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