Increased Oxidative Stress and Autophagy in NGLY1 Patient iPSC-derived Neural Stem Cells

NGLY1 (N-glycanase) is a de-glycosylating enzyme that promotes clearance of misfolded glycan proteins. NGLY1 deficiency leads to a disease pathology with varied symptoms, including severe neurological defects. There are no therapeutic options currently available for the treatment of this rare disease. With the goal of finding potential therapeutic avenues, we performed comprehensive characterization of aberrant cellular stress pathways in a patient relevant model of NGLY1 deficiency.