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3-Ketothiolase deficiency: molecular heterogeneity of the enzyme defect and cloning of the cDNA.

Progress in clinical and biological research - 1 Jan 1990

Yamaguchi S, Fukao T, Nagasawa H, Orii T, Sakura N, Schutgens R B, Sweetman L, Fujiki Y, Kamijo K, Osumi T

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PMID: 1970183

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Research trail→

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3-Ketothiolase deficiency: molecular heterogeneity of the enzyme defect and cloning of the cDNA.PMID 1970183Read ↗

Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency.Semantic proximity Read ↗

[Short-chain 3-ketoacyl-CoA thiolase deficiency (beta-ketothiolase deficiency)].Semantic proximity Read ↗

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

[3-ketoacyl-CoA thiolase deficiency].Semantic proximity Read ↗

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.Semantic proximity Read ↗

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.Semantic proximity Read ↗

[Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency].Semantic proximity Read ↗

Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India.Semantic proximity Read ↗

Mutations in the transketolase-like gene TKTL1: clinical implications for neurodegenerative diseases, diabetes and cancer.Semantic proximity Read ↗

The beta-hexosaminidase story in Toronto: from enzyme structure to gene mutation.Semantic proximity Read ↗

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