Fig. 3: Glycosylation enzymes mislocalize in Stx5M55V patient fibroblasts.
From: Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
a Immunofluorescence microscopy of MGAT1 (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. N = 157 (Ctrl) and 126 (Stx5M55V) cells from two unique individuals tested twice. b Pearson’s correlations coefficients between MGAT1 and GM130 of panel (a). N = 157 (Ctrl) and 126 (Stx5M55V) from two unique individuals tested twice. Mean ± 95% CI. Unpaired two-sided Student’s t-test. *P = 0.047. c, d Same as panels (a, b), but now for MGAT1 (green) and TGN46 (magenta). N = 157 (Ctrl) and 162 (Stx5M55V) cells from two unique individuals tested twice. Scale bars, 10 µm. Mean ± 95% CI. Unpaired two-sided Student’s t-test. ****P < 2.2 × 10−16. e, f Same as panels (a, b), but now for GALNT2 (green) and ZFPL1 (magenta). N = 240 (Ctrl) and 146 (Stx5M55V) cells from two unique individuals tested twice. Scale bars, 10 µm. Mean ± 95% CI. Unpaired two-sided Student’s t-test. ****P = 5.9 × 10−7. g, h Same as panels (a, b), but now for GALNT2 (green) and TGN46 (magenta). N = 172 (Ctrl) and 152 (Stx5M55V) cells from two unique individuals tested twice. Scale bars, 10 µm. Mean ± 95% CI. Unpaired two-sided Student’s t-test. ****P = 1.7 × 10−11.
