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

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Title: Loss-of-function Gαs rare disease variants exert mutation-specific effects on GPCR signaling.
Authors: Redfern-Nichols T; Department of Pharmacology, University of Cambridge, Tennis Court Road, Cambridge CB2 1PD, UK., O'Brien SL; Department of Metabolism and Systems Science, College of Medicine and Health, University of Birmingham, Birmingham B15 2TT, UK.; Centre of Membrane Proteins and Receptors (COMPARE), Universities of Nottingham and Birmingham, Birmingham B15 2TT, UK., Huang X; Department of Pharmacology, University of Cambridge, Tennis Court Road, Cambridge CB2 1PD, UK., Medel-Lacruz B; Research Programme on Biomedical Informatics, Hospital del Mar Medical Research Institute, Department of Experimental and Health Sciences, Pompeu Fabra University, Barcelona, 08003, Spain., Calebiro D; Department of Metabolism and Systems Science, College of Medicine and Health, University of Birmingham, Birmingham B15 2TT, UK.; Centre of Membrane Proteins and Receptors (COMPARE), Universities of Nottingham and Birmingham, Birmingham B15 2TT, UK., Selent J; Research Programme on Biomedical Informatics, Hospital del Mar Medical Research Institute, Department of Experimental and Health Sciences, Pompeu Fabra University, Barcelona, 08003, Spain., Ladds G; Department of Pharmacology, University of Cambridge, Tennis Court Road, Cambridge CB2 1PD, UK., Marti-Solano M; Department of Pharmacology, University of Cambridge, Tennis Court Road, Cambridge CB2 1PD, UK.
Source: Science signaling [Sci Signal] 2025 May 20; Vol. 18 (887), pp. eado7543. Date of Electronic Publication: 2025 May 20.
Publication Type: Journal Article
Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101465400 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1937-9145 (Electronic) Linking ISSN: 19450877 NLM ISO Abbreviation: Sci Signal Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1937-9145
DOI:10.1126/scisignal.ado7543