Article
The Trem2 R47H Alzheimer's risk variant impairs splicing and reduces Trem2 mRNA and protein in mice but not in humans.
Molecular neurodegeneration - 6 Sept 2018
Xiang Xianyuan, Piers Thomas M, Wefers Benedikt, Zhu Kaichuan, Mallach Anna, Brunner Bettina, Kleinberger Gernot, Song Wilbur, Colonna Marco, Herms Jochen, Wurst Wolfgang, Pocock Jennifer M, Haass Christian
Abstract excerpt
BACKGROUND: The R47H variant of the Triggering Receptor Expressed on Myeloid cells 2 (TREM2) significantly increases the risk for late onset Alzheimer's disease. Mouse models accurately reproducing phenotypes observed in Alzheimer' disease patients carrying the R47H coding variant are required to understand the TREM2 related dysfunctions responsible for the enhanced risk for late onset Alzheimer's disease....
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