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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease

Fig. 4

A Western blot analysis of cell lysates of HEK293T cells transfected with mutant PHAGE-GLA constructs containing 4q_35bp_4_57bp (b) or 3q_62bp_5q_51bp (c). Expression of wild-type PHAGE-GLA construct (a) or the mutant PHAGE-GLA construct containing 4_57bp in HEK293T cells was performed as controls. A hemagglutinin (HA) monoclonal antibody was used for the detection of α-GalA. GAPDH was used as the loading control. The wild-type and mutant protein of 52, 26, 23 and 19 kDa were detected. B α-GalA activity (nmol/h/104 cells) in HEK293T cells transfected with wild-type or mutant PHAGE-GLA constructs was expressed as the mean ± SD of triplicate experiments. A mock control plasmid was also transfected and the level of α-GalA activity in lysates from these cells (0.09 ± 0.01 nmol/h/104 cell) were subtracted from those in mutant- or wild-type-transfected cells

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