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This study revealed that 21% of the investigated cohort of ASD patients carried mtDNA or nuclear DNA (nDNA) mutations related to mitochondrial dysfunction

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Calculations used to derive SCENITH parameters: (1) [C = gMFI of anti-Puro-Fluorochrome upon Control treatment] (2) [2DG = gMFI of anti-Puro-Fluorochrome upon 2DG treatment] (3) [O = gMFI of anti-Puro-Fluorochrome upon Oligomycin treatment] (4) [Eto = gMFI of anti-Puro-Fluorochrome upon Etomoxir treatment] (5) [Tele = gMFI of anti-Puro-Fluorochrome upon CB-839 treatment] (6) [DGO = gMFI of anti-Puro-Fluorochrome upon 2DG + Oligomycin (DGO) treatment] (7) [Glucose dependence = 100(C 2DG)/(C-DGO)] (8) [Mitochondrial dependence = 100(C O)/(C-DGO)] (9) [FAO dependence = 100(C Eto)/(C-DGO)] (10) [Glutaminolysis dependence = 100(C Tele)/(C-DGO)] (11) [Glycolytic Capacity = 100 Mitochondrial dependence] (12) [FAAO = 100 Glucose dependence] Single-cell metabolic regulome profiling (scMEP) by mass cytometry scMEP analysis was performed as recently described 29

10.1038/s41586-019-1705-2 Nature 4 CamaschellaC.NaiA.SilvestriL
