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

L.J. Hocking, G.J.A. Lucas, A. Daroszewska, T. Cundy, G.C. Nicholson, J. Donath, John Walsh, C. Finlayson, J.R. Cavey, B. Ciani, P.W. Sheppard, M.S. Searle, R. Layfield, S.H. Ralston

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    127 Citations (Scopus)


    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
    JournalJournal of Bone and Mineral Research
    Issue number7
    Publication statusPublished - 2004


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