Fig. 1

Representative western blot analysis of phospho-S6 protein levels in control and patient LCLs. Expression of phospho S6 (Ser 240/244) and GAPDH in variable amounts of protein extract (total protein indicated by shaded bars) are depicted in the upper and lower panel, respectively. After normalisation with GAPDH, there was increased expression of phospho-S6 in patients with mutations (Patient 1, 2, 4) and without mutations (Patient 7, 8), compared to wild type (WT) and a patient without mutations (Patient 11)