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...

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Detaylı Bibliyografya
Yayımlandı:Glycobiology
Asıl Yazarlar: He, Ping, Grotzke, Jeff E, Ng, Bobby G, Gunel, Murat, Jafar-Nejad, Hamed, Cresswell, Peter, Enns, Gregory M, Freeze, Hudson H
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2015
Konular:
ORIGINAL ARTICLES
Online Erişim: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
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