BiochemistrybioRxivPreprint
Phosphatidylinositol Cycle Disruption is Central to Atypical Hemolytic-Uremic Syndrome Caused by Diacylglycerol Kinase Epsilon Deficiency
Vincent So, Jing Wu, Alexis Traynor-Kaplan…·Mathieu Lemaire
This study investigates DGKE deficiency in aHUS using lipidomic analysis and finds reduced PtdIns(4,5)P2, not increased DAG, is critical to the disease's pro-thrombotic phenotype.
DOI 10.1101/633867