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Article

AAV9-Mediated Intrastriatal Delivery of GNAO1 Reduces Hyperlocomotion in Gnao1 Heterozygous R209H Mutant Mice.

The Journal of pharmacology and experimental therapeutics - 18 Jul 2024

Roy Alex J, Leipprandt Jeffrey R, Patterson Joseph R, Stoll Anna C, Kemp Christopher J, Oula Zaipo-Tcheisian D, Mola Tyler, Batista Ana R, Sortwell Caryl E, Sena-Esteves Miguel, Neubig Richard R

Abstract excerpt

Mutations in the GNAO1 gene, which encodes the abundant brain G-protein Gα o, result in neurologic disorders characterized by developmental delay, epilepsy, and movement abnormalities. There are over 50 mutant alleles associated with GNAO1 disorders; the R209H mutation results in dystonia, choreoathetosis, and developmental delay without seizures. Mice heterozygous for the human mutant allele (Gnao1 +/R209H)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38866563
DOI: 10.1124/jpet.124.002117

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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