Figure 4. Patients with UPS14 biallelic variants are associated with alterations of the autophagy/mitophagy pathways.

Left panel: ten to twenty micrograms of RIPA cell lysates obtained from T cells of subjects with USP14 variants were separated by SDS-PAGE prior to western-blotting using antibodies specific for USP14, α4, BNIP3L/NIX, LC3B and α-tubulin (loading control), as indicated. Shown are representative western-blots of three independent experiments performed. Right panel: Shown is the quantification of the Western-blots by densitometry. Data are presented as foldchanges in the affected male and female children vs their father and/or mother whose densitometric measurements were set to 1 (gridline), as indicated. Columns indicate the foldchange mean values ± SEM calculated from the normalizations of three independent biological replicates. Statistical significance was assessed by unpaired Student’s test (*p<0.05 and ***p<0.001).