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Fig. 4 | BMC Neurology

Fig. 4

From: Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

Fig. 4

Results of functional analysis of the c.2155C > T, p.R719W mutation. a HeLa cells transiently transfected with vectors containing the wild-type (upper panel) and mutant (bottom panel) DNM2. The p.R719W mutant exhibits punctate pattern of DNM2 expression (arrowheads), whereas cells transfected with wild type DNM2 show diffuse staining of the cytoplasm. Uptake of transferrin is reduced in cells expressing mutant DNM2 (arrows). Transferrin is labeled by Alexa-Flour 488 (green); nuclei are labeled with blue stain. b Quantification of transferrin uptake. The histogram represents the mean +/− standard error of the corrected total transferrin fluorescence of WT (n = 30 cells) and p.R719W (n = 25 cells); P < 0.001

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