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Article

Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease.

Proceedings of the National Academy of Sciences of the United States of America - 23 Dec 2003

Yamanaka Koji, Vande Velde Christine, Eymard-Pierre Eleonore, Bertini Enrico, Boespflug-Tanguy Odile, Cleveland Don W

Abstract excerpt

Mutations in ALS2, carrying three putative guanine exchange factor (GEF) domains, are causative for a juvenile, autosomal recessive form of amyotrophic lateral sclerosis (ALS), primary lateral sclerosis, and infantile-ascending hereditary spastic paralysis. Endogenous ALS2 is shown here to be enriched in nervous tissue and to be peripherally bound to the cytoplasmic face of endosomal membranes, an association...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 14668431
DOI: 10.1073/pnas.2635267100
PMCID: PMC307689

Genes

ALS2
RCC1

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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