"1","issue":"4","day":"01","type":"journal_article","publisher":"Oxford University Press","tmp":{"short":"CC BY (4.0)","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode","image":"/images/cc_by.png","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)"},"status":"public","article_type":"original","doi":"10.1093/brain/awad380","ddc":["570"],"citation":{"apa":"Kaiyrzhanov, R., Rad, A., Lin, S.-J., Bertoli-Avella, A., Kallemeijn, W. W., Godwin, A., … Maroofian, R. (2024). Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. <i>Brain</i>. Oxford University Press. <a href=\"https://doi.org/10.1093/brain/awad380\">https://doi.org/10.1093/brain/awad380</a>","ama":"Kaiyrzhanov R, Rad A, Lin S-J, et al. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. <i>Brain</i>. 2024;147(4):1436-1456. doi:<a href=\"https://doi.org/10.1093/brain/awad380\">10.1093/brain/awad380</a>","ista":"Kaiyrzhanov R, Rad A, Lin S-J, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Ghayoor Karimiani E, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Akay Tayfun G, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Bahrami Monajemi G, Mohammadi P, Samie S, Banu SH, Basto JP, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Hameed Issa A, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. 2024. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 147(4), 1436–1456.","chicago":"Kaiyrzhanov, Rauan, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, et al. “Bi-Allelic ACBD6 Variants Lead to a Neurodevelopmental Syndrome with Progressive and Complex Movement Disorders.” <i>Brain</i>. Oxford University Press, 2024. <a href=\"https://doi.org/10.1093/brain/awad380\">https://doi.org/10.1093/brain/awad380</a>.","short":"R. Kaiyrzhanov, A. Rad, S.-J. Lin, A. Bertoli-Avella, W.W. Kallemeijn, A. Godwin, M.S. Zaki, K. Huang, T. Lau, C. Petree, S. Efthymiou, E. Ghayoor Karimiani, M. Hempel, E.A. Normand, S. Rudnik-Schöneborn, U.A. Schatz, M.P. Baggelaar, M. Ilyas, T. Sultan, J.R. Alvi, M. Ganieva, B. Fowler, R. Aanicai, G. Akay Tayfun, A. Al Saman, A. Alswaid, N. Amiri, N. Asilova, V. Shotelersuk, P. Yeetong, M. Azam, M. Babaei, G. Bahrami Monajemi, P. Mohammadi, S. Samie, S.H. Banu, J.P. Basto, F. Kortüm, M. Bauer, P. Bauer, C. Beetz, M. Garshasbi, A. Hameed Issa, W. Eyaid, H. Ahmed, N. Hashemi, K. Hassanpour, I. Herman, S. Ibrohimov, B.A. Abdul-Majeed, M. Imdad, M. Isrofilov, Q. Kaiyal, S. Khan, B. Kirmse, J. Koster, C.M. Lourenço, T. Mitani, O. Moldovan, D. Murphy, M. Najafi, D. Pehlivan, M.E. Rocha, V. Salpietro, M. Schmidts, A. Shalata, M. Mahroum, J.K. Talbeya, R.W. Taylor, D. Vazquez, A. Vetro, H.R. Waterham, M. Zaman, T.A. Schrader, W.K. Chung, R. Guerrini, J.R. Lupski, J. Gleeson, M. Suri, Y. Jamshidi, K.P. Bhatia, B. Vona, M. Schrader, M. Severino, M. Guille, E.W. Tate, G.K. Varshney, H. Houlden, R. Maroofian, Brain 147 (2024) 1436–1456.","mla":"Kaiyrzhanov, Rauan, et al. “Bi-Allelic ACBD6 Variants Lead to a Neurodevelopmental Syndrome with Progressive and Complex Movement Disorders.” <i>Brain</i>, vol. 147, no. 4, Oxford University Press, 2024, pp. 1436–56, doi:<a href=\"https://doi.org/10.1093/brain/awad380\">10.1093/brain/awad380</a>.","ieee":"R. Kaiyrzhanov <i>et al.</i>, “Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders,” <i>Brain</i>, vol. 147, no. 4. Oxford University Press, pp. 1436–1456, 2024."},"article_processing_charge":"No","month":"04","title":"Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders","_id":"14543"},{"citation":{"ama":"Guerrini R, Mei D, Szigeti MK, et al. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: A disorder of lysosomal homeostasis. <i>Brain</i>. 