GGGGCC repeat expansion in C9ORF72 compromises nucleocytoplasmic transport

GGGGCC (G(4)C(2)) repeat expansion in a noncoding region of C9ORF72 is the most common cause of sporadic and familial forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)(1,2). The basis for pathogenesis is unknown. To capture the consequences of G(4)C(2) repeat expansion i...

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Gepubliceerd in:Nature
Hoofdauteurs: Freibaum, Brian D., Lu, Yubing, Lopez-Gonzalez, Rodrigo, Kim, Nam Chul, Almeida, Sandra, Lee, Kyung-Ha, Badders, Nisha, Valentine, Marc, Miller, Bruce L., Wong, Philip C., Petrucelli, Leonard, Kim, Hong Joo, Gao, Fen-Biao, Taylor, J. Paul
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2015
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4631399/
https://ncbi.nlm.nih.gov/pubmed/26308899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature14974
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