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Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a Drosophila Model of NGLY1 Deficiency

N-glycanase 1 (NGLY1) Deficiency is a rare monogenic multi-system disorder first described in 2014. NGLY1 is evolutionarily conserved in model organisms. Here we conducted a natural history study and chemical-modifier screen on the Drosophila melanogaster NGLY1 homolog, Pngl. We generated a new fly...

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Publicat a:G3 (Bethesda)
Autors principals: Rodriguez, Tamy Portillo, Mast, Joshua D., Hartl, Tom, Lee, Tom, Sand, Peter, Perlstein, Ethan O.
Format: Artigo
Idioma:Inglês
Publicat: Genetics Society of America 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6027897/
https://ncbi.nlm.nih.gov/pubmed/29735526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/g3.118.300578
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