Article
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.
Biochimica et biophysica acta - 8 Dec 1994
IJlst L, Wanders R J, Ushikubo S, Kamijo T, Hashimoto T
Abstract excerpt
Mitochondrial trifunctional protein is a newly identified enzyme involved in mitochondrial fatty acid beta-oxidation harbouring long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase and long-chain 3-ketothiolase activity. Over the last few years, we identified more than 26 patients with a deficiency in long-chain 3-hydroxyacyl-CoA dehydrogenase. In order to identify the molecular basis for...
Topics
- 3-Hydroxyacyl CoA Dehydrogenases
- Amino Acid Sequence
- Base Sequence
- DNA, Complementary
- Fatty Acids
- Humans
- Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase
- Mitochondria
- Molecular Sequence Data
- Mutation