Published Papers

Cure Alzheimer’s Fund is proud to present a list of published papers that result from Cure Alzheimer’s Fund support.

Most of the papers grow out of the Alzheimer’s Genome Project™ (AGP), as that is where most of our investment has gone. The AGP has met its goal of identifying most of the remaining genes that affect risk or provide protection from Alzheimer’s disease in three years for about $3 million. Some 70 genes have been newly identified and now are available for follow up by Cure Alzheimer’s Fund-supported researchers and others.

The other papers represent innovative and in most cases collaborative investigations of more “translational” research–research enabled by the discovery of the first four genes that have been known to the field for some time. These papers point to ways for potentially faster development of therapies that affect the disease mechanism, not just the symptoms.

We thank all the researchers and lab personnel for their dedication and commitment to the common mission of ending this disease, and we congratulate all of them for the important work reflected in these papers. We also are grateful to all of those who literally made this work possible. Without those of you who have supported Cure Alzheimer’s Fund projects through your generosity, these papers and the momentum forward they represent would not exist.

2012

Kendall R. Walker, Eugene L. Kang, Michael J. Whalen, Yong Shen, and Giuseppina Tesco, Depletion of GGA1 and GGA3 Mediates Postinjury Elevation of BACE1, The Journal of Neuroscience, 32 (30), July 25, 2012, 10423–10437
Wagner SL, Tanzi RE, Mobley WC, Galasko D, Potential Use of γ-Secretase Modulators in the Treatment of Alzheimer Disease, Arch Neurol., July 16, 2012
Wu X, Lu Y, Dong Y, Zhang G, Zhang Y, Xu Z, Culley DJ, Crosby G, Marcantonio ER, Tanzi RE, Xie Z, The inhalation anesthetic isoflurane increases levels of proinflammatory TNF-α, IL-6, and IL-1β, Neurobiology of Aging, 33(7), July 2012, 1364-78
Miyazaki T, Takase K, Nakajima W, Tada H, Ohya D, Sano A, Goto T, Hirase H, Malinow R, Takahashi T, Disrupted cortical function underlies behavior dysfunction due to social isolation, J Clin Invest., 122(7), Jul 2, 2012, 2690-701
Wallace BC, Small K, Brodley CE, Lau J, Schmid CH, Bertram L, Lill CM, Cohen JT, Trikalinos TA, Toward modernizing the systematic review pipeline in genetics: efficient updating via data mining, Genet Med., 14(7), July 2012, 663-9
Xulun Zhang1, Krassimira Garbett2, Karthikeyan Veeraraghavalu, Brian Wilburn, Reid Gilmore, Karoly Mirnics, and Sangram S. Sisodia, A Role for Presenilins in Autophagy Revisited: Normal Acidification of Lysosomes in Cells Lacking PSEN1 and PSEN2, The Journal of Neuroscience, 32(25), June 20, 2012, 8633-8648
Zhang X, Hoey RJ, Lin G, Koide A, Leung B, Ahn K, Dolios G, Paduch M, Ikeuchi T, Wang R, Li YM, Koide S, Sisodia SS, Identification of a tetratricopeptide repeat-like domain in the nicastrin subunit of γ-secretase using synthetic antibodies, Proc Natl Acad Sci U S A, 109(22), May 29, 2012, 8534-9
Nussbaum, JM; Schilling, S; Cynis, H; Silva, A; Swanson, E; Wangsanut, T; Tayler, K; Wiltgen, B; Hatami, A; Ronicke, R; Reymann, K; Hutter-Paier, B; Alexandru, A; Jagla, W; Graubner, S; Glabe, CG; Demuth, HU; Bloom, GS, Prion-like behaviour and tau-dependent cytotoxicity of pyroglutamylated amyloid-β, Nature, 485, May 2, 2012, 651-655
