A Novel Constitutively Active , p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization

Figure 2

Biochemical activity of RAB11A-R33P. (a) Measurement of GTP-hydrolysis activity. The activities were assessed by measuring residual amounts of GTP indicated as luminescence intensities with GTPase Glo assay kit. EC50 (half maximal effective concentration) values for each RAB11A wild type (WT), -R33P, and -Q70L were estimated from respective sigmoidal fitting curves and were shown as a box plot at the far right (). , (versus RAB11A WT). (b) Measurement of intrinsic GTP/GDP exchange activity. RAB11A wild type (WT), -R33P, and -Q70L were preloaded with fluorescent ^mantGDP and incubated with nonhydrolysable GTP analog. ^mantGDP dissociation rates were determined by monitoring fluorescent decay that is caused by the replacement of fluorescent ^mantGDP by GTP. Observed rate constant (kobs (×10⁻⁵ s⁻¹)) for each RAB11A was calculated and shown as a box plot in the right ().

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