Fig. 2.

Residual enzymatic activity in patient fibroblasts upon treatment with PTC124 treatment. (A) Patients responsive to gentamicin treatment were treated with or without PTC124 (5 μM) for 72 h. Equal amounts of protein lysates, with or without 5 μM PTC124, were seeded and the corresponding enzymatic activities were determined using a fluorimetric assay with 4-methylumbelliferyl substrates [acid sphingomyelinase for patient 1 (P1); β-galactosidase for patient 4 (P4); α-N-acetylglucosaminidase for patients 5 and 6 (P5 and P6), and iduronate-2-sulfatase for patient 11 (P11)]. (B) Residual enzymatic activity in patient fibroblasts upon PTC124 treatment shown as a percentage relative to controls for each disease (*p < 0.05, **p < 0.025, ***p < 0.005)