Article

Ric8 proteins as the neomorphic partners of Gαo in <i>GNAO1</i> encephalopathies

2023-03-27

Abstract excerpt

GNAO1 mutated in pediatric encephalopathies encodes the major neuronal G-protein Gαo. Of >40 pathogenic mutations, most are single amino acid substitutions spreading across Gαo sequence. We perform extensive characterization of Gαo mutants showing abnormal GTP uptake and hydrolysis, and deficiencies to bind Gβγ and RGS19. Plasma membrane localization of Gαo is decreased for a subset of mutations that leads to epil...

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Literature Corpus work: 7a914a5e-962a-5e45-98a1-84f04e75026d
DOI: 10.1101/2023.03.27.534359

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