Article

The hypermorphic PLCγ2 S707Y variant dysregulates microglial cell function – insight into PLCγ2 activation in brain health and disease, and opportunities for therapeutic modulation

2023-11-02

Abstract excerpt

Phospholipase C-gamma 2 (PLCγ2) is highly expressed in hematopoietic and immune cells, where it is a key signalling node enabling diverse cellular functions. Within the periphery, gain-of-function (GOF) PLCγ2 variants, such as the strongly hypermorphic S707Y, cause severe immune dysregulation. The milder hypermorphic mutation PLCγ2 P522R increases longevity and confers protection in central nervous system (CNS) ne...

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Literature Corpus work: e438a9c0-097a-5f61-84dd-4a482a2d62ac
DOI: 10.1101/2023.10.30.564579

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