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

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 virt...

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Veröffentlicht in:	The Journal of biological chemistry 1990-02, Vol.265 (5), p.2425-2427
Hauptverfasser:	Zhang, B. (Indiana University School of Medicine, Indianaplis, IN), Healy, P.J, Zhao, Y, Crabb, D.W, Harris, R.A
Format:	Artikel
Sprache:	eng
Schlagworte:	3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) Alleles Analytical, structural and metabolic biochemistry Animals ARN Base Sequence Biological and medical sciences Blotting, Southern Blotting, Western BREEDS CALVES Cattle Cattle Diseases - enzymology Cattle Diseases - genetics Cell Line Cloning, Molecular Enzyme Precursors - genetics Enzymes and enzyme inhibitors Fibroblasts - enzymology Fundamental and applied biological sciences. Psychology Ketone Oxidoreductases - genetics Maple Syrup Urine Disease - enzymology Maple Syrup Urine Disease - genetics Maple Syrup Urine Disease - veterinary METABOLIC DISORDERS Molecular Sequence Data Multienzyme Complexes - genetics Mutation Nucleic Acid Hybridization Oligonucleotide Probes OXIDOREDUCTASES OXIDORREDUCTASAS OXYDOREDUCTASE Peptide Chain Termination, Translational Polymerase Chain Reaction RACE RAZAS RNA Skin - enzymology TERNERO TRASTORNOS METABOLICOS TROUBLE DU METABOLISME VEAU
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