Article

Phosphatidylinositol Cycle Disruption is Central to Atypical Hemolytic-Uremic Syndrome Caused by Diacylglycerol Kinase Epsilon Deficiency

2019-05-27

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Loss-of-function mutations in diacylglycerol kinase epsilon ( DGKE ) cause a rare form of atypical hemolytic-uremic syndrome (aHUS) for which there is no treatment besides kidney transplantation. Highly expressed in kidney endothelial cells, DGKE is a lipid kinase that phosphorylates diacylglycerol (DAG) to phosphatic acid (PA). Specifically, DGKE’s preferred substrate is 3...

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Literature Corpus work: 3d4d2693-1e50-568b-a361-2c06fa7e023a
DOI: 10.1101/633867

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