Article

Visualizing the Dominant GPCR Coupling of Pathogenic Gαo Mutants in <i>GNAO1</i> -Related Disorders

2025-06-22

Abstract excerpt

Heterozygous mutations in the GNAO1 gene, which encodes the Gαo subunit of heterotrimeric G proteins, cause a spectrum of rare neurodevelopmental disorders ranging from early-onset epileptic encephalopathy to milder dystonia phenotypes. Disease dominance of Gαo mutants appears to arise from multiple functional disruptions, including impaired guanine nucleotide handling, failure to adopt the active conformation, a...

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Literature Corpus work: 2173acc3-4c14-5d82-90ea-359e6b097a19
DOI: 10.1101/2025.06.19.660437

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