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Article

Clinical and cellular phenotypes associated with sequestosome 1 (SQSTM1) mutations.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Dec 2006

Leach Robin J, Singer Frederick R, Ench Yasmin, Wisdom Julie H, Pina Diana S, Johnson-Pais Teresa L

Abstract excerpt

Familial Paget's disease of bone has been shown to be associated with mutations in the ubiquitin-associated (UBA) domain of the sequestosome 1 (SQSTM1) gene. We have clinical findings on five families with diverse racial and ethnic backgrounds who all harbor SQSTM1 UBA domain mutations (P387L, P392L, D391fsX394, P392fsX394). Intrafamilial expressivity was highly variable. The probands in two of the families had...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17229008
DOI: 10.1359/jbmr.06s208

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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