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Article

The role of SIGMAR1 gene mutation and mitochondrial dysfunction in amyotrophic lateral sclerosis.

Journal of pharmacological sciences - 1 Jan 2015

Fukunaga Kohji, Shinoda Yasuharu, Tagashira Hideaki

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) patients exhibit diverse pathologies such as endoplasmic reticulum (ER) stress and mitochondrial dysfunction in motor neurons. Five to ten percent of patients have familial ALS, a form of the disease caused by mutations in ALS-related genes, while sporadic forms of the disease occur in 90-95% of patients. Recently, it was reported that familial ALS patients exhibit a missense...

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Source

Identifiers

PMID: 25704016
DOI: 10.1016/j.jphs.2014.12.012

Genes

SIGMAR1

Provenance

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.

Related research

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The role of SIGMAR1 gene mutation and mitochondrial dysfunction in amyotrophic lateral sclerosis.PMID 25704016Read ↗

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Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.Semantic proximity Read ↗

SIGMAR1 targets AMPK/ULK1 pathway to inhibit SH-SY5Y cell apoptosis by regulating endoplasmic reticulum stress and autophagy.Semantic proximity Read ↗

Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.Semantic proximity Read ↗

Deleterious Sequestosome 1 mutations G262R and P438L in amyotrophic lateral sclerosis cause autophagy and oxidative stress imbalance.Semantic proximity Read ↗

Methyl pyruvate rescues mitochondrial damage caused by SIGMAR1 mutation related to amyotrophic lateral sclerosisSemantic proximity Read ↗

Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.Semantic proximity Read ↗

Emerging Benefits: Pathophysiological Functions and Target Drugs of the Sigma-1 Receptor in Neurodegenerative DiseasesSemantic proximity Read ↗

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