Variant ID: 21-27264096-C-A

NM_000484.3(APP):c.2149G>T;(p.Val717Phe)

This variant was identified in 651 publications




Publications:


Alix and Syntenin-1 direct amyloid precursor protein trafficking into extracellular vesicles.

Bmc Molecular And Cell Biology
AS Cone, SN Hurwitz, GS Lee, X Yuan, Y Zhou, Y Li, DG Meckes
Publication Date: 2020-07-30

Variant appearance in text: APP: V717F
PMID: 32731849
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Phosphorylated Aβ peptides in human Down syndrome brain and different Alzheimer's-like mouse models.

Acta Neuropathologica Communications
S Kumar, CA Lemere, J Walter
Publication Date: 2020-07-29

Variant appearance in text: APP: V717F
PMID: 32727580
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Magnolol Ameliorates Behavioral Impairments and Neuropathology in a Transgenic Mouse Model of Alzheimer's Disease.

Oxidative Medicine And Cellular Longevity
YF Xian, C Qu, Y Liu, SP Ip, QJ Yuan, W Yang, ZX Lin
Publication Date: 2020

Variant appearance in text: APP: V717F
PMID: 32714487
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Recruiting the innate immune system with GM-CSF to fight viral diseases, including West Nile Virus encephalitis and COVID-19.

F1000Research
H Potter, TD Boyd, P Clarke, VS Pelak, KL Tyler
Publication Date: 2020

Variant appearance in text: APP: V717F
PMID: 32704352
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Caspase Activation and Caspase-Mediated Cleavage of APP Is Associated with Amyloid β-Protein-Induced Synapse Loss in Alzheimer's Disease.

Cell Reports
G Park, HS Nhan, SH Tyan, Y Kawakatsu, C Zhang, M Navarro, EH Koo
Publication Date: 2020-06-30

Variant appearance in text: APP: Val717Phe
PMID: 32610140
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The Role of P2X7 Receptor in Alzheimer's Disease.

Frontiers In Molecular Neuroscience
L Francistiová, C Bianchi, C Di Lauro, Á Sebastián-Serrano, L de Diego-García, J Kobolák, A Dinnyés, M Díaz-Hernández
Publication Date: 2020

Variant appearance in text: APP: V717F
PMID: 32581707
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Brain Derived Exosomes Are a Double-Edged Sword in Alzheimer's Disease.

Frontiers In Molecular Neuroscience
Z Song, Y Xu, W Deng, L Zhang, H Zhu, P Yu, Y Qu, W Zhao, Y Han, C Qin
Publication Date: 2020

Variant appearance in text: APP: V717F
PMID: 32547364
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Genes Bound by ΔFosB in Different Conditions With Recurrent Seizures Regulate Similar Neuronal Functions.

Frontiers In Neuroscience
GS Stephens, CH Fu, CP St Romain, Y Zheng, JJ Botterill, HE Scharfman, Y Liu, J Chin
Publication Date: 2020

Variant appearance in text: APP: V717F
PMID: 32536852
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Secondary Metabolites from Plants Possessing Inhibitory Properties against Beta-Amyloid Aggregation as Revealed by Thioflavin-T Assay and Correlations with Investigations on Transgenic Mouse Models of Alzheimer's Disease.

Biomolecules
R Stefanescu, GD Stanciu, A Luca, L Paduraru, BI Tamba
Publication Date: 2020-06-06

Variant appearance in text: APP: V717F
PMID: 32517180
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Understanding the Pathophysiology of Cerebral Amyloid Angiopathy.

International Journal Of Molecular Sciences
L Gatti, F Tinelli, E Scelzo, F Arioli, G Di Fede, L Obici, L Pantoni, G Giaccone, P Caroppo, EA Parati, A Bersano
Publication Date: 2020-05-13

Variant appearance in text: APP: V717F
PMID: 32414028
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Adenosine A2A Receptor Antagonists Affects NMDA Glutamate Receptor Function. Potential to Address Neurodegeneration in Alzheimer's Disease.

Cells
R Franco, R Rivas-Santisteban, M Casanovas, A Lillo, CA Saura, G Navarro
Publication Date: 2020-04-26

Variant appearance in text: APP: V717F
PMID: 32357548
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Functional roles and networks of non-coding RNAs in the pathogenesis of neurodegenerative diseases.

