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Article

The ALS-related σ1R E102Q Mutant Eludes Ligand Control and Exhibits Anomalous Response to Calcium.

International journal of molecular sciences - 4 Oct 2020

Rodríguez-Muñoz María, Cortés-Montero Elsa, Garzón-Niño Javier, Sánchez-Blázquez Pilar

Abstract excerpt

Sigma receptor type 1 (σ1R) is a transmembrane protein expressed throughout the central nervous system and in certain peripheral tissues. The human σ1R E102Q mutation causes juvenile amyotrophic lateral sclerosis (ALS), likely by inducing a series of alterations in calcium efflux from the endoplasmic reticulum (ER) to mitochondria that affects calcium homeostasis and cellular survival. Here, we report the...

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Identifiers

PMID: 33020464
DOI: 10.3390/ijms21197339
PMCID: PMC7582951

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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