Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.

Eitemau Tebyg

• Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.
  gan: Yamaguchi, S, et al.
  Cyhoeddwyd: (1988)
• Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.
  gan: Fukao, T, et al.
  Cyhoeddwyd: (1992)
• Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency.
  gan: Fukao, T, et al.
  Cyhoeddwyd: (1994)
• Cloning of a cDNA encoding cytosolic acetoacetyl-coenzyme A thiolase from radish by functional expression in Saccharomyces cerevisiae.
  gan: Vollack, K U, et al.
  Cyhoeddwyd: (1996)
• Unprecedented acetoacetyl-coenzyme A synthesizing enzyme of the thiolase superfamily involved in the mevalonate pathway
  gan: Okamura, Eiji, et al.
  Cyhoeddwyd: (2010)