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Article

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency

1 Aug 1997

Abstract excerpt

Mitochondrial trifunctional protein (TP), an enzyme of beta-oxidation, is a multienzyme complex composed of four molecules of the alpha-subunit (HADHA) containing the enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase domains and four molecules of the beta-subunit (HADHB) containing the 3-ketoacyl-CoA thiolase domain. An inborn error of this enzyme complex can cause sudden infant death syndrome, acute...

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Identifiers

PMID: 9259266
DOI: 10.1093/hmg/6.8.1215

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Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiencyPMID 9259266Read ↗

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.Semantic proximity Read ↗

Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.Semantic proximity Read ↗

General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.Semantic proximity Read ↗

Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.Semantic proximity Read ↗

Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.Semantic proximity Read ↗

Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.Semantic proximity Read ↗

Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.Semantic proximity Read ↗

Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.Semantic proximity Read ↗

Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein.Semantic proximity Read ↗

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.Semantic proximity Read ↗

Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene.Semantic proximity Read ↗

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