Associated Papers
Inborn errors of canonical autophagy in neurodegenerative diseases.
Freisem D et al.
Human Molecular Genetics, 2025
The role of autophagy in the pathogenesis and treatment of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Beckers J et al.
Autophagy Reports, 2025
Urolithin A promotes p62-dependent lysophagy to prevent acute retinal neurodegeneration.
Jiménez-Loygorri JI et al.
Molecular Neurodegeneration, 2024
The selective autophagy adaptor p62/SQSTM1 forms phase condensates regulated by HSP27 that facilitate the clearance of damaged lysosomes via lysophagy.
Gallagher ER et al.
Cell Reports, 2023
Proteostasis impairment and ALS.
Lambert-Smith IA et al.
Progress in Biophysics and Molecular Biology, 2022
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 role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.
Foster AD et al.
Neural Regeneration Research, 2020
p62/SQSTM1, a Central but Unexploited Target: Advances in Its Physiological/Pathogenic Functions and Small Molecular Modulators.
Chen Y et al.
Journal of Medicinal Chemistry, 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
Cytoplasmic DAXX drives SQSTM1/p62 phase condensation to activate Nrf2-mediated stress response.
Yang Y et al.
Nature Communications, 2019
Targeted sequencing of DCSTAMP in familial Paget's disease of bone.
Sultana MA et al.
Bone Reports, 2019
RNA binding proteins and the pathological cascade in ALS/FTD neurodegeneration.
Ito D et al.
Science Translational Medicine, 2017
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
IRS-1 Functions as a Molecular Scaffold to Coordinate IGF-I/IGFBP-2 Signaling During Osteoblast Differentiation.
Xi G et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
Selective autophagic receptor p62 regulates the abundance of transcriptional coregulator ARIP4 during nutrient starvation.
Tsuchiya M et al.
Scientific Reports, 2015
Alternative splicing in osteoclasts and Paget's disease of bone.
Klinck R et al.
Bmc Medical Genetics, 2014
SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.
Rea SL et al.
Experimental Cell Research, 2014
Pathobiology of Paget's Disease of Bone.
Galson DL et al.
Journal of Bone Metabolism, 2014
TBK1 mediates critical effects of measles virus nucleocapsid protein (MVNP) on pagetic osteoclast formation.
Sun Q et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.
Teyssou E et al.
Acta Neuropathologica, 2013
Epidemiogenetic study of French families with Paget's disease of bone.
Michou L et al.
Joint Bone Spine, 2012
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Estrada K et al.
Nature Genetics, 2012
Mutant p62P392L stimulation of osteoclast differentiation in Paget's disease of bone.
Sundaram K et al.
Endocrinology, 2011
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
Fecto F et al.
Archives of Neurology, 2011
Impact of p62/SQSTM1 UBA domain mutations linked to Paget's disease of bone on ubiquitin recognition.
Garner TP et al.
Biochemistry, 2011
Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population.
Michou L et al.
Bone, 2011
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
Insights into the pathogenesis of Paget's disease.
Roodman GD
Annals of the New York Academy of Sciences, 2010
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
A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment.
Hiruma Y et al.
Human Molecular Genetics, 2008
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
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
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
Mechanisms of disease: genetics of Paget's disease of bone and related disorders.
Daroszewska A et al.
Nature Clinical Practice. Rheumatology, 2006
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