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Article

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.

Acta neuropathologica - 1 Apr 2013

Teyssou Elisa, Takeda Takahiro, Lebon Vincent, Boillée Séverine, Doukouré Brahima, Bataillon Guillaume, Sazdovitch Véronique, Cazeneuve Cécile, Meininger Vincent, LeGuern Eric, Salachas François, Seilhean Danielle, Millecamps Stéphanie

Abstract excerpt

Mutations in SQSTM1 encoding the sequestosome 1/p62 protein have recently been identified in familial and sporadic cases of amyotrophic lateral sclerosis (ALS). p62 is a component of the ubiquitin inclusions detected in degenerating neurons in ALS patients. We sequenced SQSTM1 in 90 French patients with familial ALS (FALS) and 74 autopsied ALS cases with sporadic ALS (SALS). We identified, at the heterozygote...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23417734
DOI: 10.1007/s00401-013-1090-0

Genes

SQSTM1

Variants

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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