B.V. Hooli, PhD, G. Mohapatra, PhD, M. Mattheisen, MD, A.R. Parrado, PhD, J.T. Roehr, MS, Y. Shen, PhD, J.F. Gusella, PhD, R. Moir, PhD, A.J. Saunders, PhD, C. Lange, PhD, R.E. Tanzi, PhD and L. Bertram, MD, Role of common and rare APP DNA sequence variants in Alzheimer disease, Neurology 78 , 78/16, April 17, 2012, 1250-1257
Wu-Zhang AX, Schramm CL, Nabavi S, Malinow R, Newton AC, Cellular pharmacology of protein kinase Mζ (PKMζ) contrasts with its in vitro profile: implications for PKMζ as a mediator of memory, J Biol Chem., 287(16), Apr 13, 2012, 12879-85
Bero AW, Bauer AQ, Stewart FR, White BR, Cirrito JR, Raichle ME, Culver JP, Holtzman DM, Bidirectional relationship between functional connectivity and amyloid-β deposition in mouse brain, J Neurosci., 32(13), Mar 28, 2012, 4334-40
Xie Z, Dong Y, Maeda U, Xia W, Tanzi RE, RNAi-mediated knock-down of Dab and Numb attenuate Aβ levels via γ-secretase mediated APP processing, Transl Neurodegener., 1:8, Mar 22, 2012
Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, DeStefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hill-Burns EM, Klein C, Latourelle JC, Maraganore DM, Martin ER, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Singleton AB, Stefansson K, Toda T, Tung JY, Vance J, Wood NW, Zabetian CP; 23andMe Genetic Epidemiology of Parkinson's Disease Consortium; International Parkinson's Disease Genomics Consortium; Parkinson's Disease GWAS Consortium; Wellcome Trust Case Control Consortium 2), Young P, Tanzi RE, Khoury MJ, Zipp F, Lehrach H, Ioannidis JP, Bertram L, Comprehensive research synopsis and systematic meta-analyses in Parkinson’s disease genetics: The PDGene database, PLoS Genet., 8(3), March 2012, e1002548
Yiying Zhang MD, MS1, Zhipeng Xu MD, PhD1, Hui Wang MD1,2, Yuanlin Dong MD, MS1, Hai Ning Shi PhD, DVM3, Deborah J. Culley MD4, Gregory Crosby MD4, Edward R. Marcantonio MD5, Rudolph E. Tanzi PhD.6, Zhongcong Xie MD, PhD1,*, Anesthetics Isoflurane and Desflurane Differently Affect Mitochondrial Function, Learning, and Memory, Annals of Neurology, Volume 71, Issue 5, February 24, 2012, 687–698
Lill CM, Schjeide BM, Akkad DA, Blaschke P, Winkelmann A, Gerdes LA, Hoffjan S, Luessi F, Dörner T, Li SC, Steinhagen-Thiessen E, Lindenberger U, Chan A, Hartung HP, Aktas O, Lohse P, Kümpfel T, Kubisch C, Epplen JT, Zettl UK, Bertram L, Zipp F, Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample, Neurogenetics, 13(1), February 2012, 83-6
Sungho Wona, Qing Luc, Lars Bertram, Rudolph E. Tanzi, Christoph Lange, On the Meta-Analysis of Genome-Wide Association Studies: A Robust and Efficient Approach to Combine Population and Family-Based Studies, Human Heredity , 73, January 18, 2012, 35-46
Yuanlin Dong, Xu Wu, Zhipeng Xu, Yiying Zhang, Zhongcong Xie, Anesthetic Isoflurane Increases Phosphorylated Tau Levels Mediated by Caspase Activation and Aβ Generation, PLoS One, 7(6), 2012
Lebedeva E, Stingl JC, Thal DR, Ghebremedhin E, Strauss J, Özer E, Bertram L, von Einem B, Tumani H, Otto M, Riepe MW, Högel J, Ludolph AC, von Arnim CA, Genetic variants in PSEN2 and correlation to CSF β-amyloid42 levels in AD, Neurobiol Aging, 33(1), January 2012, 201.e9-201.e18

