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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Vydáno v:Nature
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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On-line přístup: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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