2013
A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment
Nouws J, Wibrand F, van den Brand M, Venselaar H, Duno M, Lund A, Trautner S, Nijtmans L, Østergard E. A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment. JIMD Reports 2013, 12: 37-45. PMID: 23996478, PMCID: PMC3897792, DOI: 10.1007/8904_2013_242.Peer-Reviewed Original ResearchComplex I deficiencyI deficiencyAge 7 weeksHigher lactate levelsSevere hypertrophic cardiomyopathyMonths of ageNew pathogenic mutationsI protein levelsPatient fibroblastsACAD9 mutationsComplex I protein levelsCardiogenic shockIntercurrent illnessRespiratory insufficiencyMuscle weaknessHypertrophic cardiomyopathyRiboflavin treatmentFrequent causeHomozygous missense mutationLactate levelsRiboflavin supplementationPatientsRespiratory chain activityPathogenic mutationsProtein levels
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 ResearchConceptsComplex 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