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Calcif Tissue Int. 2004 Nov;75(5):347-57. Epub 2004 Sep 16.

SQSTM1 and Paget's disease of bone.

Author information

1
School of Biomedical Sciences, University of Nottingham Medical School, Queen's Medical Centre, Nottingham NG7 2UH, UK. robert.layfield@nottingham.ac.uk

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.

PMID:
15365659
DOI:
10.1007/s00223-004-0041-0
[Indexed for MEDLINE]

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