Results 61 to 70 of about 40,397 (225)

Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. [PDF]

, 2019
We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset.
A Butler, A Lalazar, A Llado, Aaron P. Schultz, Ana Baena, Arabiye Artola, AS Fleisher, Claudia Marino, D Smedley, Daniel J. Norton, David Aguillon, David Leyton-Cifuentes, DC Aguirre-Acevedo, Dhanesh Amarnani, DM Walsh, DT Chien, E Hudry, EC Mormino, Edmarie Guzmán-Vélez, EH Corder, Enmanuelle Pardilla-Delgado, Eric M. Reiman, Francisco Lopera, Gyungah R. Jun, H Braak, H Braak, Henrik Zetterberg, J Logan, JA Becker, Ji Luo, JI Velez, Jianling Ji, JN Rauch, John B. Miller, Joseph F. Arboleda-Velasquez, Juliana Acosta-Uribe, Justin S. Sanchez, KA Johnson, Kahira L. Saez-Torres, Kaj Blennow, Keith A. Johnson, Kenneth S. Kosik, Kewei Chen, L Wang, L Zhong, Leo A. Kim, Lishuang Shen, M Futamura, M Gisslén, MA Lalli, Marcus Naymik, Margarita Giraldo, Matthew J. Huentelman, Matthew Lalli, Michael O’Hare, Moiz Bootwalla, MR Wardell, N Acosta-Baena, Natalia Chmielewska, O Preische, Pierre N. Tariot, Pradeep Thiyyagura, Rebecca A. Reiman, Reisa A. Sperling, RW Mahley, S Fisher, S Thordardottir, Santiago Delgado-Tirado, Silvia Rios-Romenets, T Hashimoto, T Hashimoto, T Hedden, TM Shoup, WD Knight, Xiaowu Gai, Y Yamauchi, Yakeel T. Quiroz, Yi Su, Yinghua Chen, YT Quiroz   +79 more
core   +3 more sources

Restriction of Individual Branched‐Chain Amino Acids has Distinct Effects on the Development and Progression of Alzheimer's Disease in 3xTg Mice

Advanced Science, EarlyView.
Protein restriction (PR) slows Alzheimer's disease (AD) in mice, and other benefits of PR are due to decreased branched‐chain amino acids (BCAAs). We show that restricting any BCAA has benefits, with sex‐ and BCAA‐specific impacts on pathology, molecular signaling, and cognition.
Reji Babygirija, Cara L. Green, Michelle M. Sonsalla, Izabelle Marie F. Le, Fan Xiao, Sarah Yandell, Mariah F. Calubag, Michaela E. Trautman, Anna Tobon, Ryan Matoska, Chung‐Yang Yeh, Charles I. Opara, Isaac Grunow, Diana Vertein, Sophia Schlorf, Bailey A. Knopf, Michael J. Rigby, David A. Harris, Mark P. Keller, Alan D. Attie, Luigi Puglielli, Cholsoon Jang, Dudley W. Lamming   +22 more
wiley   +1 more source

ApoER2 processing by presenilin‐1 modulates reelin expression [PDF]

The FASEB Journal, 2013
The reelin signaling protein and its downstream components have been associated with synaptic plasticity and neurotransmission. The reelin signaling pathway begins with the binding of reelin to the transmembrane lipoprotein receptor apolipopro‐tein E receptor 2 (ApoER2), which in turns induces the sequential cleavage of ApoER2 by ...
Balmaceda V, Cuchillo-Ibáñez I, Pujadas L, García-Ayllón MS, Saura CA, Nimpf J, Soriano E, Sáez-Valero J   +7 more
openaire   +6 more sources

A Presenilin 1 Mutation Associated with Familial Frontotemporal Dementia Inhibits γ-Secretase Cleavage of APP and Notch

Neurobiology of Disease, 2002
A novel presenilin 1 mutation, insR352, associated with a frontal temporal dementia phenotype has been identified (E. A. Rogaeva et al., 2001, Neurology 57, 621–625).
Zareen Amtul, Patrick A. Lewis, Sian Piper, Richard Crook, Matt Baker, Kirk Findlay, Andrew Singleton, Marion Hogg, Linda Younkin, Steven G. Younkin, John Hardy, Michael Hutton, Bradley F. Boeve, David Tang-Wai, Todd E. Golde   +14 more
doaj   +1 more source

