A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts

N-Glycanase 1, encoded by NGLY1, catalyzes the deglycosylation of misfolded N-linked glycoproteins retrotranslocated into the cytosol. We identified nine cases with mutations in NGLY1. The patients show developmental delay, seizures, peripheral neuropathy, abnormal liver function and alacrima (absen...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Glycobiology
Main Authors: He, Ping, Grotzke, Jeff E, Ng, Bobby G, Gunel, Murat, Jafar-Nejad, Hamed, Cresswell, Peter, Enns, Gregory M, Freeze, Hudson H
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2015
Fag:
ORIGINAL ARTICLES
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4487302/
https://ncbi.nlm.nih.gov/pubmed/25900930
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/glycob/cwv024
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker