Fig. 3

GBA1 mutation induces ER expansion and ER stress. A ER expansion in PBMCs of patients with GD. Histogram of calnexin (an ER marker) staining and overall median fluorescence intensity (MFI) in patients with GD compared with age-, gender- and BMI-matched HDs (n = 6/group). B Quantification of MFI of calnexin in PBMCs of patients with GD compared with age-, sex-, and BMI-matched HDs (n = 6/group). C Representative confocal microscopy imaging of calnexin in PBMCs of patients with GD compared with age-, sex-, and BMI-matched HDs. Green indicates calnexin, and blue indicates nuclei. Scale bar: 10 μm. D Quantification of MFI of calnexin in PBMCs of patients with GD compared with age-, sex-, and BMI-matched HDs. E Gene expression analysis of ATF4, CHOP, TRIB3, XBP1, and GRP78 in PBMCs of patients with GD compared with age-, sex-, and BMI-matched HDs (n = 6/group). Data are presented as mean ± SEM. P values were determined by two-tailed paired Wilcoxon test (B, D, and E); *P < 0.05, **P < 0.01, and ***P < 0.001