ArticlePloS one2013
On the molecular basis of D-bifunctional protein deficiency type III.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Modelling Peroxisomal Disorders in Zebrafish.Cells · 2025Review
- Case Report: D-bifunctional protein deficiency caused by novel compound heterozygoteFrontiers in genetics · 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
- Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency.Molecular genetics and metabolism reports · 2020Article
- Biallelic mutation ofNeurology. Genetics · 2020Article
- Types and effects of protein variations.Human genetics · 2015Article
- Developmental roles of D-bifunctional protein-A zebrafish model of peroxisome dysfunction.Molecules and cells · 2014Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Molecular basis of D-bifunctional protein (D-BP) deficiency was studied with wild type and five disease-causing variants of 3R-hydroxyacyl-CoA dehydrogenase fragment of the human MFE-2 (multifunctional enzyme type 2) protein. Complementation analysis in vivo in yeast and in vitro enzyme kinetic and stability determinants as well as in silico stability and structural fluctuation calculations were correlated with clinical data of known patients. Despite variations not affecting the catalytic residues, enzyme kinetic performance (K(m), V(max) and k(cat)) of the recombinant protein variants were compromised to a varying extent and this can be judged as the direct molecular cause for D-BP deficiency. Protein stability plays an additional role in producing non-functionality of MFE-2 in case structural variations affect cofactor or substrate binding sites. Structure-function considerations of the variant proteins matched well with the available data of the patients.
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Registered trials
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