Mechanisms of increased Alzheimer's disease pathology with R47H and R62H TREM2 variants.

doi:10.1007/s00401-026-03036-z

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Mechanisms of increased Alzheimer's disease pathology with R47H and R62H TREM2 variants.

Acta neuropathologica - 15 Jun 2026

Fancy Nurun N, Willumsen Nanet, Chau Vicky M N, Boulger Samuel L, Whitwell Harry J, Wang Wenhao, Avot Baptiste, Thomas Michael, Talbot-Martin Jonathan, Tsartsalis Stergios, Khozoie Combiz, McGarry Aisling, Schneegans Eleonore, Yagoubi Riad, Cheung To Ka Dorcas, Papageorgopoulou Marianna, Adair Emily, Cooper Benjamin, Davey Karen, Smith Amy M, Scotton William, Hardy John, Matthews Paul M, Jackson Johanna S

Abstract excerpt

TREM2 plays multiple functional roles in microglia and variants are associated with increased risks of Alzheimer's disease (AD). Genetic polymorphisms reducing expression of the functionally related protein CD33 are protective. Here we have contrasted cellular pathology in human post-mortem brain with and without AD to test mechanisms associated with the differential genetic risks conferred by R47H and R62H TREM2...

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Identifiers

PMID: 42298074
DOI: 10.1007/s00401-026-03036-z
PMCID: PMC13269326

Genes

CD33
TREM2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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