Genetic & Genomic MedicineeLifePeer-reviewed
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…·Isabelle Jéru
The paper identifies EPHX1 mutations causing lipoatrophic diabetes through impaired epoxide hydrolysis and increased cellular senescence, with metreleptin therapy showing benefit.
29 citations