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The Alzheimer’s disease protective P522R variant of <i>PLCG2</i> , consistently enhances stimulus-dependent PLCγ2 activation, depleting substrate and altering cell function

2020-04-28

Abstract excerpt

Recent genome-wide association studies of Alzheimer’s disease (AD) have identified variants implicating immune pathways in disease development. A rare coding variant of PLCG2 , which encodes PLCγ2, shows a significant protective effect for AD (rs72824905, P522R, P =5.38×10 −10 , Odds Ratio = 0.68). Molecular dynamic modelling of the PLCγ2-R522 variant, situated within the auto-inhibitory domain of PLCγ2, sugges...

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Literature Corpus work
7e7b3f53-a35a-5278-837a-bde4594826de
DOI
10.1101/2020.04.27.059600
Open publication

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