C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.

doi:10.1038/nn.4272

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Article

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.

Nature neuroscience - 1 May 2016

Zhang Yong-Jie, Gendron Tania F, Grima Jonathan C, Sasaguri Hiroki, Jansen-West Karen, Xu Ya-Fei, Katzman Rebecca B, Gass Jennifer, Murray Melissa E, Shinohara Mitsuru, Lin Wen-Lang, Garrett Aliesha, Stankowski Jeannette N, Daughrity Lillian, Tong Jimei, Perkerson Emilie A, Yue Mei, Chew Jeannie, Castanedes-Casey Monica, Kurti Aishe, Wang Zizhao S, Liesinger Amanda M, Baker Jeremy D, Jiang Jie, Lagier-Tourenne Clotilde, Edbauer Dieter, Cleveland Don W, Rademakers Rosa, Boylan Kevin B, Bu Guojun, Link Christopher D, Dickey Chad A, Rothstein Jeffrey D, Dickson Dennis W, Fryer John D, Petrucelli Leonard

Abstract excerpt

Neuronal inclusions of poly(GA), a protein unconventionally translated from G4C2 repeat expansions in C9ORF72, are abundant in patients with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) caused by this mutation. To investigate poly(GA) toxicity, we generated mice that exhibit poly(GA) pathology, neurodegeneration and behavioral abnormalities reminiscent of FTD and ALS. These phenotypes...

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Identifiers

PMID: 26998601
DOI: 10.1038/nn.4272
PMCID: PMC5138863

Genes

C9ORF72
XPC

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