ArticleProceedings of the National Academy of Sciences of the United States of America1998
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 149 citations in OpenAlex.
- Deciphering 17-β-hydroxysteroid dehydrogenase 4: from molecular insights to cancer therapeutics.Cancer cell international · 2025Review
- Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder.Case reports in medicine · 2024Article
- Article
- Biallelic mutation ofNeurology. Genetics · 2020Article
- The Biosynthesis of Enzymatically Oxidized Lipids.Frontiers in endocrinology · 2020Review
- Metabolic etiologies in West syndrome.Epilepsia open · 2018Review
- Loss of an Androgen-Inactivating and Isoform-Specific HSD17B4 Splice Form Enables Emergence of Castration-Resistant Prostate Cancer.Cell reports · 2018Article
- Metabolic enzymes dysregulation in heart failure: the prospective therapy.Heart failure reviews · 2017Review
- In Silico Functional Annotation of Genomic Variation.Current protocols in human genetics · 2016Review
- The bifunctional protein TtFARAT from Tetrahymena thermophila catalyzes the formation of both precursors required to initiate ether lipid biosynthesis.The Journal of biological chemistry · 2014Article
- Developmental roles of D-bifunctional protein-A zebrafish model of peroxisome dysfunction.Molecules and cells · 2014Article
- Article
- SILEC: a protocol for generating and using isotopically labeled coenzyme A mass spectrometry standards.Nature protocols · 2011Article
- The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders.Endocrine reviews · 2011Review
- Identification of a substrate-binding site in a peroxisomal beta-oxidation enzyme by photoaffinity labeling with a novel palmitoyl derivative.The Journal of biological chemistry · 2010Article
- Androgen synthesis in adrenarche.Reviews in endocrine & metabolic disorders · 2009Review
- Mechanisms of disease: Inborn errors of bile acid synthesis.Nature clinical practice. Gastroenterology & hepatology · 2008Review
- Expression and localization of estrogenic type 12 17beta-hydroxysteroid dehydrogenase in the cynomolgus monkey.BMC biochemistry · 2007Article
- Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.American journal of human genetics · 2006Article
- Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Peroxisomes play an essential role in a number of different metabolic pathways, including the beta-oxidation of a distinct set of fatty acids and fatty acid derivatives. The importance of the peroxisomal beta-oxidation system in humans is made apparent by the existence of a group of inherited diseases in which peroxisomal beta-oxidation is impaired. This includes X-linked adrenoleukodystrophy and other disorders with a defined defect. On the other hand, many patients have been described with a defect in peroxisomal beta-oxidation of unknown etiology. Resolution of the defects in these patients requires the elucidation of the enzymatic organization of the peroxisomal beta-oxidation system. Importantly, a new peroxisomal beta-oxidation enzyme was recently described called D-bifunctional protein with enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase activity primarily reacting with alpha-methyl fatty acids like pristanic acid and di- and trihydroxycholestanoic acid. In this patient we describe the first case of D-bifunctional protein deficiency as resolved by enzyme activity measurements and mutation analysis. The mutation found (Gly16Ser) is in the dehydrogenase coding part of the gene in an important loop of the Rossman fold forming the NAD+-binding site. The results show that the newly identified D-bifunctional protein plays an essential role in the peroxisomal beta-oxidation pathway that cannot be compensated for by the L-specific bifunctional protein.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.