Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease

De novo mutations affecting the G protein α o subunit (Gαo)-encoding gene (GNAO1) cause childhood-onset developmental delay, hyperkinetic movement disorders, and epilepsy. Recently, we established Caenorhabditis elegans as an informative experimental model for deciphering pathogenic mechanisms assoc...

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Detalles Bibliográficos
Autores principales: Di Rocco, Martina, Galosi, Serena, Follo, Francesca C., Lanza, Enrico, Folli, Viola, Martire, Alberto, Leuzzi, Vincenzo, Martinelli, Simone
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957173/
https://www.ncbi.nlm.nih.gov/pubmed/36833246
http://dx.doi.org/10.3390/genes14020319

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957173/
https://www.ncbi.nlm.nih.gov/pubmed/36833246
http://dx.doi.org/10.3390/genes14020319

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