Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult mice.

作者: Vaishnavi S. Jadhav , Peter B. C. Lin , Taylor Pennington , Gonzalo Viana Di Prisco , Asha Jacob Jannu

DOI: 10.1186/S13024-020-00409-0

关键词:

摘要: … To investigate if Trem2 Y38C or loss of Trem2 alters neuronal … the NHD Trem2 Y38C variant in murine Trem2 using CRISPR/Cas9 … that Trem2 Y38C disrupts normal TREM2 functions. …

参考文章(64)
Marion S Buckwalter, Tony Wyss-Coray, Modelling neuroinflammatory phenotypes in vivo. Journal of Neuroinflammation. ,vol. 1, pp. 10- 10 ,(2004) , 10.1186/1742-2094-1-10
Ji-Seon Park, In Jung Ji, Hyun Joo An, Min-Ji Kang, Sang-Wook Kang, Dong-Hou Kim, Seung-Yong Yoon, Disease-Associated Mutations of TREM2 Alter the Processing of N-Linked Oligosaccharides in the Golgi Apparatus Traffic. ,vol. 16, pp. 510- 518 ,(2015) , 10.1111/TRA.12264
Adam C Naj, Gyungah Jun, Gary W Beecham, Li-San Wang, Badri Narayan Vardarajan, Jacqueline Buros, Paul J Gallins, Joseph D Buxbaum, Gail P Jarvik, Paul K Crane, Eric B Larson, Thomas D Bird, Bradley F Boeve, Neill R Graff-Radford, Philip L De Jager, Denis Evans, Julie A Schneider, Minerva M Carrasquillo, Nilufer Ertekin-Taner, Steven G Younkin, Carlos Cruchaga, John S K Kauwe, Petra Nowotny, Patricia Kramer, John Hardy, Matthew J Huentelman, Amanda J Myers, Michael M Barmada, F Yesim Demirci, Clinton T Baldwin, Robert C Green, Ekaterina Rogaeva, Peter St George-Hyslop, Steven E Arnold, Robert Barber, Thomas Beach, Eileen H Bigio, James D Bowen, Adam Boxer, James R Burke, Nigel J Cairns, Chris S Carlson, Regina M Carney, Steven L Carroll, Helena C Chui, David G Clark, Jason Corneveaux, Carl W Cotman, Jeffrey L Cummings, Charles DeCarli, Steven T DeKosky, Ramon Diaz-Arrastia, Malcolm Dick, Dennis W Dickson, William G Ellis, Kelley M Faber, Kenneth B Fallon, Martin R Farlow, Steven Ferris, Matthew P Frosch, Douglas R Galasko, Mary Ganguli, Marla Gearing, Daniel H Geschwind, Bernardino Ghetti, John R Gilbert, Sid Gilman, Bruno Giordani, Jonathan D Glass, John H Growdon, Ronald L Hamilton, Lindy E Harrell, Elizabeth Head, Lawrence S Honig, Christine M Hulette, Bradley T Hyman, Gregory A Jicha, Lee-Way Jin, Nancy Johnson, Jason Karlawish, Anna Karydas, Jeffrey A Kaye, Ronald Kim, Edward H Koo, Neil W Kowall, James J Lah, Allan I Levey, Andrew P Lieberman, Oscar L Lopez, Wendy J Mack, Daniel C Marson, Frank Martiniuk, Deborah C Mash, Eliezer Masliah, Wayne C McCormick, Susan M McCurry, Andrew N McDavid, Ann C McKee, Marsel Mesulam, Bruce L Miller, Carol A Miller, Joshua W Miller, Joseph E Parisi, Daniel P Perl, Elaine Peskind, Ronald C Petersen, Wayne W Poon, Joseph F Quinn, Ruchita A Rajbhandary, Murray Raskind, Barry Reisberg, John M Ringman, Erik D Roberson, Roger N Rosenberg, Mary Sano, Lon S Schneider, William Seeley, Michael L Shelanski, Michael A Slifer, Charles D Smith, Joshua A Sonnen, Salvatore Spina, Robert A Stern, Rudolph E Tanzi, John Q Trojanowski, Juan C Troncoso, Vivianna M Van Deerlin, Harry V Vinters, Jean Paul Vonsattel, Sandra Weintraub, Kathleen A Welsh-Bohmer, Jennifer Williamson, Randall