C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy

TAR DNA-binding protein 43 (TDP-43) inclusions are a pathological hallmark of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), including cases caused by G(4)C(2) repeat expansions in the C9orf72 gene (c9FTD/ALS). Providing mechanistic insight into the link between C9orf72 mutat...

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Publicado no:Sci Transl Med
Main Authors: Cook, Casey N., Wu, Yanwei, Odeh, Hana M., Gendron, Tania F., Jansen-West, Karen, del Rosso, Giulia, Yue, Mei, Jiang, Peizhou, Gomes, Edward, Tong, Jimei, Daughrity, Lillian M., Avendano, Nicole M., Castanedes-Casey, Monica, Shao, Wei, Oskarsson, Björn, Tomassy, Giulio S., McCampbell, Alexander, Rigo, Frank, Dickson, Dennis W., Shorter, James, Zhang, Yong-Jie, Petrucelli, Leonard
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7989020/
https://ncbi.nlm.nih.gov/pubmed/32878979
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.abb3774
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