Fig. 4From: Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry diseaseA 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 cellsBack to article page