Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Apr 2009

Najat Dereen, Garner Thomas, Hagen Thilo, Shaw Barry, Sheppard Paul W, Falchetti Alberto, Marini Francesca, Brandi Maria L, Long Jed E, Cavey James R, Searle Mark S, Layfield Robert

Abstract excerpt

Mutations affecting the ubiquitin-associated (UBA) domain of sequestosome 1 (SQSTM1/p62) are commonly found in Paget's disease of bone (PDB) and impair SQSTM1's ability to bind ubiquitin, resulting in dysregulated NF-kappaB signaling. In contrast, non-UBA domain mutations are rarer, and little is known about how they manifest their effects. We present the first characterization at the molecular, cellular, and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing
Share to Magnetic Resonance Spectroscopy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutant Proteins

Share to Mutation, Missense

Share to NF-kappa B

Share to Osteitis Deformans

Share to Sequestosome-1 Protein

Share to Ubiquitin

Source

Identifiers

PMID: 19049332
DOI: 10.1359/jbmr.081204

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of a non-UBA domain missense mutation of sequestosome 1 (SQSTM1) in Paget's disease of bone.PMID 19049332Read ↗

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 ↗

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

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

Three novel mutations in SQSTM1 identified in familial 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 ↗

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

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

The S349T mutation of SQSTM1 links Keap1/Nrf2 signalling to 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 ↗

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

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

⌁Select a neighboring publication to make it the new centre.