2022;145(8):2687-2703. doi:<a href=\"https://doi.org/10.1093/brain/awac145\">10.1093/brain/awac145</a>","apa":"Guerrini, R., Mei, D., Szigeti, M. K., Pepe, S., Koenig, M. K., Von Allmen, G., … Fassio, A. (2022). Phenotypic and genetic spectrum of ATP6V1A encephalopathy: A disorder of lysosomal homeostasis. <i>Brain</i>. Oxford University Press. <a href=\"https://doi.org/10.1093/brain/awac145\">https://doi.org/10.1093/brain/awac145</a>","chicago":"Guerrini, Renzo, Davide Mei, Margit Katalin Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen, Megan T Cho, et al. “Phenotypic and Genetic Spectrum of ATP6V1A Encephalopathy: A Disorder of Lysosomal Homeostasis.” <i>Brain</i>. Oxford University Press, 2022. <a href=\"https://doi.org/10.1093/brain/awac145\">https://doi.org/10.1093/brain/awac145</a>.","ista":"Guerrini R, Mei D, Szigeti MK, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S, Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R, Masuelli L, Conti V, Novarino G, Fassio A. 2022. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: A disorder of lysosomal homeostasis. Brain. 145(8), 2687–2703.","mla":"Guerrini, Renzo, et al. “Phenotypic and Genetic Spectrum of ATP6V1A Encephalopathy: A Disorder of Lysosomal Homeostasis.” <i>Brain</i>, vol. 145, no. 8, Oxford University Press, 2022, pp. 2687–703, doi:<a href=\"https://doi.org/10.1093/brain/awac145\">10.1093/brain/awac145</a>.","short":"R. Guerrini, D. Mei, M.K. Szigeti, S. Pepe, M.K. Koenig, G. Von Allmen, M.T. Cho, K. McDonald, J. Baker, V. Bhambhani, Z. Powis, L. Rodan, R. Nabbout, G. Barcia, J.A. Rosenfeld, C.A. Bacino, C. Mignot, L.H. Power, C.J. Harris, D. Marjanovic, R.S. Møller, T.B. Hammer, R. Keski Filppula, P. Vieira, C. Hildebrandt, S. Sacharow, L. Maragliano, F. Benfenati, K. Lachlan, A. Benneche, F. Petit, J.M. de Sainte Agathe, B. Hallinan, Y. Si, I.M. Wentzensen, F. Zou, V. Narayanan, N. Matsumoto, A. Boncristiano, G. la Marca, M. Kato, K. Anderson, C. Barba, L. Sturiale, D. Garozzo, R. Bei, L. Masuelli, V. Conti, G. Novarino, A. Fassio, Brain 145 (2022) 2687–2703.","ieee":"R. Guerrini <i>et al.</i>, “Phenotypic and genetic spectrum of ATP6V1A encephalopathy: A disorder of lysosomal homeostasis,” <i>Brain</i>, vol. 145, no. 8. Oxford University Press, pp. 2687–2703, 2022."},"article_processing_charge":"No","title":"Phenotypic and genetic spectrum of ATP6V1A encephalopathy: A disorder of lysosomal homeostasis","month":"08","_id":"12174","doi":"10.1093/brain/awac145","article_type":"original","publisher":"Oxford University Press","type":"journal_article","day":"01","issue":"8","status":"public","page":"2687-2703","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","oa_version":"Published Version","year":"2022","date_updated":"2025-06-11T13:56:33Z","date_published":"2022-08-01T00:00:00Z","project":[{"call_identifier":"H2020","name":"ISTplus - Postdoctoral Fellowships","_id":"260C2330-B435-11E9-9278-68D0E5697425","grant_number":"754411"}],"acknowledged_ssus":[{"_id":"EM-Fac"},{"_id":"LifeSc"}],"abstract":[{"lang":"eng","text":"Vacuolar-type H+-ATPase (V-ATPase) is a multimeric complex present in a variety of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in pH homeostasis and intracellular signalling pathways. In humans, 22 autosomal genes encode for a redundant set of subunits allowing the composition of diverse V-ATPase complexes with specific properties and expression. Sixteen subunits have been linked to human disease.\r\nHere we describe 26 patients harbouring 20 distinct pathogenic de novo missense ATP6V1A variants, mainly clustering within the ATP synthase α/β family-nucleotide-binding domain. At a mean age of 7 years (extremes: 6 weeks, youngest deceased patient to 22 years, oldest patient) clinical pictures included early lethal encephalopathies with rapidly progressive massive brain atrophy, severe developmental epileptic encephalopathies and static intellectual disability with epilepsy. The first clinical manifestation was early hypotonia, in 70%; 81% developed epilepsy, manifested as developmental epileptic encephalopathies in 58% of the cohort and with infantile spasms in 62%; 63% of developmental epileptic encephalopathies failed to achieve any developmental, communicative or motor skills. Less severe outcomes were observed in 23% of patients who, at a mean age of 10 years and 6 months, exhibited moderate intellectual disability, with independent walking and variable epilepsy. None of the patients developed communicative language. Microcephaly (38%) and amelogenesis imperfecta/enamel dysplasia (42%) were additional clinical features. Brain MRI demonstrated hypomyelination and generalized atrophy in 68%. Atrophy was progressive in all eight individuals undergoing repeated MRIs.