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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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Detalles Bibliográficos
Autores principales: Rodriguez, Tamy Portillo, Mast, Joshua D., Hartl, Tom, Lee, Tom, Sand, Peter, Perlstein, Ethan O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Genetics Society of America 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6027897/
https://www.ncbi.nlm.nih.gov/pubmed/29735526
http://dx.doi.org/10.1534/g3.118.300578