Journal Of Biomedical Science
YY Wu, HC Kuo
Publication Date: 2020-04-07

Variant appearance in text: APP: V717F
PMID: 32264890
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The rare and the common: scale and the genetic imaginary in Alzheimer's disease drug development.

New Genetics And Society
R Milne
Publication Date: 2020

Variant appearance in text: APP: V717F
PMID: 32256202
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Amyloid-β42/40 ratio drives tau pathology in 3D human neural cell culture models of Alzheimer's disease.

Nature Communications
SS Kwak, KJ Washicosky, E Brand, D von Maydell, J Aronson, S Kim, DE Capen, M Cetinbas, R Sadreyev, S Ning, E Bylykbashi, W Xia, SL Wagner, SH Choi, RE Tanzi, DY Kim
Publication Date: 2020-03-13

Variant appearance in text: APP: V717F
PMID: 32170138
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Prominent amyloid plaque pathology and cerebral amyloid angiopathy in APP V717I (London) carrier - phenotypic variability in autosomal dominant Alzheimer's disease.

Acta Neuropathologica Communications
GM Lloyd, JA Trejo-Lopez, Y Xia, KN McFarland, SJ Lincoln, N Ertekin-Taner, BI Giasson, AT Yachnis, S Prokop
Publication Date: 2020-03-12

Variant appearance in text: APP: V717F
PMID: 32164763
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Endogenous 3-Iodothyronamine (T1AM) and Synthetic Thyronamine-like Analog SG-2 Act as Novel Pleiotropic Neuroprotective Agents Through the Modulation of SIRT6.

Molecules (Basel, Switzerland)
L Bellusci, M Runfola, V Carnicelli, S Sestito, F Fulceri, F Santucci, P Lenzi, F Fornai, S Rapposelli, N Origlia, R Zucchi, G Chiellini
Publication Date: 2020-02-26

Variant appearance in text: APP: V717F
PMID: 32110992
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Delivering Crocetin across the Blood-Brain Barrier by Using γ-Cyclodextrin to Treat Alzheimer's Disease.

Scientific Reports
KH Wong, Y Xie, X Huang, K Kadota, XS Yao, Y Yu, X Chen, A Lu, Z Yang
Publication Date: 2020-02-27

Variant appearance in text: APP: V717F
PMID: 32107408
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Central and Peripheral Metabolic Defects Contribute to the Pathogenesis of Alzheimer's Disease: Targeting Mitochondria for Diagnosis and Prevention.

Antioxidants & Redox Signaling
Y Peng, P Gao, L Shi, L Chen, J Liu, J Long
Publication Date: 2020-02-12

Variant appearance in text: APP: V717F
PMID: 32050773
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Transcriptional Signatures of Tau and Amyloid Neuropathology.

Cell Reports
I Castanho, TK Murray, E Hannon, A Jeffries, E Walker, E Laing, H Baulf, J Harvey, L Bradshaw, A Randall, K Moore, P O'Neill, K Lunnon, DA Collier, Z Ahmed, MJ O'Neill, J Mill
Publication Date: 2020-02-11

Variant appearance in text: APP: V717F
PMID: 32049030
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Beta secretase 1-dependent amyloid precursor protein processing promotes excessive vascular sprouting through NOTCH3 signalling.

Cell Death & Disease
CS Durrant, K Ruscher, O Sheppard, MP Coleman, I Özen
Publication Date: 2020-02-06

Variant appearance in text: APP: V717F
PMID: 32029735
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Fungicide Residues Exposure and Aggregation in a Mouse Model of Alzheimer's Disease.

Environmental Health Perspectives
PA Lafon, Y Wang, M Arango-Lievano, J Torrent, L Salvador-Prince, M Mansuy, N Mestre-Francès, L Givalois, J Liu, JV Mercader, F Jeanneteau, C Desrumaux, V Perrier
Publication Date: 2020-01

Variant appearance in text: APP: V717F
PMID: 31939705
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Interleukin-1β drives NEDD8 nuclear-to-cytoplasmic translocation, fostering parkin activation via NEDD8 binding to the P-ubiquitin activating site.

Journal Of Neuroinflammation
M Balasubramaniam, PA Parcon, C Bose, L Liu, RA Jones, MR Farlow, RE Mrak, SW Barger, WST Griffin
Publication Date: 2019-12-27

Variant appearance in text: APP: v717f
PMID: 31882005
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Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.

