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Items: 1 to 20 of 38

1.
Resistance to autosomal dominant Alzheimer’s in an APOE3-Christchurch homozygote: a case report
Joseph F. Arboleda-Velasquez, Francisco Lopera, Michael O’Hare, Santiago Delgado-Tirado, Claudia Marino, Natalia Chmielewska, Kahira L. Saez-Torres, Dhanesh Amarnani, Aaron P. Schultz, Reisa A. Sperling, David Leyton-Cifuentes, Kewei Chen, Ana Baena, David Aguillon, Silvia Rios-Romenets, Margarita Giraldo, Edmarie Guzmán-Vélez, Daniel J. Norton, Enmanuelle Pardilla-Delgado, Arabiye Artola, Justin S. Sanchez, Juliana Acosta-Uribe, Matthew Lalli, Kenneth S. Kosik, Matthew J. Huentelman, Henrik Zetterberg, Kaj Blennow, Rebecca A. Reiman, Ji Luo, Yinghua Chen, Pradeep Thiyyagura, Yi Su, Gyungah R. Jun, Marcus Naymik, Xiaowu Gai, Moiz Bootwalla, Jianling Ji, Lishuang Shen, John B. Miller, Leo A. Kim, Pierre N. Tariot, Keith A. Johnson, Eric M. Reiman, Yakeel T. Quiroz
Nat Med. Author manuscript; available in PMC 2020 May 4.
Published in final edited form as: Nat Med. 2019 Nov; 25(11): 1680–1683. Published online 2019 Nov 4. doi: 10.1038/s41591-019-0611-3
PMCID:
PMC6898984
AbstractArticlePDF–1.2M
2.
An atomic structure of human γ-secretase
Xiao-chen Bai, Chuangye Yan, Guanghui Yang, Peilong Lu, Dan Ma, Linfeng Sun, Rui Zhou, Sjors H.W. Scheres, Yigong Shi
Nature. Author manuscript; available in PMC 2016 Mar 10.
Published in final edited form as: Nature. 2015 Sep 10; 525(7568): 212–217. Published online 2015 Aug 17. doi: 10.1038/nature14892
PMCID:
PMC4568306
AbstractArticlePDF–6.7M
3.
Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation
Kenneth S. Kosik, Claudia Muñoz, Liliana Lopez, Mary Luz Arcila, Gloria García, Lucía Madrigal, Sonia Moreno, Silvia Ríos Romenets, Hugo Lopez, Madelyn Gutierrez, Jessica B. Langbaum, William Cho, Shehnaaz Suliman, Pierre N. Tariot, Carole Ho, Eric M. Reiman, Francisco Lopera
Neurology. 2015 Jan 13; 84(2): 206–208. doi: 10.1212/WNL.0000000000001130
PMCID:
PMC4336083
ArticlePDF–268K
4.
Three-dimensional structure of human γ-secretase
Peilong Lu, Xiao-chen Bai, Dan Ma, Tian Xie, Chuangye Yan, Linfeng Sun, Guanghui Yang, Yanyu Zhao, Rui Zhou, Sjors H.W. Scheres, Yigong Shi
Nature. Author manuscript; available in PMC 2015 Feb 14.
Published in final edited form as: Nature. 2014 Aug 14; 512(7513): 166–170. Published online 2014 Jun 29. doi: 10.1038/nature13567
PMCID:
PMC4134323
AbstractArticlePDF–2.6M
5.
A novel p.Leu(381)Phe mutation in Presenilin 1 is associated with very early onset and unusually fast progressing dementia, and lysosomal inclusions typically seen in Kufs disease
Natalia Dolzhanskaya, Michael A. Gonzalez, Fiorella Sperziani, Shannon Stefl, Jeffrey Messing, Guang Y Wen, Emil Alexov, S Stephan Zuchner, Milen Velinov
J Alzheimers Dis. Author manuscript; available in PMC 2014 May 8.
Published in final edited form as: J Alzheimers Dis. 2014; 39(1): 23–27. doi: 10.3233/JAD-131340
PMCID:
PMC4013718
AbstractArticlePDF–213K
6.
NLRP3 is activated in Alzheimer´s disease and contributes to pathology in APP/PS1 mice
Michael T. Heneka, Markus P. Kummer, Andrea Stutz, Andrea Delekate, Stephanie Schwartz, Ana Saecker, Angelika Griep, Daisy Axt, Anita Remus, Te-Chen Tzeng, Ellen Gelpi, Annett Halle, Martin Korte, Eicke Latz, Douglas Golenbock
Nature. Author manuscript; available in PMC 2013 Oct 30.
