Article

Disruption of ER ion homeostasis maintained by an ER anion channel contributes to ALS-like pathologies

2022-03-29

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 CLCC1 (Chloride Channel CLIC Like 1) to ALS (amyotrophic lateral sclerosis)-like pathologies. We demonstrate that CLCC1 is a pore-forming component of an ER anion channel and that ALS-associated mutations impair the...

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Literature Corpus work: 4d135011-b675-51fc-b91c-16390ee3d038
DOI: 10.21203/rs.3.rs-1499219/v1

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