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
2012
The Assembly of Human Complex I
Nouws J, Calvaruso M, Nijtmans L. The Assembly of Human Complex I. 2012, 193-217. DOI: 10.1007/978-94-007-4138-6_10.Peer-Reviewed Original ResearchComplex IHuman mitochondrial complex IComplex I assemblyHuman complex IMitochondrial complex IPrecise molecular mechanismsMitochondrial genomeSpecialized proteinsFunctional enzymeMolecular mechanismsChaperonesAssemblyEnzymeStepwise processDifferent stepsGenomeSubunitsProteinDifferent stagesMembraneComplicated process