June 1, 2018Open Access

The Trem2 R47H variant confers loss-of-function-like phenotypes in Alzheimer’s disease

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Abstract

These data suggest that the AD-associated TREM2 R47H variant increases risk for AD by conferring a loss of TREM2 function and enhancing neuritic dystrophy around plaques.

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Cheng-Hathaway et al. (Fri,) studied this question.

synapsesocial.com/papers/69d9681f5e5bcb4e3b836348 https://doi.org/https://doi.org/10.1186/s13024-018-0262-8

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5Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms2016 · 279 citations

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