Article
Two FTD-ALS genes converge on the endosomal pathway to induce TDP-43 pathology and degeneration.
Science (New York, N.Y.) - 7 Oct 2022
Shao Wei, Todd Tiffany W, Wu Yanwei, Jones Caroline Y, Tong Jimei, Jansen-West Karen, Daughrity Lillian M, Park Jinyoung, Koike Yuka, Kurti Aishe, Yue Mei, Castanedes-Casey Monica, Del Rosso Giulia, Dunmore Judith A, Zanetti Alepuz Desiree, Oskarsson Björn, Dickson Dennis W, Cook Casey N, Prudencio Mercedes, Gendron Tania F, Fryer John D, Zhang Yong-Jie, Petrucelli Leonard
Abstract excerpt
Frontotemporal dementia and amyotrophic lateral sclerosis (FTD-ALS) are associated with both a repeat expansion in the C9orf72 gene and mutations in the TANK-binding kinase 1 (TBK1) gene. We found that TBK1 is phosphorylated in response to C9orf72 poly(Gly-Ala) [poly(GA)] aggregation and sequestered into inclusions, which leads to a loss of TBK1 activity and contributes to neurodegeneration. When we reduced TBK1...
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