Fig. 6.

Epalrestat boosts human PMM2 enzymatic activity in multiple PMM2-CDG patient fibroblasts. (A) Supplemented samples were treated with 10 µM epalrestat for 24 h. PMM2 enzymatic activity was measured in PMM2-CDG fibroblasts with the genotype R141H/E139K (blue circles), in PMM2-CDG fibroblasts with the genotype R141H/N216I (red squares) and in PMM2-CDG fibroblasts with the genotype R141H/F183S (green triangles). (B) Bar plot of mean PMM2 enzymatic activity with or without epalrestat treatment (P=0.0321). Each black circle indicates the mean of replicates for each fibroblast. Error bars in the bar graphs indicate standard error of means. P-value was determined by t-test (T.TEST function in Excel).