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Article

Systemic gene therapy corrects the neurological phenotype in a mouse model of NGLY1 deficiency.

JCI insight - 8 Oct 2024

Du Ailing, Yang Kun, Zhou Xuntao, Ren Lingzhi, Liu Nan, Zhou Chen, Liang Jialing, Yan Nan, Gao Guangping, Wang Dan

Abstract excerpt

The cytoplasmic peptide:N-glycanase (NGLY1) is ubiquitously expressed and functions as a de-N-glycosylating enzyme that degrades misfolded N-glycosylated proteins. NGLY1 deficiency due to biallelic loss-of-function NGLY1 variants is an ultrarare autosomal recessive deglycosylation disorder with multisystemic involvement; the neurological manifestations represent the main disease burden. Currently, there is no...

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Identifiers

PMID: 39137042
DOI: 10.1172/jci.insight.183189
PMCID: PMC11466192

Genes

NGLY1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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