A conserved role for AMP-activated protein kinase in NGLY1 deficiency

Abstract excerpt

Mutations in human N-glycanase 1 (NGLY1) cause the first known congenital disorder of deglycosylation (CDDG). Patients with this rare disease, which is also known as NGLY1 deficiency, exhibit global developmental delay and other phenotypes including neuropathy, movement disorder, and constipation. NGLY1 is known to regulate proteasomal and mitophagy gene expression through activation of a transcription factor...

Topics

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

• Share to Calcium signaling and nucleotide metabolism
• Share to Genetics and Neurodevelopmental Disorders
• Share to Pancreatic function and diabetes