Article
Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency.
Progress in nucleic acid research and molecular biology - 1 Jan 1998
Bross P, Andresen B S, Gregersen N
Abstract excerpt
Rapid progress in DNA technology has entailed the possibility of readily detecting mutations in disease genes. In contrast to this, techniques to characterize the effects of mutations are still very time consuming. It has turned out that many of the mutations detected in disease genes are missens...
Topics
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenases
- Animals
- Fatty Acids
- Humans
- Metabolism, Inborn Errors
- Mitochondria
- Models, Biological
- Models, Molecular
- Molecular Chaperones
- Mutation
- Protein Conformation
- Protein Folding