Fig. 4: Loss of Stx5S alters ER and Golgi morphology.
From: Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
a Representative transmission electron micrographs from healthy donor fibroblasts (left) or Stx5M55V patient fibroblasts (right). Scale bars, 1 µm. N, nucleus; G, Golgi apparatus; ER, endoplasmic reticulum; M, mitochondrion. More electron micrographs in Supplementary Fig. 9. b ER perimeter and area quantification of panel (a), the ratios of the perimeters over the areas are plotted. N = 144 (both Ctrl and Stx5M55V) ER sections. Mean ± 95% CI. Unpaired two-sided Student’s t-test. ****P = 3.8 × 10−10. c Same as panel (b), but now for Golgi. N = 400 (both Ctrl and Stx5M55V) Golgi sections. Mean ± 95% CI. Unpaired two-sided Student’s t-test. ****P < 2.2 × 10−16. d Immunofluorescence microscopy of Stx5L (green in merge) and GM130 (magenta) in primary dermal fibroblasts of healthy donors (green, Ctrl) or Stx5M55V patients (orange, Stx5M55V). Representative confocal micrographs. Scale bars, 10 µm. DAPI in blue. e Pearson’s correlations coefficients between Stx5L and GM130 of panel (d). N = 102 (Ctrl) and 135 (Stx5M55V) cells from 2 unique individuals tested twice. Mean ± 95CI. Unpaired two-sided Student’s t-test. ****P = 9.45 × 10−14. f, g Same as panels (d, e), but now for Stx5L (green) and TGN46 (magenta). N = 147 (Ctrl) and 156 (Stx5M55V) from 2 unique individuals tested twice. Scale bars, 10 µm. Mean ± 95CI. Unpaired two-sided Student’s t-test. **P = 0.0051.
