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Article

Characterisation of molecular mechanisms for PLCγ2 disease-linked variants.

Advances in biological regulation - 1 Dec 2024

Bunney Tom D, Kampyli Charis, Gregory Ashley, Katan Matilda

Abstract excerpt

The phospholipase C enzyme PLCγ2 is best characterised in the context of immune cell regulation. Furthermore, many mutations discovered in PLCγ2 have been linked to the development of complex immune disorders as well as resistance to ibrutinib treatment in chronic lymphocytic leukaemia. Importantly, it has also been found that a rare variant of PLCγ2 (P522R) has a protective role in Alzheimer's disease (AD)....

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PMID: 39313402
DOI: 10.1016/j.jbior.2024.101053

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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