Article
A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency.
eLife - 14 Dec 2020
Talsness Dana M, Owings Katie G, Coelho Emily, Mercenne Gaelle, Pleinis John M, Partha Raghavendran, Hope Kevin A, Zuberi Aamir R, Clark Nathan L, Lutz Cathleen M, Rodan Aylin R, Chow Clement Y
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...
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