Figure 2.

PLS3 expression in fibroblasts from healthy donors and PLS3 patients. (A) PLS3 is undetectable in fibroblast lysates of patients 1(P1), P2, P3, and P4 with the c.235del p.(Tyr79fs) frameshift mutation and P5 with the c.748+1G→A mutation. PLS3 expression of P6 with c.759_760insAAT insertion is stable. (B) Quantified Western blot results. (C) Relative gene expression of PLS3 was measured by qPCR; GAPDH was used to normalize gene expression (error bars indicate standard deviation, ** p < 0.01, *** p < 0.001, **** p < 0.0001).