2022
DOI: 10.3389/fcell.2022.999061
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Abstract: Alzheimer’s disease (AD) is an irreversible neurodegenerative disease mainly characterized by memory loss and cognitive decline. The etiology of AD is complex and remains incompletely understood. In recent years, genome-wide association studies (GWAS) have increasingly highlighted the central role of microglia in AD pathology. As a trans-membrane receptor specifically present on the microglia in the central nervous system, phosphatidylinositol-specific phospholipase C gamma 2 (PLCγ2) plays an important role in… Show more

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Cited by 3 publications
(2 citation statements)
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“…Activating mutations of PLCγ2 arise in patients with chronic lymphocytic leukemia (CLL) resistant to the BTK inhibitor ibrutinib 10,11 . Genome-wide association studies also identified a rare variant of PLCγ2 (P522R) associated with reduced risk of Alzheimer's disease, as well as other dementias including dementia with Lewy bodies and frontotemporal dementia [12][13][14][15][16][17][18][19][20] . Longitudinal analysis also suggested MCI (mild cognitive impairment) patients carrying the P522R variant shows a lower rate of cognitive decline in comparison with non-carriers 21 .…”
Section: Introductionmentioning
confidence: 99%
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“…Activating mutations of PLCγ2 arise in patients with chronic lymphocytic leukemia (CLL) resistant to the BTK inhibitor ibrutinib 10,11 . Genome-wide association studies also identified a rare variant of PLCγ2 (P522R) associated with reduced risk of Alzheimer's disease, as well as other dementias including dementia with Lewy bodies and frontotemporal dementia [12][13][14][15][16][17][18][19][20] . Longitudinal analysis also suggested MCI (mild cognitive impairment) patients carrying the P522R variant shows a lower rate of cognitive decline in comparison with non-carriers 21 .…”
Section: Introductionmentioning
confidence: 99%
“…Activity studies indicated that this variant modestly increases the enzymatic function of PLCγ2 [22][23][24] . Recent studies also suggest that a different missense variant of PLCγ2 (M28L) is associated with loss-of-function and an elevated risk for Alzheimer's disease 18,[25][26][27] .…”
Section: Introductionmentioning
confidence: 99%