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Article

The S349T mutation of SQSTM1 links Keap1/Nrf2 signalling to Paget's disease of bone.

Bone - 1 Feb 2013

Wright Tao, Rea Sarah L, Goode Alice, Bennett Andrew J, Ratajczak Thomas, Long Jed E, Searle Mark S, Goldring Christopher E, Park B Kevin, Copple Ian M, Layfield Robert

Abstract excerpt

Mutations affecting the Sequestosome 1 (SQSTM1) gene commonly occur in patients with the skeletal disorder Paget's disease of bone (PDB), a condition characterised by defective osteoclast differentiation and function. Whilst most mutations cluster within the ubiquitin-associated (UBA) domain of the SQSTM1 protein, and are associated with dysregulated NFκB signalling, several non-UBA domain mutations have also...

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Share to Adaptor Proteins, Signal Transducing
Share to Intracellular Signaling Peptides and Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kelch-Like ECH-Associated Protein 1

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Source

Identifiers

PMID: 23117207
DOI: 10.1016/j.bone.2012.10.023

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.

Related research

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Research trail→

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The S349T mutation of SQSTM1 links Keap1/Nrf2 signalling to Paget's disease of bone.PMID 23117207Read ↗

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 ↗

New insights into the role of sequestosome 1/p62 mutant proteins in the pathogenesis of Paget's disease of bone.Semantic proximity Read ↗

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

ALS-FTLD associated mutations of SQSTM1 impact on Keap1-Nrf2 signallingSemantic proximity Read ↗

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

Genetic determinants of Paget's disease of bone.Semantic proximity Read ↗

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

Recent advances in understanding the molecular basis of Paget disease of bone.Semantic proximity Read ↗

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

Attenuated clinical and osteoclastic phenotypes of Paget's disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 gene.Semantic proximity Read ↗

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

Latest developments in Paget's disease of bone.Semantic proximity Read ↗

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