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Article

Sigma-1 receptor is a key genetic modulator in amyotrophic lateral sclerosis.

Human molecular genetics - 13 Mar 2020

Couly Simon, Khalil Bilal, Viguier Véronique, Roussel Julien, Maurice Tangui, Liévens Jean-Charles

Abstract excerpt

Sigma-1 receptor (S1R) is an endoplasmic reticulum (ER) chaperone that not only regulates mitochondrial respiration but also controls cellular defense against ER and oxidative stress. This makes S1R a potential therapeutic target in amyotrophic lateral sclerosis (ALS). Especially, as a missense mutation E102Q in S1R has been reported in few familial ALS cases. However, the pathogenicity of S1RE102Q and the...

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PMID: 31696229
DOI: 10.1093/hmg/ddz267

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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