Cold Spring Harbor Molecular Case Studies
JN Cochran, EC McKinley, M Cochran, MD Amaral, BA Moyers, BN Lasseigne, DE Gray, JMJ Lawlor, JW Prokop, EG Geier, JM Holt, ML Thompson, JS Newberry, JS Yokoyama, EA Worthey, DS Geldmacher, MN Love, GM Cooper, RM Myers, ED Roberson
Publication Date: 2019-12

Variant appearance in text: APP: 2149G>T; Val717Phe; rs63750264
PMID: 31836585
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Optogenetic gamma stimulation rescues memory impairments in an Alzheimer's disease mouse model.

Nature Communications
G Etter, S van der Veldt, F Manseau, I Zarrinkoub, E Trillaud-Doppia, S Williams
Publication Date: 2019-11-22

Variant appearance in text: APP: V717F
PMID: 31757962
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Plant sphingolipids promote extracellular vesicle release and alleviate amyloid-β pathologies in a mouse model of Alzheimer's disease.

Scientific Reports
K Yuyama, K Takahashi, S Usuki, D Mikami, H Sun, H Hanamatsu, J Furukawa, K Mukai, Y Igarashi
Publication Date: 2019-11-14

Variant appearance in text: APP: V717F
PMID: 31727994
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Environmental enrichment prevents Aβ oligomer-induced synaptic dysfunction through mirna-132 and hdac3 signaling pathways.

Neurobiology Of Disease
Z Wei, X Meng, R El Fatimy, B Sun, D Mai, J Zhang, R Arora, A Zeng, P Xu, S Qu, AM Krichevsky, DJ Selkoe, S Li
Publication Date: 2019-10-24

Variant appearance in text: APP: V717F
PMID: 31669733
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Sphingosine Kinase 2 Potentiates Amyloid Deposition but Protects against Hippocampal Volume Loss and Demyelination in a Mouse Model of Alzheimer's Disease.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
M Lei, JD Teo, H Song, HP McEwen, J Yup Lee, TA Couttas, T Duncan, R Chesworth, J Bertz, M Przybyla, J Van Eersel, B Heng, GJ Guillemin, LM Ittner, T Fath, B Garner, A Ittner, T Karl, AS Don
Publication Date: 2019-11-27

Variant appearance in text: APP: V717F
PMID: 31641049
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Imbalance in the response of pre- and post-synaptic components to amyloidopathy.

Scientific Reports
TL Stephen, F Tamagnini, J Piegsa, K Sung, J Harvey, A Oliver-Evans, TK Murray, Z Ahmed, ML Hutton, A Randall, MJ O'Neill, JS Jackson
Publication Date: 2019-10-16

Variant appearance in text: APP: V717F
PMID: 31619689
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Astroglia in Alzheimer's Disease.

Advances In Experimental Medicine And Biology
A Verkhratsky, V Parpura, JJ Rodriguez-Arellano, R Zorec
Publication Date: 2019

Variant appearance in text: APP: V717F
PMID: 31583592
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Successful Brain Delivery of Andrographolide Loaded in Human Albumin Nanoparticles to TgCRND8 Mice, an Alzheimer's Disease Mouse Model.

Frontiers In Pharmacology
AR Bilia, P Nardiello, V Piazzini, M Leri, MC Bergonzi, M Bucciantini, F Casamenti
Publication Date: 2019

Variant appearance in text: APP: V717F
PMID: 31507412
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Endothelial Mitochondrial Dysfunction in Cerebral Amyloid Angiopathy and Alzheimer's Disease.

Journal Of Alzheimer'S Disease : Jad
R Parodi-Rullán, JY Sone, S Fossati
Publication Date: 2019

Variant appearance in text: APP: V717F
PMID: 31306129
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The Nutritional Components of Beer and Its Relationship with Neurodegeneration and Alzheimer's Disease.

Nutrients
FJ Sánchez-Muniz, A Macho-González, A Garcimartín, JA Santos-López, J Benedí, S Bastida, MJ González-Muñoz
Publication Date: 2019-07-10

Variant appearance in text: APP: V717F
PMID: 31295866
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Early Seizure Activity Accelerates Depletion of Hippocampal Neural Stem Cells and Impairs Spatial Discrimination in an Alzheimer's Disease Model.

