J Pharmacol Exp Ther 2019 03 18;368(3):423-434. Epub 2018 Dec 18.
Lipoprotein Metabolism Laboratory, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland (B.L.V., E.B.N., L.A.F., S.M.G., M.L.S., M.P., E.H., A.T.R.) and MedImmune, Gaithersburg, Maryland (M.J.A., S.K.K.).
Familial LCAT deficiency (FLD) is due to mutations in lecithin:cholesterol acyltransferase (LCAT), a plasma enzyme that esterifies cholesterol on lipoproteins. FLD is associated with markedly reduced levels of plasma high-density lipoprotein and cholesteryl ester and the formation of a nephrotoxic lipoprotein called LpX. We used a mouse model in which the LCAT gene is deleted and a truncated version of the SREBP1a gene is expressed in the liver under the control of a protein-rich/carbohydrate-low (PRCL) diet-regulated PEPCK promoter. Read More