NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
AO Caglayan, S Comu, JF Baranoski, Y Parman… - European journal of …, 2015 - Elsevier
Abstract N-glycanase 1 (NGLY1) is a conserved enzyme that is responsible for the
deglycosylation of misfolded N-glycosylated proteins in the cytoplasm prior to their
proteasome-mediated degradation. Disruption of this degradation process has been
associated with various neurologic diseases including amyotrophic lateral sclerosis and
Parkinson's disease. Here, we describe two siblings with neuromotor impairment, apparent
intellectual disability, corneal opacities, and neuropathy who were found to possess a novel …
deglycosylation of misfolded N-glycosylated proteins in the cytoplasm prior to their
proteasome-mediated degradation. Disruption of this degradation process has been
associated with various neurologic diseases including amyotrophic lateral sclerosis and
Parkinson's disease. Here, we describe two siblings with neuromotor impairment, apparent
intellectual disability, corneal opacities, and neuropathy who were found to possess a novel …