Figure 2.

Mutant Thorase is expressed in patient-derived fibroblasts. (A) Immunoblot of lysates obtained from patient and control fibroblasts. Expression of Thorase was monitored by using anti-Thorase antibody, and anti-actin antibody was used to control for equal loading. As the anti-Thorase antibody was generated against the C-terminus and this region contains a new amino acid composition in the mutant, detection of Thorase in patient cells was difficult (compare the clear band in control and the diffuse band in patient cells). (B) Optical densitometry quantification of A. Values represent the mean ± SEM (n = 3, n.s. P > 0.05, Tukey’s multiple comparison tests).