The Trem2 R47H Alzheimer's risk variant impairs splicing and reduces Trem2 mRNA and protein in mice but not in humans
摘要：
BackgroundThe 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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关键词：
Alzheimer’ s disease, Microglia, Neurodegeneration, TREM2, Pre-mRNA splicing, Human microglia
DOI：
10.1186/s13024-018-0280-6
年份：
2018
Springer
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BioMed Central
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ko.case.edu
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discovery.ucl.ac.uk
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ko.cwru.edu
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学术范
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ko2.cwru.edu
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knockout.cwru.edu
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