Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.

doi:10.1359/JBMR.0403015

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Article

Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jul 2004

Hocking Lynne J, Lucas Gavin J A, Daroszewska Anna, Cundy Tim, Nicholson Geoff C, Donath Judit, Walsh John P, Finlayson Catriona, Cavey James R, Ciani Barbara, Sheppard Paul W, Searle Mark S, Layfield Robert, Ralston Stuart H

Abstract excerpt

UNLABELLED: Three novel missense mutations of SQSTM1 were identified in familial PDB, all affecting the UBA domain. Functional and structural analysis showed that disease severity was related to the type of mutation but was unrelated to the polyubiquitin-binding properties of the mutant UBA domain peptides. INTRODUCTION: Mutations affecting the ubiquitin-associated (UBA) domain of Sequestosome 1 (SQSTM1) gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15176995
DOI: 10.1359/JBMR.0403015

Genes

SQSTM1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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