Cell Reports
CH Fu, DM Iascone, I Petrof, A Hazra, X Zhang, MS Pyfer, U Tosi, BF Corbett, J Cai, J Lee, J Park, L Iacovitti, HE Scharfman, G Enikolopov, J Chin
Publication Date: 2019-06-25

Variant appearance in text: APP: V717F
PMID: 31242408
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Estrogen-Dominant Ovarian Cycle Stages Are Associated with Neural Network Dysfunction and Cognitive and Behavioral Deficits in the hAPP-J20 Mouse Model of Alzheimer's Disease.

Eneuro
RSE Carney
Publication Date: 2019

Variant appearance in text: APP: V717F
PMID: 31147386
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Spreading of α-Synuclein and Tau: A Systematic Comparison of the Mechanisms Involved.

Frontiers In Molecular Neuroscience
E Vasili, A Dominguez-Meijide, TF Outeiro
Publication Date: 2019

Variant appearance in text: APP: V717F
PMID: 31105524
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Rapamycin and Alzheimer disease: a double-edged sword?

Autophagy
JM Carosi, TJ Sargeant
Publication Date: 2019-08

Variant appearance in text: APP: V717F
PMID: 31066320
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Amyloid Peptide Induced Neuroinflammation Increases the P2X7 Receptor Expression in Microglial Cells, Impacting on Its Functionality.

Frontiers In Cellular Neuroscience
C Martínez-Frailes, C Di Lauro, C Bianchi, L de Diego-García, Á Sebastián-Serrano, L Boscá, M Díaz-Hernández
Publication Date: 2019

Variant appearance in text: APP: V717F
PMID: 31031598
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Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Aging And Disease
C Bi, S Bi, B Li
Publication Date: 2019-04

Variant appearance in text: APP: V717F
PMID: 31011484
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Contributions of Mass Spectrometry to the Identification of Low Molecular Weight Molecules Able to Reduce the Toxicity of Amyloid-β Peptide to Cell Cultures and Transgenic Mouse Models of Alzheimer's Disease.

Molecules (Basel, Switzerland)
R Ştefănescu, GD Stanciu, A Luca, IC Caba, BI Tamba, CT Mihai
Publication Date: 2019-03-24

Variant appearance in text: APP: V717F
PMID: 30909659
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The vexing complexity of the amyloidogenic pathway.

Protein Science : A Publication Of The Protein Society
MA Castro, A Hadziselimovic, CR Sanders
Publication Date: 2019-07

Variant appearance in text: APP: V717F
PMID: 30897251
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Experimental Pharmacology in Transgenic Rodent Models of Alzheimer's Disease.

Frontiers In Pharmacology
AC Cuello, H Hall, S Do Carmo
Publication Date: 2019

Variant appearance in text: APP: V717F
PMID: 30886583
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Converging and Differential Brain Phospholipid Dysregulation in the Pathogenesis of Repetitive Mild Traumatic Brain Injury and Alzheimer's Disease.

Frontiers In Neuroscience
JO Ojo, M Algamal, P Leary, L Abdullah, B Mouzon, JE Evans, M Mullan, F Crawford
Publication Date: 2019

Variant appearance in text: APP: V717F
PMID: 30837829
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Adeno-associated virus-based Alzheimer's disease mouse models and potential new therapeutic avenues.

British Journal Of Pharmacology
LM Ittner, M Klugmann, YD Ke
Publication Date: 2019-09

Variant appearance in text: APP: V717F
PMID: 30817847
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Iso-α-Acids, Bitter Components in Beer, Suppress Inflammatory Responses and Attenuate Neural Hyperactivation in the Hippocampus.

Frontiers In Pharmacology
Y Ano, M Yoshikawa, Y Takaichi, M Michikawa, K Uchida, H Nakayama, A Takashima
Publication Date: 2019

Variant appearance in text: APP: V717F
PMID: 30804789
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Emergence of synaptic and cognitive impairment in a mature-onset APP mouse model of Alzheimer's disease.

Acta Neuropathologica Communications
S Sri, CM Pegasiou, CA Cave, K Hough, N Wood, D Gomez-Nicola, K Deinhardt, D Bannerman, VH Perry, M Vargas-Caballero
Publication Date: 2019-02-22

Variant appearance in text: APP: V717F
PMID: 30795807
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Dynamin-like protein 1 cleavage by calpain in Alzheimer's disease.

