Article
Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity.
Nature communications - 6 Jun 2017
Woo Jung-A A, Liu Tian, Trotter Courtney, Fang Cenxiao C, De Narvaez Emillio, LePochat Patrick, Maslar Drew, Bukhari Anusha, Zhao Xingyu, Deonarine Andrew, Westerheide Sandy D, Kang David E
Abstract excerpt
Although multiple CHCHD10 mutations are associated with the spectrum of familial and sporadic frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) diseases, neither the normal function of endogenous CHCHD10 nor its role in the pathological milieu (that is, TDP-43 pathology) of FTD/ALS have been investigated. In this study, we made a series of observations utilizing Caenorhabditis elegans models,...
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