</jats:p>\r\n               <jats:p>Fibroblasts of two patients with developmental epileptic encephalopathies showed decreased LAMP1 expression, Lysotracker staining and increased organelle pH, consistent with lysosomal impairment and loss of V-ATPase function. Fibroblasts of two patients with milder disease, exhibited a different phenotype with increased Lysotracker staining, decreased organelle pH and no significant modification in LAMP1 expression. Quantification of substrates for lysosomal enzymes in cellular extracts from four patients revealed discrete accumulation. Transmission electron microscopy of fibroblasts of four patients with variable severity and of induced pluripotent stem cell-derived neurons from two patients with developmental epileptic encephalopathies showed electron-dense inclusions, lipid droplets, osmiophilic material and lamellated membrane structures resembling phospholipids. Quantitative assessment in induced pluripotent stem cell-derived neurons identified significantly smaller lysosomes.\r\nATP6V1A-related encephalopathy represents a new paradigm among lysosomal disorders. It results from a dysfunctional endo-lysosomal membrane protein causing altered pH homeostasis. Its pathophysiology implies intracellular accumulation of substrates whose composition remains unclear, and a combination of developmental brain abnormalities and neurodegenerative changes established during prenatal and early postanal development, whose severity is variably determined by specific pathogenic variants."}],"quality_controlled":"1","volume":145,"language":[{"iso":"eng"}],"external_id":{"isi":["000807770000001"],"pmid":["35675510"]},"department":[{"_id":"GaNo"}],"date_created":"2023-01-12T12:11:45Z","publication_status":"published","main_file_link":[{"url":"https://doi.org/10.1093/brain/awac145","open_access":"1"}],"oa":1,"publication_identifier":{"eissn":["1460-2156"],"issn":["0006-8950"]},"acknowledgement":"We thank all patients and family members for their participation in this study. We thank Melanie Pieraks and Eva Reinthaler (Neurolentech, Austria) for generating the human iPSC lines and\r\nfor performing quality checks. We thank Vanessa Zheden and Daniel Gütl for their excellent technical support in the specimen preparation for transmission electron microscopy and Flavia Leite for preparing the lentiviruses. The support from Electron Microscopy Facility and Molecular Biology Services at IST Austria is greatly acknowledged. We would like to thank Doctors Jane Hurst and Richard Scott for their help in retrieving the detailed clinical information of Patient 17. The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network. See Supplementary Material for Undiagnosed Disease Network consortium details. Genetic information on Patient 23 was made available through access to the data and findings generated by the 100 000 Genomes\r\nProject; www.genomicsengland.co.uk (to K.L.). \r\nThis work was supported by the EU 7th Framework Programme (FP7) under the project DESIRE grant N602531 (to R.G.); the Regione Toscana under the Call for Health 2018 (grant\r\nDECODE-EE) (to R.G.); the ‘Brain Project’ by Fondazione Cassa di Risparmio di Firenze (to R.G.); IRCCS Ospedale Policlinico San Martino 5×1000 and Ricerca Corrente (to A.F. and F.B.). The European Reference Network (ERN) for rare and complex epilepsies (EpiCARE) provided financial support for meetings organization. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between Wellcome and the Department of Health, and the Wellcome Sanger Institute (grant number WT098051). The views expressed in this publication\r\nare those of the author(s) and not necessarily those of Wellcome or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC). This study makes use of DECIPHER (https://www.deciphergenomics.org), which is funded by Wellcome. K.K.