Aging Cell
S Jiang, C Shao, F Tang, W Wang, X Zhu
Publication Date: 2019-06

Variant appearance in text: APP: V717F
PMID: 30767411
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Alzheimer's disease phospholipase C-gamma-2 (PLCG2) protective variant is a functional hypermorph.

Alzheimer'S Research & Therapy
L Magno, CB Lessard, M Martins, V Lang, P Cruz, Y Asi, M Katan, J Bilsland, T Lashley, P Chakrabarty, TE Golde, PJ Whiting
Publication Date: 2019-02-02

Variant appearance in text: APP: V717F
PMID: 30711010
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Dietary Restriction and Neuroinflammation: A Potential Mechanistic Link.

International Journal Of Molecular Sciences
E Bok, M Jo, S Lee, BR Lee, J Kim, HJ Kim
Publication Date: 2019-01-22

Variant appearance in text: APP: V717F
PMID: 30678217
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Reduced presynaptic vesicle stores mediate cellular and network plasticity defects in an early-stage mouse model of Alzheimer's disease.

Molecular Neurodegeneration
S Chakroborty, ES Hill, DT Christian, R Helfrich, S Riley, C Schneider, N Kapecki, S Mustaly-Kalimi, FA Seiler, DA Peterson, AR West, BM Vertel, WN Frost, GE Stutzmann
Publication Date: 2019-01-22

Variant appearance in text: APP: V717F
PMID: 30670054
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Genetic reduction of eEF2 kinase alleviates pathophysiology in Alzheimer's disease model mice.

The Journal Of Clinical Investigation
BC Beckelman, W Yang, NP Kasica, HR Zimmermann, X Zhou, CD Keene, AG Ryazanov, T Ma
Publication Date: 2019-02-01

Variant appearance in text: APP: V717F
PMID: 30667373
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A short perspective on the long road to effective treatments for Alzheimer's disease.

British Journal Of Pharmacology
DS Reynolds
Publication Date: 2019-09

Variant appearance in text: APP: V717F
PMID: 30657599
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Don't forget astrocytes when targeting Alzheimer's disease.

British Journal Of Pharmacology
JS Sadick, SA Liddelow
Publication Date: 2019-09

Variant appearance in text: APP: V717F
PMID: 30636042
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Ovarian Cycle Stages Modulate Alzheimer-Related Cognitive and Brain Network Alterations in Female Mice.

Eneuro
L Broestl, K Worden, AJ Moreno, EJ Davis, D Wang, B Garay, T Singh, L Verret, JJ Palop, DB Dubal
Publication Date: 2018

Variant appearance in text: APP: V717F
PMID: 30627643
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It's all about tau.

Progress In Neurobiology
C Tapia-Rojas, F Cabezas-Opazo, CA Deaton, EH Vergara, GVW Johnson, RA Quintanilla
Publication Date: 2019-04

Variant appearance in text: APP: V717F
PMID: 30605723
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Selective reduction of APP-BACE1 activity improves memory via NMDA-NR2B receptor-mediated mechanisms in aged PDAPP mice.

Neurobiology Of Aging
CE Evans, RS Thomas, TJ Freeman, M Hvoslef-Eide, MA Good, EJ Kidd
Publication Date: 2019-03

Variant appearance in text: APP: V717F
PMID: 30572184
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Genetic analysis of neurodegenerative diseases in a pathology cohort.

Neurobiology Of Aging
C Blauwendraat, O Pletnikova, JT Geiger, NA Murphy, Y Abramzon, G Rudow, A Mamais, MS Sabir, B Crain, S Ahmed, LS Rosenthal, CC Bakker, F Faghri, R Chia, J Ding, TM Dawson, A Pantelyat, MS Albert, MA Nalls, SM Resnick, L Ferrucci, MR Cookson, AE Hillis, JC Troncoso, SW Scholz
Publication Date: 2019-04

Variant appearance in text: APP: V717F
PMID: 30528841
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Aberrant accrual of BIN1 near Alzheimer's disease amyloid deposits in transgenic models.

