Article
TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease.
Molecular neurodegeneration - 21 Jun 2013
Rayaprolu Sruti, Mullen Bianca, Baker Matt, Lynch Timothy, Finger Elizabeth, Seeley William W, Hatanpaa Kimmo J, Lomen-Hoerth Catherine, Kertesz Andrew, Bigio Eileen H, Lippa Carol, Josephs Keith A, Knopman David S, White Charles L, Caselli Richard, Mackenzie Ian R, Miller Bruce L, Boczarska-Jedynak Magdalena, Opala Grzegorz, Krygowska-Wajs Anna, Barcikowska Maria, Younkin Steven G, Petersen Ronald C, Ertekin-Taner Nilüfer, Uitti Ryan J, Meschia James F, Boylan Kevin B, Boeve Bradley F, Graff-Radford Neill R, Wszolek Zbigniew K, Dickson Dennis W, Rademakers Rosa, Ross Owen A
Abstract excerpt
BACKGROUND: A rare variant in the Triggering Receptor Expressed on Myeloid cells 2 (TREM2) gene has been reported to be a genetic risk factor for Alzheimer's disease by two independent groups (Odds ratio between 2.9-4.5). Given the key role of TREM2 in the effective phagocytosis of apoptotic neuronal cells by microglia, we hypothesized that dysfunction of TREM2 may play a more generalized role in...
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