{"pmid":1,"date_updated":"2024-07-29T08:06:19Z","article_type":"original","publisher":"Wiley","article_processing_charge":"No","scopus_import":"1","quality_controlled":"1","title":"Hereditary amyloidosis: Insights into a fibrinogen A variant protein","user_id":"2DF688A6-F248-11E8-B48F-1D18A9856A87","type":"journal_article","publication_status":"epub_ahead","publication_identifier":{"issn":["0887-3585"],"eissn":["1097-0134"]},"department":[{"_id":"GaNo"}],"status":"public","external_id":{"pmid":["39031927"]},"day":"19","author":[{"last_name":"Cattaneo","full_name":"Cattaneo, Elizabeth R","first_name":"Elizabeth R"},{"first_name":"Romina A","full_name":"Gisonno, Romina A","id":"a9e08d76-6a98-11ec-8f7b-c777fe5ca519","last_name":"Gisonno"},{"last_name":"Abba","first_name":"Martín C","full_name":"Abba, Martín C"},{"first_name":"Marianela","full_name":"Santana, Marianela","last_name":"Santana"},{"first_name":"Silvana A","full_name":"Rosú, Silvana A","last_name":"Rosú"},{"last_name":"Nucifora","full_name":"Nucifora, Elsa","first_name":"Elsa"},{"last_name":"Aguirre","first_name":"María A","full_name":"Aguirre, María A"},{"last_name":"Giordani","full_name":"Giordani, María C","first_name":"María C"},{"last_name":"Tricerri","full_name":"Tricerri, M. Alejandra","first_name":"M. Alejandra"},{"full_name":"Ramella, Nahuel A","first_name":"Nahuel A","last_name":"Ramella"}],"doi":"10.1002/prot.26732","_id":"17331","oa_version":"None","publication":"Proteins: Structure, Function and Bioinformatics","abstract":[{"text":"Amyloidosis are a group of diseases in which soluble proteins aggregate and deposit in fibrillar conformation extracellularly in tissues. The effectiveness of therapeutic strategies depends on the specific protein involved, being crucial to accurately determine its nature. Moreover, following the diagnosis, the search for the mutation within relatives allows the clinical advice. Here we report the precise diagnosis and explored the possible reasons of the structural pathogenicity for a renal amyloidosis related to a fibrinogen Aα-chain variant. Whole-exome sequencing and GATK calling pipeline were leveraged to characterize the protein variant present in a patient with kidney failure. Bioinformatics strategies were applied to suggest potential explanations of the variants aggregation. Our pipeline allowed the identification of a single-point variant of fibrinogen Aα-chain, which opened the possibility of curative transplantation. In silico structural analysis suggested that the pathogenicity of the variant may be attributed to a heightened susceptibility to yield a peptide prone to deposit as an oligomer with a β-sheet structure. Exploiting the comprehensive coverage of whole-genome sequencing, we managed to fill a vacant stage in the diagnosis of hereditary amyloidosis and to stimulate the advancement in biomedicine.","lang":"eng"}],"date_created":"2024-07-28T22:01:10Z","year":"2024","language":[{"iso":"eng"}],"acknowledgement":"The authors acknowledge Rosana del Cid for her help with English corrections, Mario Ramos for the figure editions, and Gabriela Finarelli for technical assistance. S.A. Rosú, N.A. Ramella, and M.A. Tricerri acknowledge support from Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) (Grant PIP 11220200102381), Agencia Nacional de Promoción Científica y Tecnológica (PICT 2019-03592), Universidad Nacional de La Plata (UNLP) (Grants M234 and PPID M014), and Fundación Florencio Fiorini. The authors warmly thank M.P. for her willingness to conduct these studies.","citation":{"mla":"Cattaneo, Elizabeth R., et al. “Hereditary Amyloidosis: Insights into a Fibrinogen A Variant Protein.” <i>Proteins: Structure, Function and Bioinformatics</i>, Wiley, 2024, doi:<a href=\"https://doi.org/10.1002/prot.26732\">10.1002/prot.26732</a>.","short":"E.R. Cattaneo, R.A. Gisonno, M.C. Abba, M. Santana, S.A. Rosú, E. Nucifora, M.A. Aguirre, M.C. Giordani, M.A. Tricerri, N.A. Ramella, Proteins: Structure, Function and Bioinformatics (2024).","ista":"Cattaneo ER, Gisonno RA, Abba MC, Santana M, Rosú SA, Nucifora E, Aguirre MA, Giordani MC, Tricerri MA, Ramella NA. 2024. Hereditary amyloidosis: Insights into a fibrinogen A variant protein. Proteins: Structure, Function and Bioinformatics.","chicago":"Cattaneo, Elizabeth R, Romina A Gisonno, Martín C Abba, Marianela Santana, Silvana A Rosú, Elsa Nucifora, María A Aguirre, María C Giordani, M. Alejandra Tricerri, and Nahuel A Ramella. “Hereditary Amyloidosis: Insights into a Fibrinogen A Variant Protein.” <i>Proteins: Structure, Function and Bioinformatics</i>. Wiley, 2024. <a href=\"https://doi.org/10.1002/prot.26732\">https://doi.org/10.1002/prot.26732</a>.","ama":"Cattaneo ER, Gisonno RA, Abba MC, et al. Hereditary amyloidosis: Insights into a fibrinogen A variant protein. <i>Proteins: Structure, Function and Bioinformatics</i>. 2024. doi:<a href=\"https://doi.org/10.1002/prot.26732\">10.1002/prot.26732</a>","ieee":"E. R. Cattaneo <i>et al.</i>, “Hereditary amyloidosis: Insights into a fibrinogen A variant protein,” <i>Proteins: Structure, Function and Bioinformatics</i>. Wiley, 2024.","apa":"Cattaneo, E. R., Gisonno, R. A., Abba, M. C., Santana, M., Rosú, S. A., Nucifora, E., … Ramella, N. A. (2024). Hereditary amyloidosis: Insights into a fibrinogen A variant protein. <i>Proteins: Structure, Function and Bioinformatics</i>. Wiley. <a href=\"https://doi.org/10.1002/prot.26732\">https://doi.org/10.1002/prot.26732</a>"},"month":"07","date_published":"2024-07-19T00:00:00Z"}