-S. was supported by the ISTplus fellowship. ","pmid":1,"ec_funded":1,"intvolume":"       145","isi":1,"publication":"Brain","author":[{"first_name":"Renzo","last_name":"Guerrini","full_name":"Guerrini, Renzo"},{"first_name":"Davide","full_name":"Mei, Davide","last_name":"Mei"},{"last_name":"Szigeti","full_name":"Szigeti, Margit Katalin","first_name":"Margit Katalin","id":"44F4BDC0-F248-11E8-B48F-1D18A9856A87","orcid":"0000-0001-9500-8758"},{"first_name":"Sara","full_name":"Pepe, Sara","last_name":"Pepe"},{"first_name":"Mary Kay","last_name":"Koenig","full_name":"Koenig, Mary Kay"},{"last_name":"Von Allmen","full_name":"Von Allmen, Gretchen","first_name":"Gretchen"},{"first_name":"Megan T","full_name":"Cho, Megan T","last_name":"Cho"},{"first_name":"Kimberly","last_name":"McDonald","full_name":"McDonald, Kimberly"},{"first_name":"Janice","full_name":"Baker, Janice","last_name":"Baker"},{"full_name":"Bhambhani, Vikas","last_name":"Bhambhani","first_name":"Vikas"},{"full_name":"Powis, Zöe","last_name":"Powis","first_name":"Zöe"},{"last_name":"Rodan","full_name":"Rodan, Lance","first_name":"Lance"},{"last_name":"Nabbout","full_name":"Nabbout, Rima","first_name":"Rima"},{"last_name":"Barcia","full_name":"Barcia, Giulia","first_name":"Giulia"},{"full_name":"Rosenfeld, Jill A","last_name":"Rosenfeld","first_name":"Jill A"},{"last_name":"Bacino","full_name":"Bacino, Carlos A","first_name":"Carlos A"},{"last_name":"Mignot","full_name":"Mignot, Cyril","first_name":"Cyril"},{"first_name":"Lillian H","last_name":"Power","full_name":"Power, Lillian H"},{"first_name":"Catharine J","full_name":"Harris, Catharine J","last_name":"Harris"},{"first_name":"Dragan","full_name":"Marjanovic, Dragan","last_name":"Marjanovic"},{"last_name":"Møller","full_name":"Møller, Rikke S","first_name":"Rikke S"},{"first_name":"Trine B","last_name":"Hammer","full_name":"Hammer, Trine B"},{"last_name":"Keski Filppula","full_name":"Keski Filppula, Riikka","first_name":"Riikka"},{"last_name":"Vieira","full_name":"Vieira, Päivi","first_name":"Päivi"},{"full_name":"Hildebrandt, Clara","last_name":"Hildebrandt","first_name":"Clara"},{"first_name":"Stephanie","full_name":"Sacharow, Stephanie","last_name":"Sacharow"},{"first_name":"Luca","full_name":"Maragliano, Luca","last_name":"Maragliano"},{"last_name":"Benfenati","full_name":"Benfenati, Fabio","first_name":"Fabio"},{"last_name":"Lachlan","full_name":"Lachlan, Katherine","first_name":"Katherine"},{"full_name":"Benneche, Andreas","last_name":"Benneche","first_name":"Andreas"},{"full_name":"Petit, Florence","last_name":"Petit","first_name":"Florence"},{"full_name":"de Sainte Agathe, Jean Madeleine","last_name":"de Sainte Agathe","first_name":"Jean Madeleine"},{"first_name":"Barbara","full_name":"Hallinan, Barbara","last_name":"Hallinan"},{"first_name":"Yue","full_name":"Si, Yue","last_name":"Si"},{"first_name":"Ingrid M","full_name":"Wentzensen, Ingrid M","last_name":"Wentzensen"},{"last_name":"Zou","full_name":"Zou, Fanggeng","first_name":"Fanggeng"},{"first_name":"Vinodh","full_name":"Narayanan, Vinodh","last_name":"Narayanan"},{"first_name":"Naomichi","full_name":"Matsumoto, Naomichi","last_name":"Matsumoto"},{"first_name":"Alessandra","last_name":"Boncristiano","full_name":"Boncristiano, Alessandra"},{"first_name":"Giancarlo","last_name":"la Marca","full_name":"la Marca, Giancarlo"},{"full_name":"Kato, Mitsuhiro","last_name":"Kato","first_name":"Mitsuhiro"},{"full_name":"Anderson, Kristin","last_name":"Anderson","first_name":"Kristin"},{"first_name":"Carmen","full_name":"Barba, Carmen","last_name":"Barba"},{"first_name":"Luisa","last_name":"Sturiale","full_name":"Sturiale, Luisa"},{"full_name":"Garozzo, Domenico","last_name":"Garozzo","first_name":"Domenico"},{"last_name":"Bei","full_name":"Bei, Roberto","first_name":"Roberto"},{"last_name":"Masuelli","full_name":"Masuelli, Laura","first_name":"Laura"},{"first_name":"Valerio","full_name":"Conti, Valerio","last_name":"Conti"},{"orcid":"0000-0002-7673-7178","full_name":"Novarino, Gaia","last_name":"Novarino","first_name":"Gaia","id":"3E57A680-F248-11E8-B48F-1D18A9856A87"},{"first_name":"Anna","last_name":"Fassio","full_name":"Fassio, Anna"}],"keyword":["Neurology (clinical)"],"scopus_import":"1"},{"isi":1,"intvolume":"        14","file_date_updated":"2023-01-27T07:53:18Z","publication":"Alzheimer's Research & Therapy","author":[{"full_name":"Martín-Belmonte, Alejandro","last_name":"Martín-Belmonte","first_name":"Alejandro"},{"last_name":"Aguado","full_name":"Aguado, Carolina","first_name":"Carolina"},{"last_name":"Alfaro-Ruiz","full_name":"Alfaro-Ruiz, Rocío","first_name":"Rocío"},{"full_name":"Moreno-Martínez, Ana Esther","last_name":"Moreno-Martínez","first_name":"Ana Esther"},{"full_name":"de la Ossa, Luis","last_name":"de la Ossa","first_name":"Luis"},{"last_name":"Aso","full_name":"Aso, Ester","first_name":"Ester"},{"last_name":"Gómez-Acero","full_name":"Gómez-Acero, Laura","first_name":"Laura"},{"full_name":"Shigemoto, Ryuichi","last_name":"Shigemoto","first_name":"Ryuichi","id":"499F3ABC-F248-11E8-B48F-1D18A9856A87","orcid":"0000-0001-8761-9444"},{"last_name":"Fukazawa","full_name":"Fukazawa, Yugo","first_name":"Yugo"},{"first_name":"Francisco","full_name":"Ciruela, Francisco","last_name":"Ciruela"},{"first_name":"Rafael","full_name":"Luján, Rafael","last_name":"Luján"}],"scopus_import":"1","keyword":["Cognitive Neuroscience","Neurology (clinical)","Neurology"],"oa":1,"publication_identifier":{"issn":["1758-9193"]},"acknowledgement":"We thank Ms. Diane Latawiec for the English revision of the manuscript. Funding sources were the Spanish Ministerio de Economía y Competitividad, Junta de Comunidades de Castilla-La Mancha (Spain), and Life Science Innovation Center at University of Fukui. We thank Centres de Recerca de Catalunya (CERCA) Programme/Generalitat de Catalunya for IDIBELL institutional support. We thank Hitoshi Takagi and Takako Maegawa at the University of Fukui for their technical assistance on SDS-FRL experiments.\r\nThis work was supported by grants from the Spanish Ministerio de Economía y Competitividad (BFU2015-63769-R, RTI2018-095812-B-I00, and PID2021-125875OB-I00) and Junta de Comunidades de Castilla-La Mancha (SBPLY/17/180501/000229 and SBPLY/21/180501/000064) to RL, Life Science Innovation Center at University of Fukui and JSPS KAKENHI (Grant Numbers 16H04662, 19H03323, and 20H05058) to YF, and Margarita Salas fellowship from Ministerio de Universidades and Universidad de Castilla-La Mancha to AMB.","file":[{"success":1,"access_level":"open_access","relation":"main_file","file_name":"2022_AlzheimersResearch_MartinBelmont.pdf","creator":"dernst","file_id":"12413","date_created":"2023-01-27T07:53:18Z","file_size":11013325,"content_type":"application/pdf","checksum":"88e49715ad6a1abf0fdb27efd65368dc","date_updated":"2023-01-27T07:53:18Z"}],"pmid":1,"language":[{"iso":"eng"}],"external_id":{"pmid":["36131327"],"isi":["000857985500001"]},"department":[{"_id":"RySh"}],"date_created":"2023-01-16T09:45:51Z","publication_status":"published","abstract":[{"lang":"eng","text":"Alzheimer’s disease (AD) is characterized by a reorganization of brain activity determining network hyperexcitability and loss of synaptic plasticity. Precisely, a dysfunction in metabotropic GABAB receptor signalling through G protein-gated inwardly rectifying K+ (GIRK or Kir3) channels on the hippocampus has been postulated. Thus, we determined the impact of amyloid-β (Aβ) pathology in GIRK channel density, subcellular distribution, and its association with GABAB receptors in hippocampal CA1 pyramidal neurons from the APP/PS1 mouse model using quantitative SDS-digested freeze-fracture replica labelling (SDS-FRL) and proximity ligation in situ assay (P-LISA). In wild type mice, single SDS-FRL detection revealed a similar dendritic gradient for GIRK1 and GIRK2 in CA1 pyramidal cells, with higher densities in spines, and GIRK3 showed a lower and uniform distribution. Double SDS-FRL showed a co-clustering of GIRK2 and GIRK1 in post- and presynaptic compartments, but not for GIRK2 and GIRK3. Likewise, double GABAB1 and GIRK2 SDS-FRL detection displayed a high degree of co-clustering in nanodomains (40–50 nm) mostly in spines and axon terminals. In APP/PS1 mice, the density of GIRK2 and GIRK1, but not for GIRK3, was significantly