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Article

Loss-of-function Gαs rare disease variants exert mutation-specific effects on GPCR signaling.

Science signaling - 20 May 2025

Redfern-Nichols Theo, O'Brien Shannon L, Huang Xianglin, Medel-Lacruz Brian, Calebiro Davide, Selent Jana, Ladds Graham, Marti-Solano Maria

Abstract excerpt

G protein-coupled receptors (GPCRs) are transmembrane detectors of extracellular signals that activate heterotrimeric G proteins to regulate intracellular responses. Because there are only 16 Gα proteins that can couple to GPCRs, variation in a single Gα can affect the function of numerous receptors. Here, we investigated two mutant forms of Gαs (L388R and E392K) that are associated with pseudohypoparathyroidism...

Read the complete abstract on PubMed

Topics

Humans
GTP-Binding Protein alpha Subunits, Gs
Signal Transduction
HEK293 Cells
Receptor, Parathyroid Hormone, Type 1

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Receptors, G-Protein-Coupled

Pseudohypoparathyroidism

Loss of Function Mutation

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 40392940
DOI: 10.1126/scisignal.ado7543
PMCID: PMC7617749

Genes

PTH1R

Provenance

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