Article
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.
The Journal of clinical investigation - 1 Apr 1994
Kamijo T, Wanders R J, Saudubray J M, Aoyama T, Komiyama A, Hashimoto T
Abstract excerpt
We examined the enzyme protein and biosynthesis of human trifunctional protein harboring enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activity in cultured skin fibroblasts from two patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. The follow...
Topics
- 3-Hydroxyacyl CoA Dehydrogenases
- Acetyl-CoA C-Acyltransferase
- Cells, Cultured
- Enoyl-CoA Hydratase
- Fibroblasts
- Humans
- Immunoblotting
- Mitochondria
- Molecular Weight
- Mutation
- Oxidation-Reduction
- Palmitic Acid
- Palmitic Acids