Fig. 7: HERC2-mediated regulation of the USP20-ULK1 axis in the HERC2-related disorder.

A, B Immunoblot analysis was performed on lysates derived from human skin fibroblasts, involving samples from three control individuals with the wild-type HERC2 (C1, C2 and C3) and three patients with the HERC2 P594L mutant variant (P1, P2 and P3). Band intensities corresponding to P-p38 were quantified and normalized based on total p38 protein levels (A); and bands corresponding to USP20 and ULK1 were quantified and subsequently normalized using clathrin heavy chain (CHC) protein levels as a loading control (B). The results are presented as fold changes relative to the control condition. Plots display the mean ± standard error of the mean (SEM). Representative results are shown for experiments that were independently repeated three times, and individual data points for each independent experimental repetition are represented as individual dots on the graphs. Significance was determined using unpaired Student’s t-test. Significance levels: *p < 0.05.