Novel UBA Domain Mutations of SQSTM1 in Paget's Disease of Bone: Genotype Phenotype Correlation, Functional Analysis, and Structural Consequences

Lynne Hocking, Gavin Lucas, Anna Daroszewska, T. Cundy, G. C. Nicholson, J. Donath, J. P. Walsh, C. Finlayson, J. R. Cavey, B. Ciani, P. W. Sheppard, MS. Searle, R. Layfield, S Ralston

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Abstract

Three novel missense mutations of SQSTM1 were identified in familial PDB, all affecting the UBA domain. Functional and structural analysis showed that disease severity was related to the type of mutation but was unrelated to the polyubiquitin-binding properties of the mutant UBA domain peptides.

Original languageEnglish
Pages (from-to)1122-1127
Number of pages5
JournalJournal of Bone and Mineral Research
Volume19
Issue number7
DOIs
Publication statusPublished - Jul 2004

Keywords

  • Paget's disease of bone
  • SQSTM1
  • ubiquitin
  • p62
  • chromosome 18Q
  • genetic-heterogeneity
  • measles-virus
  • linkage
  • LOCI
  • pro
  • con

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