Published in final edited form as: Nature. 2013 Jan 31; 493(7434): 674–678. Published online 2012 Dec 19. doi: 10.1038/nature11729
PMCID:
PMC3812809
AbstractArticlePDF–1.9M
7.
Worldwide distribution of PSEN1 Met146Leu mutation: A large variability for a founder mutation
A. C. Bruni, L. Bernardi, R. Colao, E. Rubino, N. Smirne, F. Frangipane, B. Terni, S.A.M. Curcio, M. Mirabelli, A. Clodomiro, R. Di Lorenzo, R. Maletta, M. Anfossi, M. Gallo, S. Geracitano, C. Tomaino, M. G. Muraca, A. Leotta, S. G. Lio, L. Pinessi, I. Rainero, S. Sorbi, L. Nee, G. Milan, S. Pappatá, A. Postiglione, N. Abbamondi, G. Forloni, P. St. George Hyslop, E. Rogaeva, O. Bugiani, G. Giaccone, J. F. Foncin, M. G. Spillantini, G. Puccio
Neurology. 2010 Mar 9; 74(10): 798–806. doi: 10.1212/WNL.0b013e3181d52785
PMCID:
PMC3672006
AbstractArticlePDF–931K
8.
The A431E mutation in PSEN1 causing Familial Alzheimer’s Disease originating in Jalisco State, Mexico: an additional fifteen families
Jill Murrell, Bernardino Ghetti, Elizabeth Cochran, Miguel Angel Macias-Islas, Luis Medina, Arousiak Varpetian, Jeffrey L. Cummings, Mario F. Mendez, Claudia Kawas, Helena Chui, John M. Ringman
Neurogenetics. Author manuscript; available in PMC 2012 Jun 19.
Published in final edited form as: Neurogenetics. 2006 Nov; 7(4): 277–279. Published online 2006 Aug 5. doi: 10.1007/s10048-006-0053-1
PMCID:
PMC3378247
AbstractArticlePDF–29K
9.
Neuropsychological function in nondemented carriers of presenilin-1 mutations
Dr. J.M. Ringman, Dr. C. Diaz-Olavarrieta, Dr. Y. Rodriguez, Dr. M. Chavez, Dr. L. Fairbanks, Dr. F. Paz, Dr. A. Varpetian, Dr. H.C. Maldonado, Dr. M.A. Macias-Islas, Dr. J. Murrell, Dr. B. Ghetti, Dr. C. Kawas
Neurology. Author manuscript; available in PMC 2012 Jun 12.
Published in final edited form as: Neurology. 2005 Aug 23; 65(4): 552–558. doi: 10.1212/01.wnl.0000172919.50001.d6
PMCID:
PMC3373251
AbstractArticlePDF–379K
10.
Familial Alzheimer Disease Presenilin-1 Mutations Alter the Active Site Conformation of γ-secretase
De-Ming Chau, Christina J. Crump, Jennifer C. Villa, David A. Scheinberg, Yue-Ming Li
J Biol Chem. 2012 May 18; 287(21): 17288–17296. Published online 2012 Mar 29. doi: 10.1074/jbc.M111.300483
PMCID:
PMC3366784
AbstractArticlePDF–1.3M
11.
Presenilins Form ER Ca2+ Leak Channels, a Function Disrupted by Familial Alzheimer's Disease-Linked Mutations
Huiping Tu, Omar Nelson, Arseny Bezprozvanny, Zhengnan Wang, Sheu-Fen Lee, Yi-Heng Hao, Lutgarde Serneels, Bart De Strooper, Gang Yu, Ilya Bezprozvanny
Cell. Author manuscript; available in PMC 2011 Dec 17.
Published in final edited form as: Cell. 2006 Sep 8; 126(5): 981–993. doi: 10.1016/j.cell.2006.06.059
PMCID:
PMC3241869
AbstractArticlePDF–1.5M
12.
Presenilin-dependent Receptor Processing is Required for Axon Guidance
Ge Bai, Onanong Chivatakarn, Dario Bonanomi, Karen Lettieri, Laura Franco, Caihong Xia, Elke Stein, Le Ma, Joseph W. Lewcock, Samuel L. Pfaff
Cell. Author manuscript; available in PMC 2011 Jul 7.
Published in final edited form as: Cell. 2011 Jan 7; 144(1): 106–118. doi: 10.1016/j.cell.2010.11.053
PMCID:
PMC3034090
AbstractArticlePDF–2.9M
13.
