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.

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 virtually undetectable by Western blot analysis of fibroblasts from an affected calf. Northern blot analysis failed to...

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