Article
Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.
Nature genetics - 1 Dec 2007
Péterfy Miklós, Ben-Zeev Osnat, Mao Hui Z, Weissglas-Volkov Daphna, Aouizerat Bradley E, Pullinger Clive R, Frost Philip H, Kane John P, Malloy Mary J, Reue Karen, Pajukanta Päivi, Doolittle Mark H
Abstract excerpt
Hypertriglyceridemia is a hallmark of many disorders, including metabolic syndrome, diabetes, atherosclerosis and obesity. A well-known cause is the deficiency of lipoprotein lipase (LPL), a key enzyme in plasma triglyceride hydrolysis. Mice carrying the combined lipase deficiency (cld) mutation show severe hypertriglyceridemia owing to a decrease in the activity of LPL and a related enzyme, hepatic lipase (HL),...
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