2011

Bertram L, Hampel H, The role of genetics for biomarker development in neurodegeneration, Prog Neurobiol., 95(4), December 2011, 501-4
Lill CM, Bertram L, Towards unveiling the genetics of neurodegenerative diseases, Semin Neurol., 31(5), November 2011, 531-41
Prinz M, Priller J, Sisodia SS, Ransohoff RM, Heterogeneity of CNS myeloid cells and their roles in neurodegeneration, Nat Neurosci., 14(10), 2011 Sept 27, 1227-35
Haworth A, Bertram L, Carrera P, Elson JL, Braastad CD, Cox DW, Cruts M, den Dunnen JT, Farrer MJ, Fink JK, Hamed SA, Houlden H, Johnson DR, Nuytemans K, Palau F, Rayan DL, Robinson PN, Salas A, Schüle B, Sweeney MG, Woods MO, Amigo J, Cotton RG, Sobrido MJ, Call for participation in the neurogenetics consortium within the Human Variome Project, Neurogenetics, 12(3), August 2011, 169-73
Bertram, L, Alzheimer’s genetics in the GWAS era: a continuing story of ‘replications and refutations’, Curr Neurol Neurosci Rep., 11(3), June 2011, 246-53
Sarajärvi T, Tuusa JT, Haapasalo A, Lackman JJ, Sormunen R, Helisalmi S, Roehr JT, Parrado AR, Mäkinen P, Bertram L, Soininen H, Tanzi RE, Petäjä-Repo UE, Hiltunen M, Cysteine 27 Variant of the δ-Opioid Receptor Affects Amyloid Precursor Protein Processing through Altered Endocytic Trafficking, Mol Cell Biol., 31(11), June 2011, 2326–2340
A. Li, C. Zhou, J. Moore, P. Zhang, T.-H. Tsai, H.-C. Lee, D.M. Romano, M.L. McKee, D.A. Schoenfeld, M.J. Serra,3 K. Raygor, H.F. Cantiello, J.G. Fujimoto, and R.E. Tanzi, Changes in the Expression of the Alzheimer’s Disease- Associated Presenilin Gene in Drosophila Heart Leads to Cardiac Dysfunction, NIHPA Author Manuscripts , 8/3, May 1, 2011, 313-322
Thomas Pfeiffer, Lars Bertram, John P. A. Ioannidis, Quantifying Selective Reporting and the Proteus Phenomenon for Multiple Datasets with Similar Bias, Plos One, 6:3 , March 29, 2011
Viswanathan J, Haapasalo A, Bottcher C, Miettinen R, Kurkinen KMA, Lu A, Thomas A, Maynard CJ, Romano D, Hyman BT, Berezovska O, Nertram L, Soininen H, Dantuma NP, Tanzi RE, Hiltunen M, Alzheimer's Disease-Associated Ubiquilin-1 Regulates Presenilin-1 Accumulation and Aggresome Formation, Traffic, 12(3), Mar 12, 2011, 330-48
Jing L. Guo and Virginia M.-Y. Lee, Seeding of Normal Tau by Pathological Tau Conformers Drives Pathogenesis of Alzheimer-like Tangles, The Journal of Biological Chemistry, 286/17, March 3, 2011, 15317-15331
Brit-Maren M. Schjeide, BS; Cathrin Schnack, PhD; Jean-Charles Lambert, PhD; Christina M. Lill, MD; Julia Kirchheiner, MD, PhD; Hayrettin Tumani, MD; Markus Otto, MD; Rudolph E. Tanzi, PhD; Hans Lehrach, PhD; Philippe Amouyel, PhD; Christine A. F. von Arnim, MD; Lars Bertram, MD, The Role of Clusterin, Complement Receptor 1, and Phosphatidylinositol Binding Clathrin Assembly Protein in Alzheimer Disease Risk and Cerebrospinal Fluid Biomarker Levels, Arch Gen Psychiatry, 68(2), February 7, 2011, 207-213
Mannix RC, Zhang J, Park J, Zhang X, Bilal K, Walker K, Tanzi RE, Tesco G, Whalen MJ, Age-dependent effect of apolipoprotein E4 on functional outcome after controlled cortical impact in mice, Journal of Cerebral Blood Flow & Metabolism, 31, January 2011, 351–61

