Presentation description

NGLY1 deficiency is a rare genetic metabolic disorder with ~100 reported individuals. The disorder is the only known disorder of deglycosylation and causes an inability to deglycosylate a variety of proteins. Much about NGLY1 deficiency remains unknown. This study elucidates disease pathology of NGLY1 deficiency by examining the effects of loss of NGLY1 expression in specific neuron types and whether NGLY1 is a part of the Endoplasmic Reticulum-Associated Degradation (ERAD) pathway.