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Article

Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a Drosophila Model of NGLY1 Deficiency.

G3 (Bethesda, Md.) - 2 Jul 2018

Rodriguez Tamy Portillo, Mast Joshua D, Hartl Tom, Lee Tom, Sand Peter, Perlstein Ethan O

Abstract excerpt

N-glycanase 1 (NGLY1) Deficiency is a rare monogenic multi-system disorder first described in 2014. NGLY1 is evolutionarily conserved in model organisms. Here we conducted a natural history study and chemical-modifier screen on the Drosophila melanogaster NGLY1 homolog, Pngl We generated a new fly model of NGLY1 Deficiency, engineered with a nonsense mutation in Pngl at codon 420 that results in a truncation of...

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Source

Open in PubMed Open full text

Identifiers

PMID: 29735526
DOI: 10.1534/g3.118.300578
PMCID: PMC6027897

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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