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Article

The Implications of the Sequestosome 1 Mutation P392L in Patients with Paget's Disease in a United States Cohort.

Calcified tissue international - 1 May 2016

Seton Margaret, Hansen Marc, Solomon Daniel H

Abstract excerpt

Paget's disease of bone (PDB) is associated with a germline mutation in Sequestosome1/p62 (SQSTM1) found in ≤16 % of sporadic cases worldwide, and in 19-46 % of those studied with familial PDB. The P392L is the most prevalent mutation identified to date. This mutation by itself does not confer PDB or define the phenotype of PDB in a given person. Environmental determinants remain elusive, although increasing age...

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Source

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Identifiers

PMID: 26713335
DOI: 10.1007/s00223-015-0103-5
PMCID: PMC4847721

Genes

SQSTM1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The Implications of the Sequestosome 1 Mutation P392L in Patients with Paget's Disease in a United States Cohort.PMID 26713335Read ↗

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Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.Semantic proximity Read ↗

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Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.Semantic proximity Read ↗

Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).Semantic proximity Read ↗

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