Sugar coating autophagy: exploring the links between the inhibition of NGLY1 (N-glycanase 1) and autophagy induction
| Autor: | Holger B. R. Kramer, Sarah Ann Allman |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Autophagy Reports, Vol 2, Iss 1 (2023) |
| Druh dokumentu: | article |
| ISSN: | 2769-4127 27694127 |
| DOI: | 10.1080/27694127.2023.2166324 |
| Popis: | The cytosolic enzyme NGLY1 (N-glycanase 1) is a central mediator of glycoprotein catabolism. The enzyme acts to cleave N-linked glycans from modified substrate asparagine residues prior to degradation of misfolded proteins by the proteasome, playing a key and well-conserved role in the ER-associated degradation/ERAD pathway. In a clinical context, NGLY1 disorder represents a rare congenital disorder of deglycosylation where mutations in the NGLY1 gene result in the loss of enzyme function. Patients with NGLY1 disorder present with a broad and varied array of symptoms, which can include moderate to profound levels of developmental delay, seizures, and complex movement disorders, as well as alacrima. Our recent results highlight a causal link between NGLY1 inhibition and macroautophagy/autophagy induction. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|