Mutations in NDUFS1 Cause Metabolic Reprogramming and Disruption of the Electron Transfer
Complex I (CI) is the first enzyme of the mitochondrial respiratory chain and couples the electron transfer with proton pumping.Mutations in genes encoding CI subunits can Softball Jersey frequently cause inborn metabolic errors.We applied proteome and metabolome profiling of patient-derived cells harboring pathogenic mutations in two distinct CI g