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

ABSTRACT:

Background

G-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-proteins trimer (Gαβγ). GNB1E manifests as a global developmental delay, accompanied by tonus disturbances, ataxia, and epilepsy.

Methods

We utilized the Xenopus laevis oocyte heterologous expression system to investigate the impact of the L95P mutation in Gβ₁ (Gβ₁-L95P) on the activation of neuronal GIRK channels GIRK2 and GIRK1/2. Mutant and wild-type (WT) Gβ₁ RNAs were co-injected with RNAs encoding the Gγ₂ and G

SUBMITTER: Reddy HP 

PROVIDER: S-EPMC12098346 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature