Article
Premature translation termination of the pre-E1 alpha subunit of the branched chain alpha-ketoacid dehydrogenase as a cause of maple syrup urine disease in Polled Hereford calves.
The Journal of biological chemistry - 15 Feb 1990
Zhang B, Healy P J, Zhao Y, Crabb D W, Harris R A
Abstract excerpt
Maple syrup urine disease in man and cattle is an inborn metabolic error caused by the deficiency of the branched chain alpha-ketoacid dehydrogenase. We have studied the molecular basis of the disease in Polled Hereford calves. The E1 component of branched chain alpha-ketoacid dehydrogenase was v...
Topics
- 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
- Alleles
- Animals
- Base Sequence
- Blotting, Southern
- Blotting, Western
- Cattle
- Cattle Diseases
- Cell Line
- Cloning, Molecular
- Enzyme Precursors
- Fibroblasts
- Ketone Oxidoreductases
- Maple Syrup Urine Disease