An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency

NGLY1 deficiency, a rare disease with no effective treatment, is caused by autosomal recessive, loss-of-function mutations in the N-glycanase 1 (NGLY1) gene and is characterized by global developmental delay, hypotonia, alacrima, and seizures. We used a Drosophila model of NGLY1 deficiency to conduc...

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Detalles Bibliográficos
Autores principales: Hope, Kevin A., Berman, Alexys R., Peterson, Randall T., Chow, Clement Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9162339/
https://www.ncbi.nlm.nih.gov/pubmed/35653343
http://dx.doi.org/10.1371/journal.pgen.1010228

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9162339/
https://www.ncbi.nlm.nih.gov/pubmed/35653343
http://dx.doi.org/10.1371/journal.pgen.1010228

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