The Trem2 R47H Alzheimer's risk variant impairs splicing and reduces Trem2 mRNA and protein in mice but not in humans.

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第一作者： Xianyuan,Xiang

第一单位： Metabolic Biochemistry, Biomedical Center (BMC), Faculty of Medicine, Ludwig-Maximilians-Universität München, Munich, Germany.;Graduate School of Systemic Neuroscience, Ludwig- Maximilians- University Munich, Munich, Germany.

作者： Xianyuan,Xiang ^[1] ; Thomas M,Piers ^[2] ; Benedikt,Wefers ^[3] ; Kaichuan,Zhu ^[4] ; Anna,Mallach ^[2] ; Bettina,Brunner ^[5] ; Gernot,Kleinberger ^[6] ; Wilbur,Song ^[7] ; Marco,Colonna ^[7] ; Jochen,Herms ^[8] ; Wolfgang,Wurst ^[9] ; Jennifer M,Pocock ^[2] ; Christian,Haass ^[10]

作者单位： Metabolic Biochemistry, Biomedical Center (BMC), Faculty of Medicine, Ludwig-Maximilians-Universität München, Munich, Germany.;Graduate School of Systemic Neuroscience, Ludwig- Maximilians- University Munich, Munich, Germany. ^[1] Department of Neuroinflammation, Cell Signalling Lab, University College London Institute of Neurology, WC1N 1PJ, London, UK. ^[2] German Center for Neurodegenerative Diseases (DZNE) Munich, Munich, Germany.;Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany. ^[3] German Center for Neurodegenerative Diseases (DZNE) Munich, Munich, Germany.;Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. ^[4] German Center for Neurodegenerative Diseases (DZNE) Munich, Munich, Germany. ^[5] Metabolic Biochemistry, Biomedical Center (BMC), Faculty of Medicine, Ludwig-Maximilians-Universität München, Munich, Germany.;Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. ^[6] Department of Immunology and Pathology, Washington University in St. Louis, St. Louis, MO, USA. ^[7] German Center for Neurodegenerative Diseases (DZNE) Munich, Munich, Germany.;Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.;Center for Neuropathology and Prion Research, Ludwig-Maximilians-Universität München, Munich, Germany. ^[8] German Center for Neurodegenerative Diseases (DZNE) Munich, Munich, Germany.;Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.;Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.;Technische Universität München-Weihenstephan, 85764, Neuherberg/Munich, Germany. ^[9] Metabolic Biochemistry, Biomedical Center (BMC), Faculty of Medicine, Ludwig-Maximilians-Universität München, Munich, Germany. christian.haass@mail03.med.uni-muenchen.de.;German Center for Neurodegenerative Diseases (DZNE) Munich, Munich, Germany. christian.haass@mail03.med.uni-muenchen.de.;Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. christian.haass@mail03.med.uni-muenchen.de. ^[10]

关键词 Alzheimer’s disease Human microglia Microglia Neurodegeneration Pre-mRNA splicing TREM2