Article
The enzymatic activities of the Werner syndrome protein are disabled by the amino acid polymorphism R834C.
The Journal of biological chemistry - 31 Dec 2004
Kamath-Loeb Ashwini S, Welcsh Piri, Waite Maureen, Adman Elinor T, Loeb Lawrence A
Abstract excerpt
The Werner syndrome protein, WRN, is a member of the RecQ family of DNA helicases. It possesses both 3'-->5' DNA helicase and 3'-->5' DNA exonuclease activities. Mutations in WRN are causally associated with a rare, recessive disorder, Werner syndrome (WS), distinguished by premature aging and genomic instability; all are reported to result in loss of protein expression. In addition to WS-linked mutations, single...
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