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. Author manuscript; available in PMC: 2015 Mar 1.
Published in final edited form as: J Inherit Metab Dis. 2013 Oct 18;37(2):297–308. doi: 10.1007/s10545-013-9655-6

Fig. 1. GSL concentrations are increased in GNE myopathy patients’ fibroblasts.

Fig. 1

A: The GSL biosynthesis pathway. GSL glycan structures follow the Oxford standard system for carbohydrate diagrams. For further details on GSL biosynthesis please see Wennekes et al (Wennekes et al 2009).

B: Schematic structure of the GNE protein with mutations in GNE myopathy patients’ fibroblasts, epimerase enzymatic domain (GNE), kinase enzymatic domain (MNK), and allosteric site are indicated.

C: HPLC analysis of 2-AA labeled GSL-derived oligosaccharides isolated from control (+/+) and GNE myopathy patients’ fibroblasts grown in 10% FCS. Peak numbers refer to GSL species in Figure 1A.

D: Total GSL measurements from control (+/+) and GNE myopathy patients’ fibroblasts grown in 10% FCS.

E: Comparison of individual GSL concentrations in control (+/+) and GNE myopathy patients’ fibroblasts grown in 10% FCS.

F: GSL concentrations analysed by series in control (+/+) and GNE myopathy patients’ fibroblasts. Bars represent mean ± SEM (n=3) *P<0.05, **P<0.01, ***P<0.001 (two-tailed unpaired Student’s t-test).