Modulation of γ-Secretase Reduces β-Amyloid Deposition in a Transgenic Mouse Model of Alzheimer's Disease
Maria Z. Kounnas, Anne M. Danks, Soan Cheng, Curtis Tyree, Elizabeth Ackerman, Xulun Zhang, Kwangwook Ahn, Phuong Nguyen, Dan Comer, Long Mao, Chengzhi Yu, David Pleynet, Paul J. Digregorio, Gonul Velicelebi, Kenneth A. Stauderman, William T. Comer, William C. Mobley, Yue-Ming Li, Sangram S. Sisodia, Rudolph E. Tanzi, Steven L. Wagner
Neuron. Author manuscript; available in PMC 2011 Sep 9.
Published in final edited form as: Neuron. 2010 Sep 9; 67(5): 769–780. doi: 10.1016/j.neuron.2010.08.018
PMCID:
PMC2947312
AbstractArticlePDF–1.8M
14.
Presenilins are Essential for Regulating Neurotransmitter Release
Chen Zhang, Bei Wu, Vassilios Beglopoulos, Mary Wines-Samuelson, Dawei Zhang, Ioannis Dragatsis, Thomas C. Südhof, Jie Shen
Nature. Author manuscript; available in PMC 2010 Jan 30.
Published in final edited form as: Nature. 2009 Jul 30; 460(7255): 632–636. doi: 10.1038/nature08177
PMCID:
PMC2744588
AbstractArticlePDF–769K
15.
PRESENILIN1 G217R MUTATION LINKED TO ALZHEIMER DISEASE WITH COTTON WOOL PLAQUES
J B. Norton, N J. Cairns, S Chakraverty, J Wang, D Levitch, J E. Galvin, A Goate
Neurology. 2009 Aug 11; 73(6): 480–482. doi: 10.1212/WNL.0b013e3181b163ba
PMCID:
PMC2727146
ArticlePDF–1009K
16.
Capacitative Calcium Entry Deficits and Elevated Luminal Calcium Content in Mutant Presenilin-1 Knockin Mice
Malcolm A. Leissring, Yama Akbari, Christopher M. Fanger, Michael D. Cahalan, Mark P. Mattson, Frank M. LaFerla
J Cell Biol. 2000 May 15; 149(4): 793–798. doi: 10.1083/jcb.149.4.793
PMCID:
PMC2174559
AbstractArticlePDF–86K
17.
Presenilin 1 mediates the turnover of telencephalin in hippocampal neurons via an autophagic degradative pathway
Cary Esselens, Viola Oorschot, Veerle Baert, Tim Raemaekers, Kurt Spittaels, Lutgarde Serneels, Hui Zheng, Paul Saftig, Bart De Strooper, Judith Klumperman, Wim Annaert
J Cell Biol. 2004 Sep 27; 166(7): 1041–1054. doi: 10.1083/jcb.200406060
PMCID:
PMC2172014
AbstractArticlePDF–6.5M
18.
Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine→serine (L250S) substitution at codon 250 of the presenilin 1 gene
R. Harvey, D. Ellison, J. Hardy, M. Hutton, P. Roques, J. Collinge, N. Fox, M. Rossor
J Neurol Neurosurg Psychiatry. 1998 Jan; 64(1): 44–49. doi: 10.1136/jnnp.64.1.44
PMCID:
PMC2169918
SummaryPDF–219K
19.
Analysis of transcriptional modulation of the presenilin 1 gene promoter by ZNF237, a candidate binding partner of the Ets transcription factor ERM
Martine Pastorcic, Hriday K. Das
Brain Res. Author manuscript; available in PMC 2008 Jan 12.
Published in final edited form as: Brain Res. 2007 Jan 12; 1128(1): 21–32. Published online 2006 Nov 28. doi: 10.1016/j.brainres.2006.10.056
PMCID:
PMC1876729
AbstractArticlePDF–1.9M
20.
Presenilin mutations linked to familial Alzheimer's disease cause an imbalance in phosphatidylinositol 4,5-bisphosphate metabolism
Natalie Landman, Soon Youn Jeong, Sun Young Shin, Sergey V. Voronov, Geo Serban, Min Suk Kang, Myung Kyu Park, Gilbert Di Paolo, Sungkwon Chung, Tae-Wan Kim
Proc Natl Acad Sci U S A. 2006 Dec 19; 103(51): 19524–19529. Published online 2006 Dec 8. doi: 10.1073/pnas.0604954103
PMCID:
PMC1748258
AbstractArticlePDF–1.0M

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