Article
3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice.
Human molecular genetics - 1 Dec 1998
Wang S P, Marth J D, Oligny L L, Vachon M, Robert M F, Ashmarina L, Mitchell G A
Abstract excerpt
3-Hydroxy-3-methylglutaryl-CoA lyase (HL, EC 4.1.3.4) catalyses the last step of ketogenesis from leucine and fatty acids. HL deficiency in humans is one of the many inborn errors of CoA ester metabolism. By gene targeting, we created a strain of HL-deficient mice. Heterozygous HL-deficient mice are clinically normal and fibroblasts from homozygous HL-deficient embryos grow normally despite absence of HL...
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