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Article

NGLY1 mutations cause protein aggregation in human neurons.

Cell reports - 26 Dec 2023

Manole Andreea, Wong Thomas, Rhee Amanda, Novak Sammy, Chin Shao-Ming, Tsimring Katya, Paucar Andres, Williams April, Newmeyer Traci Fang, Schafer Simon T, Rosh Idan, Kaushik Susmita, Hoffman Rene, Chen Songjie, Wang Guangwen, Snyder Michael, Cuervo Ana Maria, Andrade Leo, Manor Uri, Lee Kevin, Jones Jeffrey R, Stern Shani, Marchetto Maria C, Gage Fred H

Abstract excerpt

Biallelic mutations in the gene that encodes the enzyme N-glycanase 1 (NGLY1) cause a rare disease with multi-symptomatic features including developmental delay, intellectual disability, neuropathy, and seizures. NGLY1's activity in human neural cells is currently not well understood. To understand how NGLY1 gene loss leads to the specific phenotypes of NGLY1 deficiency, we employed direct conversion of NGLY1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38039131
DOI: 10.1016/j.celrep.2023.113466
PMCID: PMC10826878

Genes

NGLY1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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