The hypermorphic PLCγ2 S707Y variant dysregulates microglial cell function: insight into PLCγ2 activation in brain health and disease, and opportunities for therapeutic modulation.
Daniel N. Bull, Julie C. Matte, Carmen M. Navarrón, Rebecca E. McIntyre, Paul John Whiting, Matilda Katan, Fiona Ducotterd, Lorenza Magno
This study investigates the effects of the PLCγ2 S707Y hypermorphic variant on human microglia, showing increased enzymatic activity but reduced phagocytosis and cytokine production, and suggests therapeutic strategies should mimic the beneficial effects of the P522R variant.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · Dec 5, 2023Peer-reviewedNeuroscience