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 deficiencyPhosphorylationMitochondriaKnockdownProtein3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients
Wortmann S, Kluijtmans L, Rodenburg R, Sass J, Nouws J, van Kaauwen E, Kleefstra T, Tranebjaerg L, de Vries M, Isohanni P, Walter K, Alkuraya F, Smuts I, Reinecke C, van der Westhuizen F, Thorburn D, Smeitink J, Morava E, Wevers R. 3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients. Journal Of Inherited Metabolic Disease 2013, 36: 913-921. PMID: 23355087, DOI: 10.1007/s10545-012-9579-6.Peer-Reviewed Original ResearchConceptsMetabolic disordersMitochondrial dysfunctionElevated urinary excretionRoutine metabolic screeningPatient cohortUrinary excretionPatientsMitochondrial DNA depletionMetabolic screeningHydratase deficiencyInborn errorsRelated pathologiesUrine samplesDisordersAciduriaDysfunctionDNA depletionLeucine degradationRespiratory chain complex deficienciesMitochondrial disordersCommon denominatorComplex deficiencySERAC1Consistent featureOPA3
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