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Article

Genetic modeling of GNAO1 disorder delineates mechanisms of Gαo dysfunction.

Human molecular genetics - 21 Feb 2022

Wang Dandan, Dao Maria, Muntean Brian S, Giles Andrew C, Martemyanov Kirill A, Grill Brock

Abstract excerpt

GNAO1 encephalopathy is a neurodevelopmental disorder with a spectrum of symptoms that include dystonic movements, seizures and developmental delay. While numerous GNAO1 mutations are associated with this disorder, the functional consequences of pathological variants are not completely understood. Here, we deployed the invertebrate C. elegans as a whole-animal behavioral model to study the functional effects of...

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Identifiers

PMID: 34508586
DOI: 10.1093/hmg/ddab235
PMCID: PMC8863422

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