| Literature DB >> 15610765 |
Jae Wan Lee1, Jeanine Harrigan, Patricia L Opresko, Vilhelm A Bohr.
Abstract
Mutations in human WRN (also known as RECQ3) gene give rise to a rare autosomal recessive genetic disorder, Werner syndrome (WS). WS is a premature aging disease characterized by predisposition to cancer and early onset of symptoms related to normal aging including osteoporosis, ocular cataracts, graying and loss of hair, diabetes mellitus, arteriosclerosis, and atherosclerosis. This review focuses on the functional role of Werner protein (WRN) in guarding the genetic stability of cells, particularly by playing an integral role in the base excision repair, and at the telomere ends. Furthermore, in-depth biochemical investigations have significantly advanced our understanding of WRN protein regarding its binding partners and the site of protein-protein interaction. The mapping analysis of protein interaction sites in WRN for most of its binding partners have revealed a common site of protein-protein interaction in the RecQ conserved (RQC) region of WRN.Entities:
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Year: 2005 PMID: 15610765 DOI: 10.1016/j.mad.2004.09.011
Source DB: PubMed Journal: Mech Ageing Dev ISSN: 0047-6374 Impact factor: 5.432