Fig. 5.

To analyse the impact of the patient mutation on the protein level, HEK293T cells expressing FLCN WT or Mut fused to GFP using the TALEN technology were generated. a and b Western blot analyses reveals that the mutant protein is hardly expressed. This could in part be alleviated with MG-132 (a, treatment with 10 μM for 2 h) or chloroquine (b, treatment with 50 μM for 24 h), indicating an involvement of the proteasome and lysosome in the degradation process. Tubulin served as loading control (p =3, error bars indicate SEM, * = p < 0.05, n.s. = not significant, two tailed t-test)