Extended Data Fig. 7 |. PYURF (NDUFAFQ) is important for mitochondrial function and is disrupted in human disease.

a, b, Level of the indicated proteins in 293 cells during a cyclohexamide chase experiment following PYURF knockdown (a), and quantification of the immunoblot data (b). c, Level of assembled complex I in HAP1 WT and PYURF^KO cells as assessed by BN-PAGE and immunoblotting. d, Parameters of mitochondrial function for WT and PYURF^KO cells calculated from the mitochondrial stress test assay in Fig. 3j (mean ± s.d., n = 10–14, two-sided Student’s t-test). e, Brian MRI of the PYURF case demonstrating increased extra axial CSF spaces, cystic high signal cerebellar white-matter, cerebellar atrophy, and decreased myelination in the internal capsule. f, Whole exome sequencing analysis and filtering for rare, autosomal recessive variants in nuclear genes encoding mitochondrial proteins. MAF, minor allele frequency. g, Level of the indicated proteins in HAP1 unedited PYURF WT cells and PYURF c.289_290dup knock-in cells (two clones each) as assessed by immunoblotting. For western source data, see Supplementary Figure 1.