ArticleDNA repair2013
Functional deficit associated with a missense Werner syndrome mutation.
Article in DNA repair, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.Scientific reports · 2017Trial
- Deficiency of Werner RecQ-type DNA helicase causes premature malnutrition in zebrafish.iScience · 2026Article
- Novel Homozygous Variants in CIDEC and WRN in a Young Female with Lipodystrophy and Thyroid Cancer.International journal of molecular sciences · 2026Article
- RecQ dysfunction contributes to social and depressive-like behavior and affects aldolase activity in mice.Neurobiology of disease · 2023Article
- Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.Journal of medical genetics · 2022Article
- BiallelicMolecular syndromology · 2018Article
- WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.Human mutation · 2017Review
- Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions.Ageing research reviews · 2017Review
- Differential and Concordant Roles for Poly(ADP-Ribose) Polymerase 1 and Poly(ADP-Ribose) in Regulating WRN and RECQL5 Activities.Molecular and cellular biology · 2015Article
- A missense single nucleotide polymorphism, V114I of the Werner syndrome gene, is associated with risk of osteoporosis and femoral fracture in the Japanese population.Journal of bone and mineral metabolism · 2015Article
- Candidate biomarkers for cervical cancer treatment: Potential for clinical practice (Review).Molecular and clinical oncology · 2014Article
- Oxidative stress and antioxidant response in fibroblasts from Werner and atypical Werner syndromes.Aging · 2014Article
- Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.Gerontology · 2014Review
- Catalytic activities of Werner protein are affected by adduction with 4-hydroxy-2-nonenal.Nucleic acids research · 2014Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Werner syndrome (WS) is a rare autosomal recessive disorder caused by mutations in the WRN gene. WRN helicase, a member of the RecQ helicase family, is involved in various DNA metabolic pathways including DNA replication, recombination, DNA repair and telomere maintenance. In this study, we have characterized the G574R missense mutation, which was recently identified in a WS patient. Our biochemical experiments with purified mutant recombinant WRN protein showed that the G574R mutation inhibits ATP binding, and thereby leads to significant decrease in helicase activity. Exonuclease activity of the mutant protein was not significantly affected, whereas its single strand DNA annealing activity was higher than that of wild type. Deficiency in the helicase activity of the mutant may cause defects in replication and other DNA metabolic processes, which in turn could be responsible for the Werner syndrome phenotype in the patient. In contrast to the usual appearance of WS, the G574R patient has normal stature. Thus the short stature normally associated with WS may not be due to helicase deficiency.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.