Figure 2.

Rescue experiments for CI and CIV enzyme activity. Fibroblasts from S1 and a control were transfected with PNPT1^wt (wild-type), PNPT1^p.Gln254Lys (p.(Gln254Lys)), PNPT1^p.Ala510Pro (p.(Ala510Pro)) and empty vector constructs. Untransfected cells from the control and S1 were included. Data are means±SEM from three independent transfection experiments, each analysed in triplicate (n=9). *P<0.05, **P<0.01 and ***P<0.001 significantly different from untransfected control cells. ^##P<0.01 and ^###P<0.001 are significantly different from untransfected S1 cells.