Associated Papers
Atypical Frontotemporal Dementia Associated With SQSTM1 Gene Mutation: A Clinicopathological Case.
Espinoza-Vinces C et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Development of Paget's disease of bone in adults inheriting SQSTM1 mutations: a long-term follow-up.
O'Sullivan S et al.
Jbmr Plus, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Pattern of SQSTM1 Gene Variants in a Hungarian Cohort of Paget's Disease of Bone.
Donáth J et al.
Calcified Tissue International, 2021
Molecular insights into an ancient form of Paget's disease of bone.
Shaw B et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Identification of a Novel Hemizygous SQSTM1 Nonsense Mutation in Atypical Behavioral Variant Frontotemporal Dementia.
Sun L et al.
Frontiers in Aging Neuroscience, 2018
Clinical and Genetic Advances in Paget's Disease of Bone: a Review.
Alonso N et al.
Clinical Reviews in Bone and Mineral Metabolism, 2017
ALS-FTLD associated mutations of SQSTM1 impact on Keap1-Nrf2 signalling.
Goode A et al.
Molecular and Cellular Neurosciences, 2016
Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia.
Kovacs GG et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2016
Evolution of Paget's disease of bone in adults inheriting SQSTM1 mutations.
Cundy T et al.
Clinical Endocrinology, 2015
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
van der Zee J et al.
Acta Neuropathologica, 2014
Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function.
Goode A et al.
Biochimica Et Biophysica Acta, 2014
Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.
Kwok CT et al.
European Journal of Human Genetics : Ejhg, 2014
Abstracts of the IX Congresso Sindem: Italian Association for the study of Dementia linked to the Italian Neurological Society (SIN), March 13-15, 2014, Florence, Italy.
Bonavita V et al.
Journal of Alzheimer's Disease : Jad, 2014
New insights into the role of sequestosome 1/p62 mutant proteins in the pathogenesis of Paget's disease of bone.
Rea SL et al.
Endocrine Reviews, 2013
Disease-relevant proteostasis regulation of cystic fibrosis transmembrane conductance regulator.
Villella VR et al.
Cell Death and Differentiation, 2013
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
Rubino E et al.
Neurology, 2012
Paget's disease of bone: evidence for complex pathogenetic interactions.
Chung PY et al.
Seminars in Arthritis and Rheumatism, 2012
A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease.
Gianfrancesco F et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012
Familial Paget disease and SQSTM1 mutations in New Zealand.
Cundy T et al.
Calcified Tissue International, 2011
Genetic aspects of the Paget's disease of bone: concerns on the introduction of DNA-based tests in the clinical practice. Advantages and disadvantages of its application.
Falchetti A et al.
European Journal of Clinical Investigation, 2010
SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone.
Gennari L et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2010
Characterization of a non-UBA domain missense mutation of sequestosome 1 (SQSTM1) in Paget's disease of bone.
Najat D et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2009
Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone.
Falchetti A et al.
Calcified Tissue International, 2009
Delayed development of Paget's disease in offspring inheriting SQSTM1 mutations.
Bolland MJ et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2007
Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.
Collet C et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2007
Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone.
Morissette J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006
Clinical and cellular phenotypes associated with sequestosome 1 (SQSTM1) mutations.
Leach RJ et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006
p62 mutations, ubiquitin recognition and Paget's disease of bone.
Layfield R et al.
Biochemical Society Transactions, 2006
p62 ubiquitin binding-associated domain mediated the receptor activator of nuclear factor-kappaB ligand-induced osteoclast formation: a new insight into the pathogenesis of Paget's disease of bone.
Yip KH et al.
The American Journal of Pathology, 2006
A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-kappaB signaling and Paget's disease of bone with a severe phenotype.
Rea SL et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006
Loss of ubiquitin binding is a unifying mechanism by which mutations of SQSTM1 cause Paget's disease of bone.
Cavey JR et al.
Calcified Tissue International, 2006
Mechanisms of disease: genetics of Paget's disease of bone and related disorders.
Daroszewska A et al.
Nature Clinical Practice. Rheumatology, 2006
Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations.
Cavey JR et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005
Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent.
Lucas GJ et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005
SQSTM1 and Paget's disease of bone.
Layfield R et al.
Calcified Tissue International, 2004
Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone.
Layfield R et al.
Biochemical Society Transactions, 2004
Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease.
Beyens G et al.
Calcified Tissue International, 2004
Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.
Hocking LJ et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2004
Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees.
Good DA et al.
Bone, 2004
Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.
Johnson-Pais TL et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2003
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.
Hocking LJ et al.
Human Molecular Genetics, 2002
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Kerr M et al.
Molecular Genetics and Metabolism, 0