Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations

Figure 4

Expression pattern of WT and mutant FLNB proteins in patient’s muscle tissue and HEK293 cells. (a) The lysates of muscle tissues from normal control and our LRS proband were fractioned on 10% SDS-PAGE and analyzed by immunoblotting with anti-FLNB antibody. (b) Schematic diagrams of full-length and mutant FLNB vectors transfected into HEK293 cells. The numbers represent the mutation site in FLNB. The mutations were labeled with stars and triangles, respectively. (c) Whole HEK293 cell lysates from transiently transfected with WT or mutant FLNB plasmids were fractioned on 10% SDS-PAGE and analyzed by immunoblotting with anti-FLNB and anti-actin antibodies (). Quantitative analysis of FLNB, Flag, and actin levels was shown by the normalized to GAPDH levels (, , and by Student’s -test).

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