reduced along the neuronal surface of CA1 pyramidal cells and in axon terminals contacting them. Importantly, GABAB1 and GIRK2 co-clustering was not present in APP/PS1 mice. Similarly, P-LISA experiments revealed a significant reduction in GABAB1 and GIRK2 interaction on the hippocampus of this animal model. Overall, our results provide compelling evidence showing a significant reduction on the cell surface density of pre- and postsynaptic GIRK1 and GIRK2, but not GIRK3, and a decline in GABAB receptors and GIRK2 channels co-clustering in hippocampal pyramidal neurons from APP/PS1 mice, thus suggesting that a disruption in the GABAB receptor–GIRK channel membrane assembly causes dysregulation in the GABAB signalling via GIRK channels in this AD animal model."}],"article_number":"136","quality_controlled":"1","volume":14,"user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","oa_version":"Published Version","year":"2022","date_updated":"2025-06-11T13:40:00Z","has_accepted_license":"1","date_published":"2022-09-21T00:00:00Z","day":"21","type":"journal_article","publisher":"Springer Nature","tmp":{"short":"CC BY (4.0)","legal_code_url":"https://creativecommons.org/licenses/by/4.0/legalcode","image":"/images/cc_by.png","name":"Creative Commons Attribution 4.0 International Public License (CC-BY 4.0)"},"status":"public","doi":"10.1186/s13195-022-01078-5","article_type":"original","ddc":["570"],"citation":{"short":"A. Martín-Belmonte, C. Aguado, R. Alfaro-Ruiz, A.E. Moreno-Martínez, L. de la Ossa, E. Aso, L. Gómez-Acero, R. Shigemoto, Y. Fukazawa, F. Ciruela, R. Luján, Alzheimer’s Research &#38; Therapy 14 (2022).","mla":"Martín-Belmonte, Alejandro, et al. “Nanoscale Alterations in GABAB Receptors and GIRK Channel Organization on the Hippocampus of APP/PS1 Mice.” <i>Alzheimer’s Research &#38; Therapy</i>, vol. 14, 136, Springer Nature, 2022, doi:<a href=\"https://doi.org/10.1186/s13195-022-01078-5\">10.1186/s13195-022-01078-5</a>.","ieee":"A. Martín-Belmonte <i>et al.</i>, “Nanoscale alterations in GABAB receptors and GIRK channel organization on the hippocampus of APP/PS1 mice,” <i>Alzheimer’s Research &#38; Therapy</i>, vol. 14. Springer Nature, 2022.","apa":"Martín-Belmonte, A., Aguado, C., Alfaro-Ruiz, R., Moreno-Martínez, A. E., de la Ossa, L., Aso, E., … Luján, R. (2022). Nanoscale alterations in GABAB receptors and GIRK channel organization on the hippocampus of APP/PS1 mice. <i>Alzheimer’s Research &#38; Therapy</i>. Springer Nature. <a href=\"https://doi.org/10.1186/s13195-022-01078-5\">https://doi.org/10.1186/s13195-022-01078-5</a>","ama":"Martín-Belmonte A, Aguado C, Alfaro-Ruiz R, et al. Nanoscale alterations in GABAB receptors and GIRK channel organization on the hippocampus of APP/PS1 mice. <i>Alzheimer’s Research &#38; Therapy</i>. 2022;14. doi:<a href=\"https://doi.org/10.1186/s13195-022-01078-5\">10.1186/s13195-022-01078-5</a>","ista":"Martín-Belmonte A, Aguado C, Alfaro-Ruiz R, Moreno-Martínez AE, de la Ossa L, Aso E, Gómez-Acero L, Shigemoto R, Fukazawa Y, Ciruela F, Luján R. 2022. Nanoscale alterations in GABAB receptors and GIRK channel organization on the hippocampus of APP/PS1 mice. Alzheimer’s Research &#38; Therapy. 14, 136.","chicago":"Martín-Belmonte, Alejandro, Carolina Aguado, Rocío Alfaro-Ruiz, Ana Esther Moreno-Martínez, Luis de la Ossa, Ester Aso, Laura Gómez-Acero, et al. “Nanoscale Alterations in GABAB Receptors and GIRK Channel Organization on the Hippocampus of APP/PS1 Mice.” <i>Alzheimer’s Research &#38; Therapy</i>. Springer Nature, 2022. <a href=\"https://doi.org/10.1186/s13195-022-01078-5\">https://doi.org/10.1186/s13195-022-01078-5</a>."