Article
Homozygous carnitine palmitoyltransferase 1b (muscle isoform) deficiency is lethal in the mouse.
Molecular genetics and metabolism - 1 Mar 2008
Ji Shaonin, You Yun, Kerner Janos, Hoppel Charles L, Schoeb Trenton R, Chick Wallace S H, Hamm Doug A, Sharer J Daniel, Wood Philip A
Abstract excerpt
Carnitine palmitoyltransferase-1 (CPT-1) catalyzes the rate-limiting step of mitochondrial beta-oxidation of long chain fatty acids (LCFA), the most abundant fatty acids in mammalian membranes and in energy metabolism. Human deficiency of the muscle isoform CPT-1b is poorly understood. In the current study, embryos with a homozygous knockout of Cpt-1b were lost before embryonic day 9.5-11.5. Also, while there...
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