Changes in the expression of the Alzheimer's disease-associated presenilin gene in drosophila heart leads to cardiac dysfunction [PDF]

, 2011
Mutations in the presenilin genes cause the majority of early-onset familial Alzheimer’s disease. Recently, presenilin mutations have been identified in patients with dilated cardiomyopathy (DCM), a common cause of heart failure and the most prevalent ...
Cantiello, H. F., Fujimoto, James G., Lee, Hsiang-Chieh, Li, A., McKee, M. L., Moore, J., Raygor, K., Romano, D. M., Schoenfeld, D. A., Serra, M. J., Tanzi, R. E., Tsai, Tsung-Han, Zhang, P., Zhou, C.   +13 more
core   +2 more sources

Reduced CB1 Cannabinoid Receptor Expression in Alzheimer's Disease and Transgenic Mouse Models

AGING MEDICINE, EarlyView.
CB1 receptor (CB1R) expression was significantly reduced in the hippocampus, medial frontal gyrus, and superior temporal gyrus of Alzheimer's patients. CB1R levels negatively correlated with amyloid‐β and tau pathology. In addition, CB1R expression was also reduced in the cortex of 5xFAD mice and in the hippocampus of Tg4‐42 mice.
Nike von Borcke, Amrei Vivian Purwien, Annik Steiert, Henrike Hasecke, Yvonne Bouter   +4 more
wiley   +1 more source

Generation and deposition of Aβ43 by the virtually inactive presenilin‐1 L435F mutant contradicts the presenilin loss‐of‐function hypothesis of Alzheimer's disease

EMBO Molecular Medicine, 2016
As stated by the prevailing amyloid cascade hypothesis, Alzheimer's disease (AD) is caused by the aggregation and cerebral deposition of long amyloid‐β peptide (Aβ) species, which are released from a C‐terminal amyloid precursor protein fragment by γ ...
Benedikt Kretner, Johannes Trambauer, Akio Fukumori, Janina Mielke, Peer‐Hendrik Kuhn, Elisabeth Kremmer, Armin Giese, Stefan F Lichtenthaler, Christian Haass, Thomas Arzberger, Harald Steiner   +10 more
doaj   +1 more source

Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency

Cell Reports, 2016
Attenuated auto-lysosomal system has been associated with Alzheimer disease (AD), yet all underlying molecular mechanisms leading to this impairment are unknown. We show that the amino acid sensing of mechanistic target of rapamycin complex 1 (mTORC1) is
Kavya Reddy, Corey L. Cusack, Israel C. Nnah, Khoosheh Khayati, Chaitali Saqcena, Tuong B. Huynh, Scott A. Noggle, Andrea Ballabio, Radek Dobrowolski   +8 more
doaj   +1 more source

Pharmacological And Genetic Reversal Of Age-Dependent Cognitive Deficits Attributable To Decreased Presenilin Function [PDF]

, 2010
Alzheimer\u27s disease (AD) is the leading cause of cognitive loss and neurodegeneration in the developed world. Although its genetic and environmental causes are not generally known, familial forms of the disease (FAD) are attributable to mutations in a
Bell, A. J., Chiorean, S., Choi, C. H., Choi, R. J., Ferreiro, D., Ferrick, N. J., Fortini, M. E., Hinchey, P., Jongens, T. A., Koenigsberg, E., Kollaros, M., Liebelt, D. A., McBride, S. M.J., McDonald, T. V., Nguyen, H. T., Rudominer, R. L., Schoenfeld, B. P., Siwicki, Kathleen King, Sumida, A., Terlizzi, A. M.   +19 more
core   +2 more sources

Multi‐Targeting Ligands as Prospective Therapeutics for Alzheimer's Disease, a Prevalent Neurodegenerative Disorder: Mechanistic Insights, Emerging Targets and Drug Discovery Campaigns

Medicinal Research Reviews, EarlyView.
ABSTRACT Alzheimer's disease (AD) is a debilitating neurodegenerative condition characterized by progressive cognitive impairment, memory deterioration, and neuronal dysfunction. Its complex pathophysiology involves multiple interlinked processes, including amyloid‐β (Aβ) aggregation, tau hyperphosphorylation, oxidative stress, neuroinflammation ...
Amandeep Thakur, Mandeep Rana, Sakshi Vanjani, Kei‐Chi Liou, Rajeev Taliyan, Kunal Nepali, Chih‐Hao Yang   +6 more
wiley   +1 more source