Rarity of the Alzheimer disease-protective APP A673T variant in the United States

作者: Li-San Wang , Adam C Naj , Robert R Graham , Paul K Crane , Brian W Kunkle

DOI: 10.1001/JAMANEUROL.2014.2157

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摘要: Importance Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at …

参考文章(28)
Julien Delrieu, Pierre Jean Ousset, Céline Caillaud, Bruno Vellas, ‘Clinical trials in Alzheimer’s disease’: immunotherapy approaches Journal of Neurochemistry. ,vol. 120, pp. 186- 193 ,(2012) , 10.1111/J.1471-4159.2011.07458.X
Arun K. Ghosh, Margherita Brindisi, Jordan Tang, Developing β-secretase inhibitors for treatment of Alzheimer’s disease Journal of Neurochemistry. ,vol. 120, pp. 71- 83 ,(2012) , 10.1111/J.1471-4159.2011.07476.X
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
Gerard D. Schellenberg, Thomas J. Montine, The genetics and neuropathology of Alzheimer’s disease Acta Neuropathologica. ,vol. 124, pp. 305- 323 ,(2012) , 10.1007/S00401-012-0996-2
Mia Kero, Anders Paetau, Tuomo Polvikoski, Maarit Tanskanen, Raimo Sulkava, Lilja Jansson, Liisa Myllykangas, Pentti J. Tienari, Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population Neurobiology of Aging. ,vol. 34, pp. 1518.e1- 1518.e3 ,(2013) , 10.1016/J.NEUROBIOLAGING.2012.09.017
D. Blacker, J. L. Haines, L. Rodes, H. Terwedow, R.C.P. Go, L. E. Harrell, R. T. Perry, S. S. Bassett, G. Chase, D. Meyers, M. S. Albert, R. Tanzi, ApoE-4 and Age at Onset of Alzheimer's Disease The NIMH Genetics Initiative Neurology. ,vol. 48, pp. 139- 147 ,(1997) , 10.1212/WNL.48.1.139
Corinne L Lendon, Alonso Martinez, Isabel Maria Behrens, Kenneth S Kosik, Lucia Madrigal, Joanne Norton, Rosalind Neuman, Amanda Myers, Frances Busfield, Michelle Wragg, Mauricio Arcos, Juan Carlos Arango Viana, Jorge Ossa, Andres Ruiz, Alison M Goate, Francisco Lopera, None, E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles Human Mutation. ,vol. 10, pp. 186- 195 ,(1997) , 10.1002/(SICI)1098-1004(1997)10:3<186::AID-HUMU2>3.0.CO;2-H
Luca Giliberto, Roberta Borghi, Alessandra Piccini, Rosa Mangerini, Sandro Sorbi, Gabriella Cirmena, Anna Garuti, Bernardino Ghetti, Fabrizio Tagliavini, Mohamed R. Mughal, Mark P. Mattson, Xiongwei Zhu, Xinglong Wang, Michela Guglielmotto, Elena Tamagno, Massimo Tabaton, Mutant Presenilin 1 Increases the Expression and Activity of BACE1 Journal of Biological Chemistry. ,vol. 284, pp. 9027- 9038 ,(2009) , 10.1074/JBC.M805685200
Yadong Huang, Lennart Mucke, Alzheimer mechanisms and therapeutic strategies. Cell. ,vol. 148, pp. 1204- 1222 ,(2012) , 10.1016/J.CELL.2012.02.040
Carlos Cruchaga, Sumitra Chakraverty, Kevin Mayo, Francesco LM Vallania, Robi D Mitra, Kelley Faber, Jennifer Williamson, Tom Bird, Ramon Diaz-Arrastia, Tatiana M Foroud, Bradley F Boeve, Neill R Graff-Radford, Pamela St. Jean, Michael Lawson, Margaret G Ehm, Richard Mayeux, Alison M Goate, NIA-LOAD/NCRAD Family Study Consortium, None, Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families PLoS ONE. ,vol. 7, pp. e31039- ,(2012) , 10.1371/JOURNAL.PONE.0031039