Article
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Human mutation - 1 Jan 2017
Yokote Koutaro, Chanprasert Sirisak, Lee Lin, Eirich Katharina, Takemoto Minoru, Watanabe Aki, Koizumi Naoko, Lessel Davor, Mori Takayasu, Hisama Fuki M, Ladd Paula D, Angle Brad, Baris Hagit, Cefle Kivanc, Palanduz Sukru, Ozturk Sukru, Chateau Antoinette, Deguchi Kentaro, Easwar T K M, Federico Antonio, Fox Amy, Grebe Theresa A, Hay Beverly, Nampoothiri Sheela, Seiter Karen, Streeten Elizabeth, Piña-Aguilar Raul E, Poke Gemma, Poot Martin, Posmyk Renata, Martin George M, Kubisch Christian, Schindler Detlev, Oshima Junko
Abstract excerpt
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic variants in the WRN gene, which encodes a multifunctional nuclear protein with exonuclease and helicase activities. WRN protein is thought to be involved in optimization of various aspects of DNA metabolism,...
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