Article
EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence.
eLife - 3 Aug 2021
Gautheron Jeremie, Morisseau Christophe, Chung Wendy K, Zammouri Jamila, Auclair Martine, Baujat Genevieve, Capel Emilie, Moulin Celia, Wang Yuxin, Yang Jun, Hammock Bruce D, Cerame Barbara, Phan Franck, Fève Bruno, Vigouroux Corinne, Andreelli Fabrizio, Jeru Isabelle
Abstract excerpt
Epoxide hydrolases (EHs) regulate cellular homeostasis through hydrolysis of epoxides to less-reactive diols. The first discovered EH was EPHX1, also known as mEH. EH functions remain partly unknown, and no pathogenic variants have been reported in humans. We identified two de novo variants located in EPHX1 catalytic site in patients with a lipoatrophic diabetes characterized by loss of adipose tissue, insulin...
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