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Molecular annotation of G protein variants in a neurological disorder
Highlights • Mutations in G proteins are linked to epilepsy and movement disorders • Many occur in regions that have no obvious role in G protein function • Mutations have distinct effects on signaling, catalysis, protein stability, and interactions • At least four mechanistically distinct groups will likely require distinct treatments Summary Heterotrimeric G proteins transduce extracellular chemical messages to generate appropriate intracellular responses.
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