1997
DOI: 10.1038/ng0997-100
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The Werner syndrome protein is a DNA helicase

Abstract: Werner syndrome (WS) is an uncommon autosomal recessive disorder characterized by premature aging. The clinical manifestations of WS, including atherosclerosis and osteoporosis, appear early in adulthood, and death in the fourth to sixth decade commonly ensues from myocardial infarction or cancer. In accord with the aging phenotype, cells from WS patients have a reduced replicative life span in culture. Genomic instability is observed at the cytogenetic level in the form of chromosome breaks and translocations… Show more

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Cited by 568 publications
(405 citation statements)
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“…1A). The missense mutations used had been previously shown to inactivate the WRN helicase or exonuclease activity [16,17]. A myc epitope tag was added in-frame to the N-terminus of all of the WRN proteins to allow unambiguous detection of transgene-encoded proteins in the presence of native WRN (Fig.…”
Section: Resultsmentioning
confidence: 99%
“…1A). The missense mutations used had been previously shown to inactivate the WRN helicase or exonuclease activity [16,17]. A myc epitope tag was added in-frame to the N-terminus of all of the WRN proteins to allow unambiguous detection of transgene-encoded proteins in the presence of native WRN (Fig.…”
Section: Resultsmentioning
confidence: 99%
“…However the penetrance of such polymorphisms is weak and the clinical relevance of these to the overall cancer burden was unclear 30 . Subsequently several complex conditions in which cancer predisposition is a feature, such as Bloom's and Werner's syndromes, and Fanconi anaemia, have been shown to arise from genetic defects in DNA repair systems, as have subsets of familial breast, ovarian, prostate and pancreatic cancers [31][32][33][34][35][36] .…”
Section: Insight From Dna Repair Disordersmentioning
confidence: 99%
“…TRF2 also interacts with the DNA damage sensing protein ATM, and is thought to inhibit ATM activity specifically at telomeres [81], and WRN [82], the protein that is defective in the human premature aging and cancer-prone disorder Werner syndrome [83,84]. WRN encodes a DNA helicase and exonuclease [85,86] that appears to participate in both the NHEJ and HR DNA repair pathways [87][88][89][90][91][92][93][94]. It is not known whether all TRF1 complexes contain TANK1/2 and/or Ku, or whether all TRF2 complexes contain ATM, WRN, the RMN complex and/or other DNA damage sensors or repair proteins (Fig.…”
Section: Telomere-associated Proteins With Non-telomeric Functionsmentioning
confidence: 99%