Brain Pathology (Zurich, Switzerland)
P De Rossi, RJ Andrew, TF Musial, V Buggia-Prevot, G Xu, M Ponnusamy, H Ly, SV Krause, RC Rice, V de l'Estoile, T Valin, S Salem, F Despa, DR Borchelt, VP Bindokas, DA Nicholson, G Thinakaran
Publication Date: 2019-07

Variant appearance in text: APP: V717F
PMID: 30506549
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SAR228810: an antibody for protofibrillar amyloid β peptide designed to reduce the risk of amyloid-related imaging abnormalities (ARIA).

Alzheimer'S Research & Therapy
L Pradier, V Blanchard-Brégeon, A Bohme, T Debeir, J Menager, P Benoit, P Barneoud, V Taupin, P Bertrand, P Dugay, B Cameron, Y Shi, S Naimi, M Duchesne, M Gagnaire, T Weeden, T Travaline, D Reczek, L Khiroug, M Slaoui, P Brunel, H Fukuyama, J Ravetch, T Canton, C Cohen
Publication Date: 2018-11-28

Variant appearance in text: APP: V717F
PMID: 30486882
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Different Patterns of Neurodegeneration and Glia Activation in CA1 and CA3 Hippocampal Regions of TgCRND8 Mice.

Frontiers In Aging Neuroscience
F Ugolini, D Lana, P Nardiello, D Nosi, D Pantano, F Casamenti, MG Giovannini
Publication Date: 2018

Variant appearance in text: APP: V717F
PMID: 30483118
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Intracellular metalloprotease activity controls intraneuronal Aβ aggregation and limits secretion of Aβ via exosomes.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
J Pacheco-Quinto, D Clausen, R Pérez-González, H Peng, A Meszaros, CB Eckman, E Levy, EA Eckman
Publication Date: 2019-03

Variant appearance in text: APP: V717F
PMID: 30481490
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Amyloid precursor protein-mediated mitochondrial regulation and Alzheimer's disease.

British Journal Of Pharmacology
MIG Lopez Sanchez, P van Wijngaarden, IA Trounce
Publication Date: 2019-09

Variant appearance in text: APP: V717F
PMID: 30471088
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Decoding the synaptic dysfunction of bioactive human AD brain soluble Aβ to inspire novel therapeutic avenues for Alzheimer's disease.

Acta Neuropathologica Communications
S Li, M Jin, L Liu, Y Dang, BL Ostaszewski, DJ Selkoe
Publication Date: 2018-11-08

Variant appearance in text: APP: V717F
PMID: 30409172
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Sirtuin 3 attenuates amyloid-β induced neuronal hypometabolism.

Aging
J Yin, S Li, M Nielsen, T Carcione, WS Liang, J Shi
Publication Date: 2018-10-23

Variant appearance in text: APP: V717F
PMID: 30362958
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Role of purinergic receptors in the Alzheimer's disease.

Purinergic Signalling
M Cieślak, A Wojtczak
Publication Date: 2018-12

Variant appearance in text: APP: V717F
PMID: 30362042
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Neurovascular dysfunction in vascular dementia, Alzheimer's and atherosclerosis.

Bmc Neuroscience
O Shabir, J Berwick, SE Francis
Publication Date: 2018-10-17

Variant appearance in text: APP: V717F
PMID: 30333009
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The Contribution and Therapeutic Potential of Epigenetic Modifications in Alzheimer's Disease.

Frontiers In Neuroscience
IC Wood
Publication Date: 2018

Variant appearance in text: APP: V717F
PMID: 30283297
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Blood-Brain Barrier: From Physiology to Disease and Back.

Physiological Reviews
MD Sweeney, Z Zhao, A Montagne, AR Nelson, BV Zlokovic
Publication Date: 2019-01-01

Variant appearance in text: APP: V717F
PMID: 30280653
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Tau filaments from multiple cases of sporadic and inherited Alzheimer's disease adopt a common fold.

Acta Neuropathologica
B Falcon, W Zhang, M Schweighauser, AG Murzin, R Vidal, HJ Garringer, B Ghetti, SHW Scheres, M Goedert
Publication Date: 2018-11

Variant appearance in text: APP: V717F
PMID: 30276465
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N-Methyl-D-Aspartate Receptor Link to the MAP Kinase Pathway in Cortical and Hippocampal Neurons and Microglia Is Dependent on Calcium Sensors and Is Blocked by α-Synuclein, Tau, and Phospho-Tau in Non-transgenic and Transgenic APPSw,Ind Mice.

