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

2021-05-07

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 remains 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 re...

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Literature Corpus work
faba923c-b3b3-55ed-8f1a-1d1df64d8842
DOI
10.1101/2021.05.05.21256010
Open publication

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<i>EPHX1</i> mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescenceDOI 10.1101/2021.05.05.21256010
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