Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases.
Progeroid syndromes have been the focus of intense research in part because they might provide a window into the pathology of normal ageing. Werner syndrome and Hutchinson-Gilford progeria syndrome are two of the best characterized human progeroid diseases. Mutated genes that are associated with these syndromes have been identified, mouse models of disease have been developed, and molecular studies have implicated decreased cell proliferation and altered DNA-damage responses as common causal mechanisms in the pathogenesis of both diseases.
Kudlow
Brian A
BA
Department of Biochemistry, University of Washington, Seattle, WA 98195, USA.
Kennedy
Brian K
BK
Monnat
Raymond J
RJ
D000375:Aging / Q000235:genetics / Q000502:physiology; D000818:Animals; D004249:DNA Damage / Q000502:physiology; D004195:Disease Models, Animal; D005090:Exodeoxyribonucleases; D006801:Humans; D034904:Lamin Type A / Q000378:metabolism / Q000502:physiology; D008954:Models, Biological; D010641:Phenotype; D011371:Progeria / Q000235:genetics* / Q000628:therapy; D011499:Protein Processing, Post-Translational; D053484:RecQ Helicases / Q000502:physiology; D014898:Werner Syndrome / Q000235:genetics* / Q000628:therapy; D000071657:Werner Syndrome Helicase
D034904:Lamin Type A; D005090:Exodeoxyribonucleases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase