Associated Papers
Molecular mechanisms underlying p62-dependent secretion of the Alzheimer-associated ubiquitin variant UBB+1.
Wagh AR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
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
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Cogan G et al.
Brain : a Journal of Neurology, 2025
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Defining the landscape of TIA1 and SQSTM1 digenic myopathy.
Panos-Basterra P et al.
Neuromuscular Disorders : Nmd, 2024
Structure and function of p62/SQSTM1 in the emerging framework of phase separation.
Berkamp S et al.
The Febs Journal, 2021
Molecular modelling and dynamic simulations of sequestosome 1 (SQSTM1) missense mutations linked to Paget disease of bone.
Shaik NA et al.
Journal of Biomolecular Structure & Dynamics, 2021
The high stability of the three-helix bundle UBA domain of p62 protein as revealed by molecular dynamics simulations.
Teixeira AL et al.
Journal of Molecular Modeling, 2021
Exploring Neuronal Vulnerability to Head Trauma Using a Whole Exome Approach.
Ibrahim O et al.
Journal of Neurotrauma, 2020
Genetic architecture of common non-Alzheimer's disease dementias.
Guerreiro R et al.
Neurobiology of Disease, 2020
Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort.
Cronin O et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.
Orme T et al.
Acta Neuropathologica Communications, 2020
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
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.
Lee Y et al.
The Journal of Clinical Investigation, 2018
Keap1/Cullin3 Modulates p62/SQSTM1 Activity via UBA Domain Ubiquitination.
Lee Y et al.
Cell Reports, 2017
Clinical and Genetic Advances in Paget's Disease of Bone: a Review.
Alonso N et al.
Clinical Reviews in Bone and Mineral Metabolism, 2017
Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study.
Cuyvers E et al.
Neurobiology of Aging, 2015
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
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
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
Fecto F et al.
Archives of Neurology, 2011
Familial Paget disease and SQSTM1 mutations in New Zealand.
Cundy T et al.
Calcified Tissue International, 2011
Impact of p62/SQSTM1 UBA domain mutations linked to Paget's disease of bone on ubiquitin recognition.
Garner TP et al.
Biochemistry, 2011
Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone.
Visconti MR et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2010
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
Mutant p62/SQSTM1 UBA domains linked to Paget's disease of bone differ in their abilities to function as stabilization signals.
Heinen C et al.
Febs Letters, 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
Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone.
Chung PY et al.
Calcified Tissue International, 2008
Disruption of ubiquitin-mediated processes in diseases of the brain and bone.
Layfield R et al.
Biochemical Society Transactions, 2008
Ubiquitin recognition by the ubiquitin-associated domain of p62 involves a novel conformational switch.
Long J et al.
The Journal of Biological Chemistry, 2008
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
Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease.
Kurihara N et al.
The Journal of Clinical Investigation, 2007
Paget's disease of bone in Italy.
Gennari L et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006
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
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
Etiologic factors in Paget's disease of bone.
Reddy SV
Cellular and Molecular Life Sciences : Cmls, 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
Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.
Falchetti A et al.
Arthritis Research & Therapy, 2005