Fig. 5: UBLCP1 mRNA expression and function are restored in fibroblasts from ASD patient after cells treatment with gentamicin.
From: A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity
a Control fibroblasts (upper panel) and fibroblasts with mutant UBLCP1 (del g.158710261CAAAG > C) (middle panels) treated for 24 h with 100 µM gentamicin (lower panels), then immunostained with antibody against UBLCP1 (green) and counterstained with Hoechst (blue). b UBLCP1 nuclear protein expression and c UBLCP1 cytoplasmic protein expression in fibroblasts from unaffected controls (n = 66), from ASD patient (n = 79), and cells treated with gentamicin (n = 72). ***P = 0.0001, ****P < 0.0001; mean ± SEM. Scale bar: 10 µm. d Decrease in proteasome activity is observed in fibroblasts from ASD patient cells after treatment with 100 µM gentamicin for 24 h compared to the same fibroblasts without treatment. Proteasome activity was measured using the fluorogenic substrate Suc-LLVY-AMC. Student’s t test, *P = 0.0152, n = 3 experiments per group.
