Fig. 8.

hiPSC-derived neurons obtained from FIME and EOEE TBC1D24 patients show different axonal phenotypes. a Representative images of hiPSC-derived neurons at 10 days of differentiation from TBC1D24 patients (FIME, PAT 1 and EOEE, PAT 2) and controls (C1 and C2) were immunolabeled for SMI-312 and MAP2. Arrows indicate MAP2/SMI-312 double-positive neurons, while arrowheads indicate MAP2-positive/SMI312-negative neurons. Scale bar, 20 μm. b Representative experiments showing the developmental profile with percentages of SMI-312-positive cells in respect to the total MAP2-positive cells for hiPSC-derived neurons from TBC1D24 patients and relative controls. c Histograms showing the ratio of SMI-312 on MAP2-positive hiPSCs-derived neurons with respect to respective control hiPSCs-derived neurons (dotted line) at various times of differentiation. Data are means ± SEM of 4 experiments (two distinct clones from each experimental group). Fields analyzed for CTR 1, PAT 1, CTR 2, PAT 2, were respectively: 153, 211, 136, 212 (5 days of differentiation); 146, 209, 229, 199 (10 days of differentiation); 174, 92, 121, 120 (15 days of differentiation). Kruskal–Wallis/Dunn’s tests versus respective controls: **p < 0.01; ****p < 0.0001