The C9ORF72 repeat expansion disrupts nucleocytoplasmic transport

A GGGGCC (G(4)C(2)) hexanucleotide repeat expansion (HRE) in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Recent studies support an HRE RNA gain-of-function mechanism of neurotoxicity, and we previously identified protein interactors for...

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Foilsithe in:Nature
Main Authors: Zhang, Ke, Donnelly, Christopher J., Haeusler, Aaron R., Grima, Jonathan C., Machamer, James B., Steinwald, Peter, Daley, Elizabeth L., Miller, Sean J., Cunningham, Kathleen M., Vidensky, Svetlana, Gupta, Saksham, Thomas, Michael A., Hong, Ingie, Chiu, Shu-Ling, Huganir, Richard L., Ostrow, Lyle W., Matunis, Michael J., Wang, Jiou, Sattler, Rita, Lloyd, Thomas E., Rothstein, Jeffrey D.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2015
Ábhair:
Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4800742/
https://ncbi.nlm.nih.gov/pubmed/26308891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature14973
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