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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Published 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.
Format: Artigo
Language:Inglês
Published: 2015
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Online Access: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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