L Woltjer, Laura B Cantwell, Beth A Dombroski, Duane Beekly, Kathryn L Lunetta, Eden R Martin, M Ilyas Kamboh, Andrew J Saykin, Eric M Reiman, David A Bennett, John C Morris, Thomas J Montine, Alison M Goate, Deborah Blacker, Debby W Tsuang, Hakon Hakonarson, Walter A Kukull, Tatiana M Foroud, Jonathan L Haines, Richard Mayeux, Margaret A Pericak-Vance, Lindsay A Farrer, Gerard D Schellenberg, Common variants at MS4A4/MS4A6E , CD2AP , CD33 and EPHA1 are associated with late-onset Alzheimer's disease Nature Genetics. ,vol. 43, pp. 436- 443 ,(2011) , 10.1038/NG.801
Rita João Guerreiro, Ebba Lohmann, José Miguel Brás, Jesse Raphael Gibbs, Jonathan D. Rohrer, Nicole Gurunlian, Burcu Dursun, Basar Bilgic, Hasmet Hanagasi, Hakan Gurvit, Murat Emre, Andrew Singleton, John Hardy, Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurology. ,vol. 70, pp. 78- 84 ,(2012) , 10.1001/JAMANEUROL.2013.579
G. Kleinberger, Y. Yamanishi, M. Suarez-Calvet, E. Czirr, E. Lohmann, E. Cuyvers, H. Struyfs, N. Pettkus, A. Wenninger-Weinzierl, F. Mazaheri, S. Tahirovic, A. Lleo, D. Alcolea, J. Fortea, M. Willem, S. Lammich, J. L. Molinuevo, R. Sanchez-Valle, A. Antonell, A. Ramirez, M. T. Heneka, K. Sleegers, J. van der Zee, J.-J. Martin, S. Engelborghs, A. Demirtas-Tatlidede, H. Zetterberg, C. Van Broeckhoven, H. Gurvit, T. Wyss-Coray, J. Hardy, M. Colonna, C. Haass, TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis. Science Translational Medicine. ,vol. 6, ,(2014) , 10.1126/SCITRANSLMED.3009093
Celeste M. Karch, Alison M. Goate, Alzheimer’s Disease Risk Genes and Mechanisms of Disease Pathogenesis Biological Psychiatry. ,vol. 77, pp. 43- 51 ,(2015) , 10.1016/J.BIOPSYCH.2014.05.006
Bryna Erblich, Liyin Zhu, Anne M. Etgen, Kostantin Dobrenis, Jeffrey W. Pollard, Absence of Colony Stimulation Factor-1 Receptor Results in Loss of Microglia, Disrupted Brain Development and Olfactory Deficits PLoS ONE. ,vol. 6, pp. e26317- ,(2011) , 10.1371/JOURNAL.PONE.0026317
Juha Paloneva, Tuula Manninen, Grant Christman, Karine Hovanes, Jami Mandelin, Rolf Adolfsson, Marino Bianchin, Thomas Bird, Roxana Miranda, Andrea Salmaggi, Lisbeth Tranebjærg, Yrjö Konttinen, Leena Peltonen, Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype American Journal of Human Genetics. ,vol. 71, pp. 656- 662 ,(2002) , 10.1086/342259
M. Waseem Akhtar, Mi-Sung Kim, Megumi Adachi, Michael J. Morris, Xiaoxia Qi, James A. Richardson, Rhonda Bassel-Duby, Eric N. Olson, Ege T. Kavalali, Lisa M. Monteggia, In Vivo Analysis of MEF2 Transcription Factors in Synapse Regulation and Neuronal Survival PLoS ONE. ,vol. 7, pp. e34863- ,(2012) , 10.1371/JOURNAL.PONE.0034863
Ye Zhang, Kenian Chen, Steven A Sloan, Mariko L Bennett, Anja R Scholze, Sean O'Keeffe, Hemali P Phatnani, Paolo Guarnieri, Christine Caneda, Nadine Ruderisch, Shuyun Deng, Shane A Liddelow, Chaolin Zhang, Richard Daneman, Tom Maniatis, Ben A Barres, Jia Qian Wu, An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex The Journal of Neuroscience. ,vol. 34, pp. 11929- 11947 ,(2014) , 10.1523/JNEUROSCI.1860-14.2014