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Article

SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.

Experimental cell research - 1 Jul 2014

Rea Sarah L, Majcher Veronika, Searle Mark S, Layfield Rob

Abstract excerpt

Paget disease of bone (PDB) is a skeletal disorder common in Western Europe but extremely rare in the Indian subcontinent and Far East. The condition has a strong genetic element with mutations affecting the SQSTM1 gene, encoding the p62 protein, frequently identified. Recently SQSTM1 mutations have also been reported in a small number of patients with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar...

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Source

Identifiers

PMID: 24486447
DOI: 10.1016/j.yexcr.2014.01.020

Genes

SQSTM1

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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