Reduced C9ORF72 function exacerbates gain-of-toxicity from ALS/FTD-causing repeat expansion in C9orf72

Hexanucleotide expansions in C9orf72 are the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). While repeat expansion has been established to generate toxic products, mRNAs encoding the C9ORF72 protein, a predicted guanine exchange factor, are also...

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Detaylı Bibliyografya
Yayımlandı:Nat Neurosci
Asıl Yazarlar: Zhu, Qiang, Jiang, Jie, Gendron, Tania F., McAlonis-Downes, Melissa, Jiang, Lulin, Taylor, Amy, Garcia, Sandra Diaz, Dastidar, Somasish Ghosh, Rodriguez, Maria J., King, Patrick, Zhang, Yongjie, La Spada, Albert R., Xu, Huaxi, Petrucelli, Leonard, Ravits, John, Da Cruz, Sandrine, Lagier-Tourenne, Clotilde, Cleveland, Don W.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2020
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7384305/
https://ncbi.nlm.nih.gov/pubmed/32284607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41593-020-0619-5
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