Frontiers In Molecular Neuroscience
R Franco, D Aguinaga, I Reyes, EI Canela, J Lillo, A Tarutani, M Hasegawa, A Del Ser-Badia, JA Del Rio, MR Kreutz, CA Saura, G Navarro
Publication Date: 2018

Variant appearance in text: APP: V717F
PMID: 30233307
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High-Throughput Direct Mass Spectrometry-Based Metabolomics to Characterize Metabolite Fingerprints Associated with Alzheimer's Disease Pathogenesis.

Metabolites
R González-Domínguez, A Sayago, Á Fernández-Recamales
Publication Date: 2018-09-18

Variant appearance in text: APP: V717F
PMID: 30231538
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Fragile X and APP: a Decade in Review, a Vision for the Future.

Molecular Neurobiology
CJ Westmark
Publication Date: 2019-06

Variant appearance in text: APP: V717F
PMID: 30225775
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Human Alzheimer's disease gene expression signatures and immune profile in APP mouse models: a discrete transcriptomic view of Aβ plaque pathology.

Journal Of Neuroinflammation
SM Rothman, KQ Tanis, P Gandhi, V Malkov, J Marcus, M Pearson, R Stevens, J Gilliland, C Ware, V Mahadomrongkul, E O'Loughlin, G Zeballos, R Smith, BJ Howell, J Klappenbach, M Kennedy, C Mirescu
Publication Date: 2018-09-06

Variant appearance in text: APP: V717F
PMID: 30189875
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TOM1 Regulates Neuronal Accumulation of Amyloid-β Oligomers by FcγRIIb2 Variant in Alzheimer's Disease.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Y Gwon, TI Kam, SH Kim, S Song, H Park, B Lim, H Lee, W Lee, DG Jo, YK Jung
Publication Date: 2018-10-17

Variant appearance in text: APP: V717F
PMID: 30185465
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Preventing synaptic deficits in Alzheimer's disease by inhibiting tumor necrosis factor alpha signaling.

Ibro Reports
C Cavanagh, TP Wong
Publication Date: 2018-06

Variant appearance in text: APP: V717F
PMID: 30135948
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Promoting the clearance of neurotoxic proteins in neurodegenerative disorders of ageing.

Nature Reviews. Drug Discovery
B Boland, WH Yu, O Corti, B Mollereau, A Henriques, E Bezard, GM Pastores, DC Rubinsztein, RA Nixon, MR Duchen, GR Mallucci, G Kroemer, B Levine, EL Eskelinen, F Mochel, M Spedding, C Louis, OR Martin, MJ Millan
Publication Date: 2018-09

Variant appearance in text: APP: V717F
PMID: 30116051
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The Role of SIRT3 in the Brain Under Physiological and Pathological Conditions.

Frontiers In Cellular Neuroscience
E Sidorova-Darmos, R Sommer, JH Eubanks
Publication Date: 2018

Variant appearance in text: APP: V717F
PMID: 30090057
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An isoform-selective p38α mitogen-activated protein kinase inhibitor rescues early entorhinal cortex dysfunctions in a mouse model of Alzheimer's disease.

Neurobiology Of Aging
G Rutigliano, M Stazi, O Arancio, DM Watterson, N Origlia
Publication Date: 2018-10

Variant appearance in text: APP: V717F
PMID: 30007168
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Metabolic aspects of neuronal degeneration: From a NAD+ point of view.

Neuroscience Research
Y Sasaki
Publication Date: 2019-02

Variant appearance in text: APP: V717F
PMID: 30006197
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Store depletion-induced h-channel plasticity rescues a channelopathy linked to Alzheimer's disease.

Neurobiology Of Learning And Memory
TF Musial, E Molina-Campos, LA Bean, N Ybarra, R Borenstein, ML Russo, EW Buss, D Justus, KM Neuman, GD Ayala, SA Mullen, Y Voskobiynyk, CT Tulisiak, JA Fels, NJ Corbett, G Carballo, CD Kennedy, J Popovic, J Ramos-Franco, M Fill, MR Pergande, JA Borgia, GT Corbett, K Pahan, Y Han, DM Chetkovich, RJ Vassar, RW Byrne, M Matthew Oh, TR Stoub, S Remy, JF Disterhoft, DA Nicholson
Publication Date: 2018-10

Variant appearance in text: APP: V717F
PMID: 29906573
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Alzheimer's Transgenic Model Is Characterized by Very Early Brain Network Alterations and β-CTF Fragment Accumulation: Reversal by β-Secretase Inhibition.

