Phosphatidylinositol Cycle Disruption is Central to Atypical Hemolytic-Uremic Syndrome Caused by Diacylglycerol Kinase Epsilon Deficiency
V. So, J. Wu, A. Traynor-Kaplan, C. Choy, R. Epand, R. Botelho, M. 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.
bioRxiv · May 27, 2019 · PreprintBiochemistry