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Article

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Neurology - 9 Oct 2012

Rubino Elisa, Rainero Innocenzo, Chiò Adriano, Rogaeva Ekaterina, Galimberti Daniela, Fenoglio Pierpaola, Grinberg Yakov, Isaia Giancarlo, Calvo Andrea, Gentile Salvatore, Bruni Amalia Cecilia, St George-Hyslop Peter Henry, Scarpini Elio, Gallone Salvatore, Pinessi Lorenzo

Abstract excerpt

OBJECTIVE: There is increasing evidence that common genetic risk factors underlie frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Recently, mutations in the sequestosome 1 (SQSTM1) gene, which encodes p62 protein, have been reported in patients with ALS. P62 is a multifunctional adapter protein mainly involved in selective autophagy, oxidative stress response, and cell signaling...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Amyotrophic Lateral Sclerosis

Share to Frontotemporal Lobar Degeneration

Share to Mutation, Missense

Share to Promoter Regions, Genetic

Share to Sequestosome-1 Protein

Source

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Identifiers

PMID: 22972638
DOI: 10.1212/WNL.0b013e31826e25df
PMCID: PMC3655323

Genes

SQSTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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