Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches

Abstract excerpt

Autosomal recessive loss-of-function mutations in N-glycanase 1 (NGLY1) cause NGLY1 deficiency, the only known human disease of deglycosylation. Patients present with developmental delay, movement disorder, seizures, liver dysfunction and alacrima. NGLY1 is a conserved cytoplasmic component of the Endoplasmic Reticulum Associated Degradation (ERAD) pathway. ERAD clears misfolded proteins from the ER lumen....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Autophagy in Disease and Therapy
• Share to Endoplasmic Reticulum Stress and Disease
• Share to Genetics and Neurodevelopmental Disorders