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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Pubblicato in:Nat Neurosci
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2020
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Article
Accesso online: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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