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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Detalhes bibliográficos
Publicado no:eLife
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: eLife Sciences Publications, Ltd 2020
Assuntos:
Cell Biology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7758059/
https://ncbi.nlm.nih.gov/pubmed/33315011
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.57831
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