NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology

N-Glycanase 1 (NGLY1) is a cytosolic enzyme involved in removing N-linked glycans of misfolded N-glycoproteins and is considered to be a component of endoplasmic reticulum-associated degradation (ERAD). The 2012 identification of recessive NGLY1 mutations in a rare multisystem disorder has led to in...

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Detalles Bibliográficos
Autores principales: Pandey, Ashutosh, Adams, Joshua M., Han, Seung Yeop, Jafar-Nejad, Hamed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8997433/
https://www.ncbi.nlm.nih.gov/pubmed/35406718
http://dx.doi.org/10.3390/cells11071155

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8997433/
https://www.ncbi.nlm.nih.gov/pubmed/35406718
http://dx.doi.org/10.3390/cells11071155

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