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

ABSTRACT: 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.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Cell Culture

SUBMITTER: Ilka Wittig

LAB HEAD: Amelie T. van der Ven

PROVIDER: PXD037757 | Pride | 2023-08-21

REPOSITORIES: Pride

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