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  • Title: SQSTM1 and Paget's disease of bone.
    Author: Layfield R, Hocking LJ.
    Journal: Calcif Tissue Int; 2004 Nov; 75(5):347-57. PubMed ID: 15365659.
    Abstract:
    Mutations in the Sequestosome 1 gene ( SQSTM1; also known as p62) have recently been identified as the cause of 5q35-linked Paget's disease of bone (PDB). All of the mutations identified to date affect the ubiquitin-associated (UBA) domain of SQSTM1, a region of the protein that binds noncovalently to ubiquitin. In this review we consider the possible functional significance of the SQSTM1-ubiquitin interaction, and consequences of the SQSTM1 UBA domain mutations. Clarification of the in vivo roles of SQSTM1 in bone-cell function will be central to improving our understanding of the molecular pathogenesis of PDB and related conditions.
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