Associated Papers
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
Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget's Disease of Bone.
Tao X et al.
Frontiers in Endocrinology, 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
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
Clinical and Genetic Advances in Paget's Disease of Bone: a Review.
Alonso N et al.
Clinical Reviews in Bone and Mineral Metabolism, 2017
Thirteen Chinese patients with sporadic Paget's disease of bone: clinical features, SQSTM1 mutation identification, and functional analysis.
Gu JM et al.
Journal of Bone and Mineral Metabolism, 2012
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
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
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
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
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
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