Article

Link ER ion homeostasis maintained by an ER anion channel to ALS

2021-05-27

Abstract excerpt

<title>Abstract</title> <p>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). We demonstrate that CLCC1 is a pore-forming component of an ER anion channel and that ALS-associated mutations...

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Literature Corpus work: 850cfbc7-413d-5f6b-ae1d-6dcc3481d992
DOI: 10.21203/rs.3.rs-536643/v1

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