ArticleMolecules (Basel, Switzerland)2018
Bacterial Production, Characterization and Protein Modeling of a Novel Monofuctional Isoform of FAD Synthase in Humans: An Emergency Protein?
Article in Molecules (Basel, Switzerland), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 33 citations in OpenAlex.
- A familial case of FLAD1 protein deficiency associated with impaired adrenal steroidogenesis.JCI insight · 2026Article
- Flavin-deficient erythrocytes offer protection against malaria parasites.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Revitalising Riboflavin: Unveiling Its Timeless Significance in Human Physiology and Health.Foods (Basel, Switzerland) · 2024Review
- New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases.Nutrition & metabolism · 2023Review
- Riboflavin kinase and pyridoxine 5'-phosphate oxidase complex formation envisages transient interactions for FMN cofactor delivery.Frontiers in molecular biosciences · 2023Article
- Article
- Mining the Flavoproteome of Brucella ovis, the Brucellosis Causing Agent in Ovis aries.Microbiology spectrum · 2022Article
- Purification and characterization of recombinant FAD synthetase fromBiochemistry and biophysics reports · 2021Article
- Subcellular Localization of Fad1p inLife (Basel, Switzerland) · 2021Article
- Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy.International journal of molecular sciences · 2020Review
- Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.International journal of molecular sciences · 2020Review
- Insights into the FMNAT Active Site of FAD Synthase: Aromaticity is Essential for Flavin Binding and Catalysis.International journal of molecular sciences · 2020Article
- Mutation of Aspartate 238 in FAD Synthase Isoform 6 Increases the Specific Activity by Weakening the FAD Binding.International journal of molecular sciences · 2019Article
- FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.Molecular genetics & genomic medicine · 2019Article
- A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy.JIMD reports · 2019Article
- The RFK catalytic cycle of the pathogen Streptococcus pneumoniae shows species-specific features in prokaryotic FMN synthesis.Journal of enzyme inhibition and medicinal chemistry · 2018Article
- Special Issue: Flavoenzymes.Molecules (Basel, Switzerland) · 2018Article
- [A novel mutation in the ETFDH gene of an infant with multiple acyl-CoA dehydrogenase deficiency].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
FAD synthase (FADS, EC 2.7.7.2) is the last essential enzyme involved in the pathway of biosynthesis of Flavin cofactors starting from Riboflavin (Rf). Alternative splicing of the human FLAD1 gene generates different isoforms of the enzyme FAD synthase. Besides the well characterized isoform 1 and 2, other FADS isoforms with different catalytic domains have been detected, which are splice variants. We report the characterization of one of these novel isoforms, a 320 amino acid protein, consisting of the sole C-terminal 3'-phosphoadenosine 5'-phosphosulfate (PAPS) reductase domain (named FADS6). This isoform has been previously detected in Riboflavin-Responsive (RR-MADD) and Non-responsive Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) patients with frameshift mutations of FLAD1 gene. To functionally characterize the hFADS6, it has been over-expressed in
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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.