Fig. 2

Content of transcobalamin in healthy human controls, Gaucher disease patients and an asymptomatic carrier of GD. a Whole cell lysates (30 μg) of human control and GD fibroblasts were examined for intracellular content of transcobalamin, with and without HOCbl supplementation. Under our experimental conditions, no differences were identified between control and GD cells, suggesting normal expression of transport protein transcobalamin. Left panel: Western blot results obtained by probing whole cell lysates with anti-TC (rabbit anti-human, dilution 1:500) and secondary goat anti-rabbit IgG-HRP (1:1000) antibody. Right panels: Ponceau staining of nitrocellulose membrane after semi-dry blot transfer as protein loading control. b Semi-quantitative analysis of TC content shown in panel (a) shows slightly reduced TC content in GD cells compared to healthy human controls, albeit without statistical significance. Values shown are mean normalized areas plus minus standard error of the mean