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• W4387341533 abstract "Mosaic variants in genes GNAQ or GNA11 lead to a spectrum of vascular and pigmentary diseases including Sturge-Weber syndrome, in which progressive post-natal neurological deterioration led us to seek biologically-targeted therapeutics. Using two cellular models we find here that disease-causing GNAQ/11 variants hyperactivate constitutive and GPCR ligand-induced intracellular calcium signalling in endothelial cells. We go on to show that the aberrant ligand-activated intracellular calcium signal is fuelled by extracellular calcium influx through CRAC channels. Treatment with targeted siRNAs designed to silence the variant allele preferentially corrects both the constitutive and ligand-activated calcium signalling, whilst treatment with a CRAC channel inhibitor rescues the ligand-activated signal. This work identifies hyperactivated calcium signalling as the primary abnormality in GNAQ/11 mosaicism, and paves the way for clinical trials with genetic or small molecule therapies." @default.
• W4387341533 created "2023-10-05" @default.
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• W4387341533 date "2023-10-01" @default.
• W4387341533 modified "2023-10-08" @default.
• W4387341533 title "GNAQ/GNA11 mosaicism causes aberrant calcium signalling susceptible to targeted therapeutics" @default.
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• W4387341533 doi "https://doi.org/10.1016/j.jid.2023.08.028" @default.
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