Article

Defects in the neuroendocrine axis cause global development delay in a <i>Drosophila</i> model of NGLY1 Deficiency

2018-01-01

Abstract excerpt

<h4>ABSTRACT</h4> N-glycanase 1 (NGLY1) Deficiency is a rare monogenic multi-system disorder first described in 2014. NGLY1 is evolutionarily conserved in model organisms, including the Drosophila melanogaster NGLY1 homolog, Pngl . Here we conducted a natural history study and chemical-modifier screen on a new fly model of NGLY1 Deficiency engineered with a nonsense mutation in Pngl at codon 420, resulting in...

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Literature Corpus work: 27b942d5-ebf7-5fa3-97ef-5198aae9a2fb
DOI: 10.1101/241653

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