Cargando…
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...
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 |
Ejemplares similares
-
Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches
por: Iyer, Sangeetha, et al.
Publicado: (2019) -
Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation
por: Lao, Jessica P., et al.
Publicado: (2018) -
Gut barrier defects, intestinal immune hyperactivation and enhanced lipid catabolism drive lethality in NGLY1-deficient Drosophila
por: Pandey, Ashutosh, et al.
Publicado: (2023) -
A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency
por: Talsness, Dana M, et al.
Publicado: (2020) -
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
por: Stanclift, Caroline R., et al.
Publicado: (2022)