Further analysis of mutant thiolase protein in fibroblasts from a Japanese boy with 3-ketothiolase deficiency.

Abstract excerpt

We examined the mutant protein of mitochondrial acetoacetyl-CoA thiolase (mutant T2) in fibroblasts from a Japanese boy with 3-ketothiolase deficiency. The molecular size of the mutant T2 protein, determined by pulse labeling and SDS/PAGE, was intermediate between the mature subunit and the precursor of T2. To characterize the mutant T2 protein, pulse-labeling and rhodamine 6G inhibition of mitochondrial...

Topics

• Acetyl-CoA C-Acetyltransferase
• Acetyl-CoA C-Acyltransferase
• Child
• Enzyme Precursors
• Female
• Fibroblasts
• Genes, Recessive
• Heterozygote
• Homozygote
• Humans
• Male