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. 2017 Aug 17;101(3):428–440. doi: 10.1016/j.ajhg.2017.07.010

Figure 4.

Figure 4

TBC1D23 Truncating Mutation Alters Intracellular Transport

(A) Immunoblot from human fibroblasts showing the absence of TBC1D23 in the presence of the mutation.

(B) Immunofluoresence staining against endogenous TBC1D23 of control and mutant fibroblasts showing the lack of the protein in mutants. Scale bar, 20 μm.

(C) Kymographs and colored kymographs (green, anterograde; blue, static; red, retrograde) showing the trajectories of single NPY-GFP vesicles. Histograms represent mean ± SEM of average velocity (t = 3.864; p = 0.0028; n control = 220, n mutant = 362), %pausing time (t = 4.448; p < 0.0001; n control = 59, n mutant = 98), and instantaneous velocity (anterograde: t = 2.668; p = 0.0049; n control = 271, n mutant = 152; retrograde: t = 3.086; p = 0.0041; n control = 267, n mutant = 173) of NPY-GFP vesicles. Scale bars: 5 μm and 5 s.

(D) Kymographs and colored kymographs (green, anterograde; blue, static; red, retrograde) showing the trajectories of single lysosomes. Histograms represent mean ± SEM of average velocity (t = 6.119; p < 0.0001; n control = 224, n mutant = 137), %pausing time (t = 4.600; p < 0.0001; n control = 190, n mutant = 137), and instantaneous velocity (anterograde: t = 4.545; p < 0.0001; n control = 318, n mutant = 218; retrograde: t = 2.223; p = 0.0264; n control = 394, n mutant = 245) of lysosomes. Scale bars: 5 μm and 5 s.