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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Bibliografiset tiedot
Julkaisussa:Nat Neurosci
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2020
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Article
Linkit: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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