2013
ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies
Nouws J, Brinke H, Nijtmans L, Houten S. ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies. Human Molecular Genetics 2013, 23: 1311-1319. PMID: 24158852, DOI: 10.1093/hmg/ddt521.Peer-Reviewed Original ResearchMeSH KeywordsAcyl-CoA Dehydrogenase, Long-ChainAcyl-CoA DehydrogenasesCarnitineCatalysisCell LineCongenital Bone Marrow Failure SyndromesElectron Transport Complex IEnzyme ActivationFatty AcidsHumansLipid Metabolism, Inborn ErrorsMitochondriaMitochondrial DiseasesModels, MolecularMolecular WeightMuscular DiseasesMutationOxidation-ReductionOxidative PhosphorylationProtein ConformationConceptsAcyl-CoA dehydrogenase 9Complex IFatty acid oxidationEnzymatic activityLong-chain acyl-CoA dehydrogenaseAcid oxidationAcyl-CoA dehydrogenaseDuplication eventsAssembly intermediatesKnockdown experimentsFatty acid loadingOxidative phosphorylationFatty acid oxidation deficiencyMetabolic pathwaysComplete rescueDeficient fibroblastsMajor metabolic pathwaysEnzyme activityControl fibroblastsFibroblastsVLCAD deficiencyPhosphorylationMitochondriaKnockdownProtein
2011
Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options
Nouws J, Nijtmans L, Smeitink J, Vogel R. Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. Brain 2011, 135: 12-22. PMID: 22036961, DOI: 10.1093/brain/awr261.Peer-Reviewed Original ResearchMeSH KeywordsDNA, MitochondrialElectron Transport Complex IHumansMitochondrial DiseasesMolecular ChaperonesOxidative PhosphorylationConceptsComplex I deficiencyAssembly factorsDisease genesI deficiencySpecific assembly factorsGeneral molecular mechanismMitochondrial complex I deficiencyOxidative phosphorylation disordersDisease-causing mutationsSuch genesMolecular mechanismsComplex IGenesLarge diversityProgressive encephalomyopathyChaperonesDiversityMutationsEncephalomyopathyDeficiencyNew class
2010
Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I
Nouws J, Nijtmans L, Houten S, van den Brand M, Huynen M, Venselaar H, Hoefs S, Gloerich J, Kronick J, Hutchin T, Willems P, Rodenburg R, Wanders R, van den Heuvel L, Smeitink J, Vogel R. Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I. Cell Metabolism 2010, 12: 283-294. PMID: 20816094, DOI: 10.1016/j.cmet.2010.08.002.Peer-Reviewed Original ResearchMeSH KeywordsAcyl-CoA Dehydrogenase, Long-ChainAcyl-CoA DehydrogenasesAdaptor Proteins, Signal TransducingAmino Acid SequenceAnimalsCells, CulturedElectron Transport Complex IFatty AcidsFemaleFibroblastsHumansInfantMaleMitochondriaModels, MolecularMolecular Sequence DataMutationNADH DehydrogenaseOxidation-ReductionOxidative PhosphorylationPhylogenyPregnancyProtein Structure, TertiaryRNA InterferenceSequence AnalysisSequence Analysis, DNAConceptsAcyl-CoA dehydrogenase 9Complex I deficiencyFatty acid oxidationComplex IOxidative phosphorylation complexes IAcyl-CoA dehydrogenase familyMitochondrial metabolic pathwaysI deficiencyLong-chain acyl-CoA dehydrogenaseAcid oxidationAcyl-CoA dehydrogenaseFactors NDUFAF1Vertebrate lineageDehydrogenase familyRelated metabolic enzymesLong-chain fatty acidsMetabolic enzymesOxidative phosphorylationLong-chain fatty acid oxidationMitochondrial beta oxidationMetabolic pathwaysACAD9 mutationsBeta oxidationFatty acidsNDUFAF1