},"article_processing_charge":"No","title":"Nanoscale alterations in GABAB receptors and GIRK channel organization on the hippocampus of APP/PS1 mice","month":"09","_id":"12212"},{"abstract":[{"text":"Microglia cells are active players in regulating synaptic development and plasticity in the brain. However, how they influence the normal functioning of synapses is largely unknown. In this study, we characterized the effects of pharmacological microglia depletion, achieved by administration of PLX5622, on hippocampal CA3-CA1 synapses of adult wild type mice. Following microglial depletion, we observed a reduction of spontaneous and evoked glutamatergic activity associated with a decrease of dendritic spine density. We also observed the appearance of immature synaptic features and higher levels of plasticity. Microglia depleted mice showed a deficit in the acquisition of the Novel Object Recognition task. These events were accompanied by hippocampal astrogliosis, although in the absence ofneuroinflammatory condition. PLX-induced synaptic changes were absent in Cx3cr1−/− mice, highlighting the role of CX3CL1/CX3CR1 axis in microglia control of synaptic functioning. Remarkably, microglia repopulation after PLX5622 withdrawal was associated with the recovery of hippocampal synapses and learning functions. Altogether, these data demonstrate that microglia contribute to normal synaptic functioning in the adult brain and that their removal induces reversible changes in organization and activity of glutamatergic synapses.","lang":"eng"}],"license":"https://creativecommons.org/licenses/by-nc/4.0/","quality_controlled":"1","volume":70,"corr_author":"1","language":[{"iso":"eng"}],"date_created":"2022-03-04T08:53:37Z","external_id":{"pmid":["34661306"],"isi":["000708025800001"]},"department":[{"_id":"GaNo"}],"publication_status":"published","publication_identifier":{"issn":["0894-1491"],"eissn":["1098-1136"]},"oa":1,"pmid":1,"acknowledgement":"The work was supported by a grant from MIUR (PRIN 2017HPTFFC_003) to Davide Ragozzino and in part by funds to Silvia Di Angelantonio (CrestOptics-IIT JointLab for Advanced Microscopy) and Daniele Caprioli (Istituto Pasteur-Fondazione Cenci Bolognetti). Bernadette Basilico, and Laura Ferrucci were supported by the PhD program in Clinical-Experimental Neuroscience and Psychiatry, Sapienza University, Rome; Caterina Sanchini was supported by the PhD program in Life Science, Sapienza University, Rome and by the Italian Institute of Technology, Rome. The authors thank Alessandro Felici, Claudia Valeri, Arsenio Armagno, and Senthilkumar Deivasigamani for help with animal husbandry and transgenic colonies management. They also wish to thank Piotr Bregestovski and Michal Schwartz for helpful discussions and criticism. PLX5622 was provided under Materials Transfer Agreement by Plexxikon Inc. (Berkeley, CA). Open Access Funding provided by Universita degli Studi di Roma La Sapienza within the CRUI-CARE Agreement.","file":[{"success":1,"access_level":"open_access","relation":"main_file","file_size":5340294,"creator":"dernst","file_name":"2021_Glia_Basilico.pdf","date_created":"2022-03-04T08:55:27Z","file_id":"10819","date_updated":"2022-03-04T08:55:27Z","content_type":"application/pdf","checksum":"f10a897290e66c0a062e04ba91db6c17"}],"isi":1,"intvolume":"        70","publication":"Glia","file_date_updated":"2022-03-04T08:55:27Z","author":[{"orcid":"0000-0003-1843-3173","id":"36035796-5ACA-11E9-A75E-7AF2E5697425","first_name":"Bernadette","last_name":"Basilico","full_name":"Basilico, Bernadette"},{"last_name":"Ferrucci","full_name":"Ferrucci, Laura","first_name":"Laura"},{"first_name":"Patrizia","full_name":"Ratano, Patrizia","last_name":"Ratano"},{"first_name":"Maria T.","last_name":"Golia","full_name":"Golia, Maria T."},{"last_name":"Grimaldi","full_name":"Grimaldi, Alfonso","first_name":"Alfonso"},{"last_name":"Rosito","full_name":"Rosito, Maria","first_name":"Maria"},{"last_name":"Ferretti","full_name":"Ferretti, Valentina","first_name":"Valentina"},{"first_name":"Ingrid","last_name":"Reverte","full_name":"Reverte, Ingrid"},{"last_name":"Sanchini","full_name":"Sanchini, Caterina","first_name":"Caterina"},{"first_name":"Maria C.","last_name":"Marrone","full_name":"Marrone, Maria C."