(Q28301367)

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Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene

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Europe PubMed Central

Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene (English)

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beta-ketothiolase deficiency

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author name string

T Fukao

1

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S Yamaguchi

2

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T Orii

3

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T Hashimoto

4

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language of work or name

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publication date

1995

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5

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2

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113-20

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Cloning and sequence analysis of a full length cDNA encoding human mitochondrial 3-oxoacyl-CoA thiolase

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The oxoacyl-coenzyme A thiolases of animal tissues

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A suggested nomenclature for designating mutations.

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Biochemical investigations on a patient with a defect in cytosolic acetoacetyl‐CoA thiolase, associated with mental retardation

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A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

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An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis

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The skipping of constitutive exons in vivo induced by nonsense mutations

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Complete cDNA sequence of human foetal liver peroxisomal 3-oxoacyl-CoA thiolase

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Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat mitochondrial acetoacetyl-CoA thiolase

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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

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Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency

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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

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Molecular basis of 3-ketothiolase deficiency: identification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping

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Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families

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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

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Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency

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The active site cysteines of thiolase

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Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria

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3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency

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Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein

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Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene

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Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency

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Bio-Claisen condensation catalyzed by thiolase from Zoogloea ramigera. Active site cysteine residues

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Chromosome mapping of the human mitochondrial acetoacetyl-coenzyme A thiolase gene to 11q22.3----q23.1 by fluorescence in situ hybridization

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The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria

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3-Ketothiolase deficiency

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The presence of a new 3-oxoacyl-CoA thiolase in rat liver peroxisomes

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Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency

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Acetoacetyl CoA thiolase deficiency: A cause of severe ketoacidosis in infancy simulating salicylism

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Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

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Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts

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Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy

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Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism

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Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene

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Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency

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

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Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients

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Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

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10.1002/HUMU.1380050203

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