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
NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I
Szklarczyk R, Wanschers B, Nabuurs S, Nouws J, Nijtmans L, Huynen M. NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I. FEBS Letters 2011, 585: 737-743. PMID: 21310150, DOI: 10.1016/j.febslet.2011.01.046.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBiological AssayCell FractionationCell LineCloning, MolecularDisulfidesElectron Transport Complex IElectrophoresis, Polyacrylamide GelEndopeptidase KHumansIron-Sulfur ProteinsMitochondrial MembranesModels, MolecularMolecular Sequence DataNADH DehydrogenaseNADH, NADPH OxidoreductasesOxidation-ReductionProtein Structure, SecondaryProtein Structure, TertiaryProtein SubunitsSequence AlignmentSurface PropertiesConceptsDisulfide bridgesLarge protein complexesIntra-molecular disulfide bridgesEukaryotic subunitsEvolutionary originSequence conservationProtein complexesMembrane domainsMost subunitsNDUFA8Oxidative phosphorylationComplex ISubunitsNDUFB7LocalizationComplexesPhosphorylationNDUFS5Crystal structureConservationDomain