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Article

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

Genes - 26 Jan 2023

Di Rocco Martina, Galosi Serena, Follo Francesca C, Lanza Enrico, Folli Viola, Martire Alberto, Leuzzi Vincenzo, Martinelli Simone

Abstract excerpt

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 associated with GNAO1 defects and identifying new therapies. In this study, we generated two additional gene-edited...

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Identifiers

PMID: 36833246
DOI: 10.3390/genes14020319
PMCID: PMC9957173

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