Associated Papers
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
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
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
Clinical and Genetic Advances in Paget's Disease of Bone: a Review.
Alonso N et al.
Clinical Reviews in Bone and Mineral Metabolism, 2017
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
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
Paget's disease of bone: evidence for complex pathogenetic interactions.
Chung PY et al.
Seminars in Arthritis and Rheumatism, 2012
Impact of p62/SQSTM1 UBA domain mutations linked to Paget's disease of bone on ubiquitin recognition.
Garner TP et al.
Biochemistry, 2011
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
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
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
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
Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations.
Eekhoff EW et al.
Arthritis and Rheumatism, 2004
[Paget's disease of bone: diagnosis and treatment].
Winter EM et al.
Nederlands Tijdschrift Voor Geneeskunde, 0