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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2021
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8331186/
https://www.ncbi.nlm.nih.gov/pubmed/34342583
http://dx.doi.org/10.7554/eLife.68445

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