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Functional classification of <i>GNAI1</i> disorder variants in <i>C. elegans</i> uncovers conserved and cell-specific mechanisms of dysfunction

2025-08-22

Abstract excerpt

<h4>ABSTRACT</h4> Heterotrimeric G proteins transduce signals from G protein coupled receptors, which mediate key aspects of neuronal development and function. Mutations in the GNAI1 gene, which encodes Gαi1, cause a disorder characterized by developmental delay, intellectual disability, hypotonia, and epilepsy. However, the mechanistic basis for this disorder remains unknown. Here, we show that GNAI1 is requir...

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Literature Corpus work
a31f8858-8574-572b-be34-06929a744dab
DOI
10.1101/2025.08.18.670960
Open publication

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Functional classification of <i>GNAI1</i> disorder variants in <i>C. elegans</i> uncovers conserved and cell-specific mechanisms of dysfunctionDOI 10.1101/2025.08.18.670960
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