Article
A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies.
Epigenetics - 1 Jan 2015
Agrelo Ruben, Sutz Miguel Arocena, Setien Fernando, Aldunate Fabian, Esteller Manel, Da Costa Valeria, Achenbach Ricardo
Abstract excerpt
Werner Syndrome (WS) is a rare inherited disease characterized by premature aging and increased propensity for cancer. Mutations in the WRN gene can be of several types, including nonsense mutations, leading to a truncated protein form. WRN is a RecQ family member with both helicase and exonuclease activities, and it participates in several cell metabolic pathways, including DNA replication, DNA repair, and...
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