Fig. 7

ACTB-AST patient platelets have disordered actin and microtubule cytoskeletons. a–c Assessment of the actin and microtubule cytoskeletons in platelets purified from healthy control (C), patient 3 (P3), patient 4 (P4), and patient 5 (P5) EDTA-peripheral blood (1 experimental replicate); a Representative maximum intensity projections (top row) are given for β-CYA (green) and γ-CYA (magenta) labeled samples, showing reduced β-CYA:γ-CYA ratios in patient samples. Mid-stack slices of the marked regions of interest (white squares) are shown below, demonstrating cortical redistribution of actin isoforms in patient thrombocytes; b Mid-stack slices show strong cortical recruitment of NM-2A and α-actinin 1, and a moderate cortical enrichment of Filamin A in patient platelets; c Representative images demonstrate the highly disordered nature of β-tubulin in patient-derived platelets compared to those from a healthy control. 3–6 images (total of 20–60 platelets) were assessed for each protein of interest. All scale bars represent 2 µm