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PIAS1 S510G variant acts as a genetic modifier of spinocerebellar ataxia type 3 by selectively impairing mutant ataxin-3 proteostasis.
Chang YC, Tsai YC, Chang EC, Hsu YC, Huang YR, Lee YH, Tsai YS, Chen YQ, Lee YC, Liao YC, Kuo JC, Su MT, Yang UC, Chern Y, Cheng TH. Chang YC, et al. Among authors: yang uc. Int J Biochem Cell Biol. 2024 Nov;176:106662. doi: 10.1016/j.biocel.2024.106662. Epub 2024 Sep 16. Int J Biochem Cell Biol. 2024. PMID: 39293559 Free article.
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
Tsai PC, Soong BW, Mademan I, Huang YH, Liu CR, Hsiao CT, Wu HT, Liu TT, Liu YT, Tseng YT, Lin KP, Yang UC, Chung KW, Choi BO, Nicholson GA, Kennerson ML, Chan CC, De Jonghe P, Cheng TH, Liao YC, Züchner S, Baets J, Lee YC. Tsai PC, et al. Among authors: yang uc. Brain. 2017 May 1;140(5):1252-1266. doi: 10.1093/brain/awx058. Brain. 2017. PMID: 28369220 Free PMC article.
48 results