WRN mutations in Werner syndrome.
Werner syndrome (WS) is one of a group of human genetic diseases that have recently been linked to deficits in cellular helicase function. We review the spectrum of WS-associated WRN mutations, the organization and potential functions of the WRN protein, and potential mechanistic links between the loss of WRN function and pathogenesis of the WS clinical and cellular phenotypes.
Moser
M J
MJ
Department of Pathology, University of Washington, Seattle 98195-7705, USA.
Oshima
J
J
Monnat
R J
RJ
D000818:Animals; D002898:Chromosomes, Human, Pair 8; D004265:DNA Helicases / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D004195:Disease Models, Animal; D005090:Exodeoxyribonucleases; D006801:Humans; D051379:Mice; D008957:Models, Genetic; D009154:Mutation; D019913:Nuclear Localization Signals; D011110:Polymorphism, Genetic; D011499:Protein Processing, Post-Translational; D053484:RecQ Helicases; D014898:Werner Syndrome / Q000175:diagnosis / Q000235:genetics*; D000071657:Werner Syndrome Helicase
D019913:Nuclear Localization Signals; D005090:Exodeoxyribonucleases; D004265:DNA Helicases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase