A congenital disorder of deglycosylation: Biochemical characterization ofN-glycanase 1 deficiency in patient fibroblasts
Author:
Publisher
Oxford University Press (OUP)
Subject
Biochemistry
Link
http://academic.oup.com/glycob/article-pdf/25/8/836/7372249/cwv024.pdf
Reference24 articles.
1. The PUB Domain Functions as a p97 Binding Module in Human Peptide N-Glycanase
2. Processing of a Class I-Restricted Epitope from Tyrosinase Requires Peptide N-Glycanase and the Cooperative Action of Endoplasmic Reticulum Aminopeptidase 1 and Cytosolic Proteases
3. Sense from nonsense: therapies for premature stop codon diseases
4. A glycosylated type I membrane protein becomes cytosolic when peptide: N-glycanase is compromised
5. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
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1. Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature;European Journal of Medical Genetics;2024-02
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3. Shedding light on NGLY1 deficiency: a call for awareness and support;Journal of Rare Diseases;2023-11-09
4. Coupled deglycosylation-ubiquitination cascade in regulating PD-1 degradation by MDM2;Cell Reports;2023-07
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