2010

Schwetye KE, Cirrito JR, Esparza TJ, Mac Donald CL, Holtzman DM, Brody DL, Traumatic brain injury reduces soluble extracellular amyloid-β in mice: A methodologically novel combined microdialysis-controlled cortical impact study, Neurobiology of Disease, Volume 40, Issue 3, Dec 2010, 555-564
Bertram L, Lill CM, Tanzi RE, The Genetics of Alzheimer Disease: Back to the Future, Neuron, 68(2), Oct 21, 2010, 270-81
Kwangwook Ahn, Christopher C. Shelton, Yuan Tian, Xulun Zhang, M. Lane Gilchrist, Sangram S. Sisodia, and Yue-Ming Li, Activation and Intrinsic γ-Secretase Activity of Presenilin 1, Proc. Natl. Acad. Sci USA, 50, Oct 15, 2010, 21435–21440
Lane RF, Raines SM, Steele JW, Ehrlich ME, Lah JA, Small SA, Tanzi RE, Attie AD, Gandy S, Diabetes-Associated SorCS1 Regulates Alzheimer's Amyloid-β Metabolism: Evidence for Involvement of SorL1 and the Retromer Complex, The Journal of Neuroscience, 30(39), Sep 29, 2010, 13110-13115
Zhang C, Browne A, Child D, Tanzi RE, Curcumin Decreases Amyloid-β Peptide Levels by Attenuating the Maturation of Amyloid-β Precursor Protein, The Journal of Biological Chemistry, 285(37), Sep 10, 2010, 28472-80
Hu WT, McMillan C, Libon D, Leight S, Forman M, Lee VM-Y, Trojanowski JQ, Grossman M, Multimodal predictors for Alzheimer disease in nonfluent primary progressive aphasia, Neurology, 75(7), Aug 17, 2010, 595-602
Kessels HW, Nguyen LN, Nabavi S, Malinow R, The prion protein as a receptor for beta-amyloid, Nature, 466(7308), Aug 12, 2010, E3-E5
Gandy S, Simon AJ, Steele JW, Lublin AL, Lah JJ, Walker LC, Levey AI, Krafft GA, Levy E, Checler F, Glabe C, Bilker WB, Abel T, Schmeidler J, Ehrlich ME, Days to criterion as an indicator of toxicity associated with human Alzheimer amyloid-β oligomers, Annals of Neurology, Volume 68, Issue 2, August 2010
Huttunen HJ, Hutter-Paier B, Barren C, Peach C, Havas D, Duller S, Xia W, Frosch MP, Windisch M, Kovacs DM., The acyl-coenzyme A: cholesterol acyltransferase inhibitor CI-1011 reverses diffuse brain amyloid pathology in aged amyloid precursor protein transgenic mice, Journal of Neuropathology and Experimental Neurology, 69(8), August 2010, 777-88
Dolan SM, Hollegaard MV, Merialdi M, Betran AP, Allen T, Abelow C, Nace J, Lin BK, Khoury MJ, Ioannidis JP, Bagade S, Zheng X, Dubin RA, Bertram L, Velez Edwards DR, Menon R, Synopsis of preterm birth genetic association studies: the preterm birth genetics knowledge base (PTBGene), Public Health Genomics, 13(7-8), May 20, 2010, 514-23
Moncaster JA, Pineda R, Moir RD, Lu S, Burton MA, Ghosh JG, Ericsson M, Soscia SJ, Mocofanescu A, Folkerth RD, Robb RM, Kuszak JR, Clark JI, Tanzi RE, Hunter DG, Goldstein LE, Alzheimer's Disease Amyloid-β Links Lens and Brain Pathology in Down Syndrome, PLoS ONE, 5(5), May 20, 2010
Gimbel DA, Nygaard HB, Coffey EE, Gunther EC, Lauren J, Gimbel ZA, Strittmatter SM, Memory Impairment in Transgenic Alzheimer Mice Requires Cellular Prion Protein, The Journal of Neuroscience, 30(18), May 5, 2010, 6367-6374
Kurup P, Zhang Y, Xu J, Venkitaramani DV, Haroutunian V, Greengard P, Nairn AC, Lombroso PJ, Aβ-Mediated NMDA Receptor Endocytosis in Alzheimer's Disease Involves Ubiquitination of the Tyrosine Phosphatase STEP, The Journal of Neuroscience, 30(17), Apr 28 2010, 5948-5957
Zhang C, Browne A, Child D, DiVito JR, Stevenson JA, Tanzi RE, Loss-of-Function of ATXN1 Increases Amyloid-Beta Levels by Potentiating Beta-Secretase Processing of APP, Journal of Biological Chemistry, 285(12), Mar 19, 2010, 8515-26
Kim SH, Fraser PE, Westaway D, George-Hyslop PH, Ehrlich ME, Gandy S, Group II Metabotropic Glutamate Receptor Stimulation Triggers Production and Release of Alzheimer's Amyloid β42 from Isolated Intact Nerve Terminals, The Journal of Neuroscience, 30(11), Mar 17, 2010, 3870-3875
Gianni D, Li A, Tesco G, McKay KM, Moore J, Raygor K, Rota M, Gwathmey JK, Dec GW, Aretz T, Leri A, Semigran MJ, Anversa P, Macgillivray TE, Tanzi RE, delMonte F., Protein Aggregates and Novel Presenilin Gene Variants in Idiopathic Dilated Cardiomyopathy, Circulation: Journal of the American Heart Association, 121(10), Mar 16, 2010, 1216-26
Zeng C, Pan F, Jones LA, Lim MM, Griffin EA, Sheline YI, Mintun MA, Holtzman DM, Mach RH, Evaluation of 5-ethynyl-2′-deoxyuridine staining as a sensitive and reliable method for studying cell proliferation in the adult nervous system, Brain Research, Volume 1319, Mar 10 2010, 21-32
Sleegers K, Lambert J-C, Bertram L, Cruts M, Amouyel P, Broeckhoven CV, The pursuit of susceptibility genes for Alzheimer's disease: progress and prospects, Trends in Genetics, Volume 26, Issue 2, February 2010, 84-93