Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation

► Mutant GAA was degraded by proteasome in Pompe fibroblasts with c.546G>T mutation. ► Both activation of ER stress and autophagy was observed in the patient fibroblasts. ► NB-DNJ led to attenuation of not only ER stress, but also autophagy in patient cells. ► Increased level of phosphorylated p38 MAPK in patient cells were decreased by NB-DNJ. ► Autophagy in patient cells was also negatively regulated by p38 inhibitor SB203580.