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Article

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

Brain : a journal of neurology - 1 Aug 2013

Saccon Rachele A, Bunton-Stasyshyn Rosie K A, Fisher Elizabeth M C, Fratta Pietro

Abstract excerpt

Mutations in the gene superoxide dismutase 1 (SOD1) are causative for familial forms of the neurodegenerative disease amyotrophic lateral sclerosis. When the first SOD1 mutations were identified they were postulated to give rise to amyotrophic lateral sclerosis through a loss of function mechanism, but experimental data soon showed that the disease arises from a--still unknown--toxic gain of function, and the...

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Identifiers

PMID: 23687121
DOI: 10.1093/brain/awt097
PMCID: PMC3722346

Genes

SOD1

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.

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