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A <i>Drosophila</i> natural variation screen identifies NKCC1 as a substrate of NGLY1 deglycosylation and a modifier of NGLY1 deficiency

2020-04-14

Abstract excerpt

N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the NGLY1 gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears. To model the phenotypic variability observed among patients, we crossed a Drosophila model of NGLY1 deficiency onto a panel of genetically diverse strains. The resulting progeny showed a phenotyp...

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Literature Corpus work
4867a49b-af6a-56a5-8433-493dc4c46369
DOI
10.1101/2020.04.13.039651
Open publication

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A <i>Drosophila</i> natural variation screen identifies NKCC1 as a substrate of NGLY1 deglycosylation and a modifier of NGLY1 deficiencyDOI 10.1101/2020.04.13.039651
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