EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence
Jérémie Gautheron, Christophe H.P. Morisseau, Wendy K. Chung, Jamila Zammouri, Martine Auclair, Geneviève Baujat, Émilie Capel, Célia Moulin, Yuxin Wang, Jun Yang, Bruce D. Hammock, Barbara I. Cerame, Franck Phan, Bruno Fève, Corinne Vigouroux, , Isabelle Jéru
The paper identifies EPHX1 mutations causing lipoatrophic diabetes through impaired epoxide hydrolysis and increased cellular senescence, with metreleptin therapy showing benefit.
eLife · Aug 3, 2021Peer-reviewedGenetic & Genomic Medicine