Fig. 5

Reduced ATP1A3 and ATPase activity in patient-derived iNeurons expressing ATP1A3 (p.A813V). (a) Confocal images displaying reduced ATP1A3 expression (green) with phalloidin (red) in patient-derived induced neurons, fixed at day 20 post-differentiation from fibroblasts. Representative images from n = 3 experiments, each representing an independent differentiation. Scale bars: 25 µm. (b) Western blotting reveals reduced ATP1A3 protein levels in patient-derived iNeurons at day 20 compared with healthy controls. Data representative of n = 3 independent experiments. GAPDH serves as the loading control. (c) Quantification of Na⁺/K⁺-ATPase activity in two controls (CTRL1, CTRL2) and patient-derived iNeurons from three independent experiments, confirming significant functional impairment. Bars depict mean ± standard error of the mean. Statistical analysis was performed using one-way analysis of variance. *p < 0.025