Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.

Abstract excerpt

N-glycanase 1 (NGLY1) deficiency, an autosomal recessive disease caused by mutations in the NGLY1 gene, is characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, movement disorders and other neurological phenotypes. Because of few animal models that recapitulate these clinical signatures, the mechanisms of the onset of the disease and its progression are poorly...

Topics

Join the communities discussing this publication.

• Central Nervous System
• Congenital Disorders of Glycosylation
• Endoplasmic Reticulum-Associated Degradation
• Eye Diseases, Hereditary
• Gene Knockout Techniques