Complexome profiling of mitochondrial protein complexes to study assembly and stability of complex I in a patient with a defect in the NDUFAF3 gene

NDUFAF3 is a factor required for the coordinated assembly of the first complex of the oxidative phosphorylation system (OXPHOS). Here we used a complexome profiling of fibroblasts from a patient to analyze the consequence of a mutation in the NDUFAF3 gene on the molecular level.