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.

@article{Rea2009Sequestosome1M,
  title={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.},
  author={Sarah L. Rea and J. P. Walsh and Lynley Ward and Aaron Len Magno and Bryan K Ward and Barry Shaw and Robert Layfield and Georgina Kent and Jiake Xu and Thomas Ratajczak},
  journal={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
  year={2009},
  volume={24 7},
  pages={1216-23}
}
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 screening of the SQSTM1 gene was conducted on 49 kindreds with PDB. In addition, 194… CONTINUE READING

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