},{"full_name":"Giubettini, Maria","last_name":"Giubettini","first_name":"Maria"},{"first_name":"Valeria","last_name":"De Turris","full_name":"De Turris, Valeria"},{"last_name":"Salerno","full_name":"Salerno, Debora","first_name":"Debora"},{"first_name":"Stefano","full_name":"Garofalo, Stefano","last_name":"Garofalo"},{"first_name":"Marie‐Kim","full_name":"St‐Pierre, Marie‐Kim","last_name":"St‐Pierre"},{"last_name":"Carrier","full_name":"Carrier, Micael","first_name":"Micael"},{"last_name":"Renzi","full_name":"Renzi, Massimiliano","first_name":"Massimiliano"},{"last_name":"Pagani","full_name":"Pagani, Francesca","first_name":"Francesca"},{"first_name":"Brijesh","last_name":"Modi","full_name":"Modi, Brijesh"},{"first_name":"Marcello","last_name":"Raspa","full_name":"Raspa, Marcello"},{"full_name":"Scavizzi, Ferdinando","last_name":"Scavizzi","first_name":"Ferdinando"},{"first_name":"Cornelius T.","last_name":"Gross","full_name":"Gross, Cornelius T."},{"first_name":"Silvia","full_name":"Marinelli, Silvia","last_name":"Marinelli"},{"full_name":"Tremblay, Marie‐Ève","last_name":"Tremblay","first_name":"Marie‐Ève"},{"first_name":"Daniele","full_name":"Caprioli, Daniele","last_name":"Caprioli"},{"last_name":"Maggi","full_name":"Maggi, Laura","first_name":"Laura"},{"full_name":"Limatola, Cristina","last_name":"Limatola","first_name":"Cristina"},{"first_name":"Silvia","last_name":"Di Angelantonio","full_name":"Di Angelantonio, Silvia"},{"first_name":"Davide","last_name":"Ragozzino","full_name":"Ragozzino, Davide"}],"scopus_import":"1","keyword":["Cellular and Molecular Neuroscience","Neurology"],"citation":{"mla":"Basilico, Bernadette, et al. “Microglia Control Glutamatergic Synapses in the Adult Mouse Hippocampus.” <i>Glia</i>, vol. 70, no. 1, Wiley, 2022, pp. 173–95, doi:<a href=\"https://doi.org/10.1002/glia.24101\">10.1002/glia.24101</a>.","short":"B. Basilico, L. Ferrucci, P. Ratano, M.T. Golia, A. Grimaldi, M. Rosito, V. Ferretti, I. Reverte, C. Sanchini, M.C. Marrone, M. Giubettini, V. De Turris, D. Salerno, S. Garofalo, M. St‐Pierre, M. Carrier, M. Renzi, F. Pagani, B. Modi, M. Raspa, F. Scavizzi, C.T. Gross, S. Marinelli, M. Tremblay, D. Caprioli, L. Maggi, C. Limatola, S. Di Angelantonio, D. Ragozzino, Glia 70 (2022) 173–195.","ieee":"B. Basilico <i>et al.</i>, “Microglia control glutamatergic synapses in the adult mouse hippocampus,” <i>Glia</i>, vol. 70, no. 1. Wiley, pp. 173–195, 2022.","apa":"Basilico, B., Ferrucci, L., Ratano, P., Golia, M. T., Grimaldi, A., Rosito, M., … Ragozzino, D. (2022). Microglia control glutamatergic synapses in the adult mouse hippocampus. <i>Glia</i>. Wiley. <a href=\"https://doi.org/10.1002/glia.24101\">https://doi.org/10.1002/glia.24101</a>","ama":"Basilico B, Ferrucci L, Ratano P, et al. Microglia control glutamatergic synapses in the adult mouse hippocampus. <i>Glia</i>. 2022;70(1):173-195. doi:<a href=\"https://doi.org/10.1002/glia.24101\">10.1002/glia.24101</a>","ista":"Basilico B, Ferrucci L, Ratano P, Golia MT, Grimaldi A, Rosito M, Ferretti V, Reverte I, Sanchini C, Marrone MC, Giubettini M, De Turris V, Salerno D, Garofalo S, St‐Pierre M, Carrier M, Renzi M, Pagani F, Modi B, Raspa M, Scavizzi F, Gross CT, Marinelli S, Tremblay M, Caprioli D, Maggi L, Limatola C, Di Angelantonio S, Ragozzino D. 2022. Microglia control glutamatergic synapses in the adult mouse hippocampus. Glia. 70(1), 173–195.","chicago":"Basilico, Bernadette, Laura Ferrucci, Patrizia Ratano, Maria T. Golia, Alfonso Grimaldi, Maria Rosito, Valentina Ferretti, et al. “Microglia Control Glutamatergic Synapses in the Adult Mouse Hippocampus.” <i>Glia</i>. Wiley, 2022. <a href=\"https://doi.org/10.1002/glia.24101\">https://doi.org/10.1002/glia.24101</a>."},"article_processing_charge":"No","month":"01","title":"Microglia control glutamatergic synapses in the adult mouse hippocampus","_id":"10818","article_type":"original","doi":"10.1002/glia.24101","ddc":["570"],"issue":"1","publisher":"Wiley","type":"journal_article","day":"01","tmp":{"short":"CC BY-NC (4.0)","legal_code_url":"https://creativecommons.org/licenses/by-nc/4.0/legalcode","name":"Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)","image":"/images/cc_by_nc.png"},"status":"public","page":"173-195","user_id":"c635000d-4b10-11ee-a964-aac5a93f6ac1","date_updated":"2024-10-09T21:04:02Z","year":"2022","oa_version":"Published Version","date_published":"2022-01-01T00:00:00Z","has_accepted_license":"1"}]