ArticleAmerican journal of human genetics1999
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- HSD17B4 deficiency causes dysregulation of primary cilia and is alleviated by acetyl-CoA.Nature communications · 2025Article
- Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance.Genome medicine · 2025Article
- D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings: Case Report and Review of the Literature.International journal of molecular sciences · 2024Review
- Two NovelFrontiers in pediatrics · 2021Article
- Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.Molecular genetics and metabolism reports · 2020Article
- A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.BMC medical genetics · 2017Article
- Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line.Histochemistry and cell biology · 2017Article
- Metabolic enzymes dysregulation in heart failure: the prospective therapy.Heart failure reviews · 2017Review
- The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.Journal of inherited metabolic disease · 2016Review
- In Silico Functional Annotation of Genomic Variation.Current protocols in human genetics · 2016Review
- Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.American journal of human genetics · 2015Article
- Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism.Journal of lipid research · 2010Review
- 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
- Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.American journal of human genetics · 2010Article
- Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.American journal of human genetics · 2006Article
- MFE1, a member of the peroxisomal hydroxyacyl coenzyme A dehydrogenase family, affects fatty acid metabolism necessary for morphogenesis in Dictyostelium spp.Eukaryotic cell · 2003Article
- Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.American journal of human genetics · 2002Article
- The role of alpha-methylacyl-CoA racemase in bile acid synthesis.The Biochemical journal · 2002Article
- Pex11p plays a primary role in medium-chain fatty acid oxidation, a process that affects peroxisome number and size in Saccharomyces cerevisiae.The Journal of cell biology · 2000Article
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Authors and funding
11 authors.
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No grant is acknowledged in the PubMed record.
Abstract
In the past few years, many patients have been described who have a defect of unknown origin in the peroxisomal beta-oxidation pathway. Complementation analysis has been done by various groups to establish the extent of the genetic heterogeneity among the patients. These studies were based on the use of two established cell lines, one with a deficiency of acyl-CoA oxidase and one with a deficiency of l-bifunctional protein (l-BP), and they showed that most patients belong to the l-BP-deficient group. However, molecular analysis of the cDNA encoding l-BP in patients failed to show any mutations. The recent identification of a new d-specific bifunctional protein (d-BP) prompted us to reinvestigate the original patient with presumed l-BP deficiency. In a collaborative effort, we have now found that the true defect in this patient is at the level of the d-BP and not at the level of the l-BP. Our results suggest that most, if not all, patients whose condition has been diagnosed as l-BP are, in fact, d-BP deficient. We tested this hypothesis in nine patients whose condition was diagnosed as l-BP deficiency on the basis of complementation analysis and found clear-cut mutations in the d-BP cDNA from all patients.
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