A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency

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 Drosop...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2020
Materias:
Cell Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7758059/
https://www.ncbi.nlm.nih.gov/pubmed/33315011
http://dx.doi.org/10.7554/eLife.57831

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