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Article

Loss of ubiquitin binding is a unifying mechanism by which mutations of SQSTM1 cause Paget's disease of bone.

Calcified tissue international - 1 May 2006

Cavey J R, Ralston S H, Sheppard P W, Ciani B, Gallagher T R A, Long J E, Searle M S, Layfield R

Abstract excerpt

Ubiquitin-associated (UBA) domain mutations of SQSTM1 are an important cause of Paget's disease of bone (PDB), which is a human skeletal disorder characterized by abnormal bone turnover. We previously showed that, when introduced into the full-length SQSTM1 protein, the disease-causing P392L, M404V, G411S, and G425R missense mutations and the E396X truncating mutation (representative of all of the SQSTM1...

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Topics

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16691492
DOI: 10.1007/s00223-005-1299-6

Genes

SQSTM1

Variants

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.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Loss of ubiquitin binding is a unifying mechanism by which mutations of SQSTM1 cause Paget's disease of bone.PMID 16691492Read ↗

Loss of Ubiquitin-Binding Associated With Paget's Disease of Bone p62 (<i>SQSTM1</i>) MutationsSemantic proximity Read ↗

Characterization of a non-UBA domain missense mutation of sequestosome 1 (SQSTM1) in Paget's disease of bone.Semantic proximity Read ↗

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

SQSTM1 and Paget's disease of bone.Semantic proximity Read ↗

Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function.Semantic proximity Read ↗

Structure of the ubiquitin-associated domain of p62 (SQSTM1) and implications for mutations that cause Paget's disease of bone.Semantic proximity Read ↗

Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone.Semantic proximity Read ↗

Impact of p62/SQSTM1 UBA domain mutations linked to Paget's disease of bone on ubiquitin recognition.Semantic proximity Read ↗

p62 mutations, ubiquitin recognition and Paget's disease of bone.Semantic proximity Read ↗

A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in miceSemantic proximity Read ↗

Sequestosome 1 mutations in Paget's disease of bone in Australia: prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding.Semantic proximity Read ↗

Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.Semantic proximity Read ↗

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