Figure 7.

Lysosomal fractions of dermal fibroblasts from later-onset patients have significantly higher GALC activities than those from infantile-onset patients. A, The table shows clinical and molecular information of GLD dermal fibroblasts used in this study, which were from published (Tappino et al., 2010) and unpublished samples (Mirella Filocamo, Telethon Biobank, Italy). K359AfsX3 (lysine 359 substituted by alanine followed by a frame-shift translational termination) is located close to the frequent 30 kb deletion GLD mutation and therefore will generate a truncation similar to the 30 kb deletion. B, GALC activities in total cell lysates or lysosomal fractions of the dermal fibroblasts from GLD patients and age-matched normal controls (<4 years old). GALC activities from total cell lysates of the later-onset mutants are many times indistinguishable from those of the infantile forms. However, GALC activities from the lysosomal fractions showed that the later-onset mutants have more enzyme activity in the lysosome and are more reliably distinguished from those of the infantile forms. WT-1 is male and WT-2 is female. Error bars indicate SD of triplicates. *p < 0.05 (Student's t test). **p < 0.01 (Student's t test). ***p < 0.001 (Student's t test). n.s., Not significant.