Loss of expression and function of Gβγ by GNB1 encephalopathy-associated L95P mutation of the Gβ1 subunit

BackgroundG-proteins areindispensable regulators of cellular signaling, with G-protein-gated inwardly rectifying potassium channels (GIRK) as key effectors. GNB1 encephalopathy (GNB1E) is a congenital neurological syndrome resulting from mutations in the GNB1 gene, encoding the Gβ1 subunit of G-prot...

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Main Authors: Haritha P. Reddy, Tal Keren-Raifman, Galit Tabak, Nathan Dascal, Daniel Yakubovich
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Pharmacology
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Online Access:https://www.frontiersin.org/articles/10.3389/fphar.2025.1592012/full
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