Article
Disruption of ER ion homeostasis maintained by an ER anion channel CLCC1 contributes to ALS-like pathologies.
Cell research - 1 Jul 2023
Guo Liang, Mao Qionglei, He Ji, Liu Xiaoling, Piao Xuejiao, Luo Li, Hao Xiaoxu, Yu Hanzhi, Song Qiang, Xiao Bailong, Fan Dongsheng, Gao Zhaobing, Jia Yichang
Abstract excerpt
Although anion channel activities have been demonstrated in sarcoplasmic reticulum/endoplasmic reticulum (SR/ER), their molecular identities and functions remain unclear. Here, we link rare variants of Chloride Channel CLIC Like 1 (CLCC1) to amyotrophic lateral sclerosis (ALS)-like pathologies. We demonstrate that CLCC1 is a pore-forming component of an ER anion channel and that ALS-associated mutations impair...
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