Associated Papers
Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.
Tamargo-Gómez I et al.
International Journal of Molecular Sciences, 2020
Targeted sequencing of DCSTAMP in familial Paget's disease of bone.
Sultana MA et al.
Bone Reports, 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
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
Involvement of kinase PKC-zeta in the p62/p62(P392L)-driven activation of NF-κB in human osteoclasts.
Chamoux E et al.
Biochimica Et Biophysica Acta, 2013
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
Mutant p62P392L stimulation of osteoclast differentiation in Paget's disease of bone.
Sundaram K et al.
Endocrinology, 2011
Impact of p62/SQSTM1 UBA domain mutations linked to Paget's disease of bone on ubiquitin recognition.
Garner TP et al.
Biochemistry, 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
The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts.
Chamoux E et al.
Molecular Endocrinology (baltimore, Md.), 2009
Sequestosome 1 mutations in Paget's disease of bone in Australia: prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding.
Rea SL et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2009
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
Absence of somatic SQSTM1 mutations in Paget's disease of bone.
Matthews BG et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Mutations within the TNF-like core domain of RANKL impair osteoclast differentiation and activation.
Cheng T et al.
Molecular Endocrinology (baltimore, Md.), 2009
Ubiquitin-mediated signalling and Paget's disease of bone.
Layfield R et al.
Bmc Biochemistry, 2007
Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels.
Whyte MP 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
Identification and molecular characterization of a novel splice-site mutation (G1205C) in the SQSTM1 gene causing Paget's disease of bone in an extended American family.
Beyens G et al.
Calcified Tissue International, 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