Article
Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression.
Acta neuropathologica communications - 2 Sept 2016
Sirkis Daniel W, Bonham Luke W, Aparicio Renan E, Geier Ethan G, Ramos Eliana Marisa, Wang Qing, Karydas Anna, Miller Zachary A, Miller Bruce L, Coppola Giovanni, Yokoyama Jennifer S
Abstract excerpt
Rare variation in TREM2 has been associated with greater risk for Alzheimer's disease (AD). TREM2 encodes a cell surface receptor expressed on microglia and related cells, and the R47H variant associated with AD appears to affect the ability of TREM2 to bind extracellular ligands. In addition, other rare TREM2 mutations causing early-onset neurodegeneration are thought to impair cell surface expression. Using a...
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