Jos Jansen

2 45 CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation Figure 3. Metabolic Labeling of Sialic Acids Shows Decreased Glycosylation in CCDC115- Deficient Fibroblasts (A and B) Metabolic labeling of fibroblasts with alkynyl-tagged sialic acid precursor ManNAl for 8 hr. Fibroblasts from three healthy controls were used, and the experiment was performed twice. A reduced absolute Golgi fluorescence signal was observed for siblings F1-II1 and F1-II2. Scale bars indicate 75 μ m. (C and D) Fibroblasts of F1-II4, transfected with empty vector or wild-type CCDC115 , were incubated with ManNAl for 6 hr, followed by fluorescent staining. The graphs indicate the absolute Golgi fluorescence intensity in a.u. Scale bars indicate 50 μ m. (E) Healthy control fibroblasts and fibroblasts from CCDC115-deficient individual F2-II1 were stained with anti- calnexin antibody. The graph shows the percentage of cells with a dilated ER. Approximately 50 cells were counted, and the experiment was performed twice. The graph shows the percentage of cells (mean ± SEM) with a dilated ER. Scale bars indicate 10 mm. N.D., not detectable.