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Article

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

Glycobiology - 1 Aug 2015

He Ping, Grotzke Jeff E, Ng Bobby G, Gunel Murat, Jafar-Nejad Hamed, Cresswell Peter, Enns Gregory M, Freeze Hudson H

Abstract excerpt

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 (ab...

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Source

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Identifiers

PMID: 25900930
DOI: 10.1093/glycob/cwv024
PMCID: PMC4487302

Genes

NGLY1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25900930-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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