Article
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.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jul 2009
Rea Sarah L, Walsh John P, Ward Lynley, Magno Aaron L, Ward Bryan K, Shaw Barry, Layfield Robert, Kent G Neil, Xu Jiake, Ratajczak Thomas
Abstract excerpt
Previously reported Sequestosome 1(SQSTM1)/p62 gene mutations associated with Paget's disease of bone (PDB) cluster in, or cause deletion of, the ubiquitin-associated (UBA) domain. The aims of this study were to examine the prevalence of SQSTM1 mutations in Australian patients, genotype/phenotype correlations and the functional consequences of a novel point mutation (P364S) located upstream of the UBA. Mutation...
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