EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence

EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence

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...

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Bibliographic Details
Main Authors: Jeremie Gautheron, Christophe Morisseau, Wendy K Chung, Jamila Zammouri, Martine Auclair, Genevieve Baujat, Emilie Capel, Celia Moulin, Yuxin Wang, Jun Yang, Bruce D Hammock, Barbara Cerame, Franck Phan, Bruno Fève, Corinne Vigouroux, Fabrizio Andreelli, Isabelle Jeru
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2021-08-01
Series:eLife
Subjects:
diabetes
genetics
epoxide hydrolase
adipocyte
cellular senescence
EPHX1
Online Access:https://elifesciences.org/articles/68445

Internet

https://elifesciences.org/articles/68445

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