The Alzheimer's disease protective P522R variant of PLCG2, consistently enhances stimulus-dependent PLCγ2 activation, depleting substrate and altering cell function.
Emily Maguire, Georgina Elizabeth Menzies, Tom J. Phillips, Michael Sasner, Harriet M. Williams, Magdalena A. Czubala, Neil Evans, Emma L. Cope, Rebecca Sims, Gareth R. Howell, Emyr Lloyd‐Evans, Julie H. Williams, Nicholas D. Allen, Philip R. Taylor
This paper identifies a protective PLCG2 variant in Alzheimer's disease, showing enhanced PLCγ2 activation and functional changes in immune cells.
bioRxiv · Apr 27, 2020 · PreprintNeuroscience