Article
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.
Human molecular genetics - 1 Sept 1995
Goodman S I, Kratz L E, DiGiulio K A, Biery B J, Goodman K E, Isaya G, Frerman F E
Abstract excerpt
We have cloned, sequenced, and expressed cDNAs encoding wild type human glutaryl-CoA dehydrogenase subunit, and have expressed a mutant enzyme found in a patient with glutaric acidemia type I. The mutant protein is expressed at the same level as the wild type in Escherichia coli, but has less tha...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Animals
- Base Sequence
- Cloning, Molecular
- DNA, Complementary
- Escherichia coli
- Glutaryl-CoA Dehydrogenase
- Humans
- Mitochondria
- Molecular Sequence Data
- Mutation