Frontiers In Cellular Neuroscience
S Mondragón-Rodríguez, N Gu, F Manseau, S Williams
Publication Date: 2018

Variant appearance in text: APP: V717F
PMID: 29867356
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Full-length amyloid precursor protein regulates lipoprotein metabolism and amyloid-β clearance in human astrocytes.

The Journal Of Biological Chemistry
LK Fong, MM Yang, R Dos Santos Chaves, SM Reyna, VF Langness, G Woodruff, EA Roberts, JE Young, LSB Goldstein
Publication Date: 2018-07-20

Variant appearance in text: APP: V717F
PMID: 29858247
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The Amyloid-β Oligomer Hypothesis: Beginning of the Third Decade.

Journal Of Alzheimer'S Disease : Jad
EN Cline, MA Bicca, KL Viola, WL Klein
Publication Date: 2018

Variant appearance in text: APP: V717F
PMID: 29843241
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Circadian and Brain State Modulation of Network Hyperexcitability in Alzheimer's Disease.

Eneuro
R Brown, AD Lam, A Gonzalez-Sulser, A Ying, M Jones, RC Chou, M Tzioras, CY Jordan, I Jedrasiak-Cape, AL Hemonnot, M Abou Jaoude, AJ Cole, SS Cash, T Saito, T Saido, RR Ribchester, K Hashemi, I Oren
Publication Date: 2018

Variant appearance in text: APP: V717F
PMID: 29780880
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Interaction between a MAPT variant causing frontotemporal dementia and mutant APP affects axonal transport.

Neurobiology Of Aging
R Adalbert, S Milde, C Durrant, K Ando, V Stygelbout, Z Yilmaz, S Gould, JP Brion, MP Coleman
Publication Date: 2018-08

Variant appearance in text: APP: V717F
PMID: 29729423
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Solvation-Guided Design of Fluorescent Probes for Discrimination of Amyloids.

Scientific Reports
KJ Cao, KM Elbel, JL Cifelli, J Cirera, CJ Sigurdson, F Paesani, EA Theodorakis, J Yang
Publication Date: 2018-05-03

Variant appearance in text: APP: V717F
PMID: 29725045
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Inflammatory Cytokine, IL-1β, Regulates Glial Glutamate Transporter via microRNA-181a in vitro.

Journal Of Alzheimer'S Disease : Jad
J Zumkehr, CJ Rodriguez-Ortiz, R Medeiros, M Kitazawa
Publication Date: 2018

Variant appearance in text: APP: V717F
PMID: 29710703
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Can Animal Models Inform on the Relationship between Depression and Alzheimer Disease?

Canadian Journal Of Psychiatry. Revue Canadienne De Psychiatrie
JNK Nyarko, MO Quartey, GB Baker, DD Mousseau
Publication Date: 2019-01

Variant appearance in text: APP: V717F
PMID: 29685068
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Spatial reversal learning defect coincides with hypersynchronous telencephalic BOLD functional connectivity in APPNL-F/NL-F knock-in mice.

Scientific Reports
D Shah, A Latif-Hernandez, B De Strooper, T Saito, T Saido, M Verhoye, R D'Hooge, A Van der Linden
Publication Date: 2018-04-19

Variant appearance in text: APP: V717F
PMID: 29674739
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Complex role of chemokine mediators in animal models of Alzheimer's Disease.

Biomedical Journal
E Martin, C Delarasse
Publication Date: 2018-02

Variant appearance in text: APP: V717F
PMID: 29673550
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Identification of missing variants by combining multiple analytic pipelines.

Bmc Bioinformatics
Y Ren, JS Reddy, C Pottier, V Sarangi, S Tian, JP Sinnwell, SK McDonnell, JM Biernacka, MM Carrasquillo, OA Ross, N Ertekin-Taner, R Rademakers, M Hudson, LS Mainzer, YW Asmann
Publication Date: 2018-04-16

Variant appearance in text: APP: V717F
PMID: 29661148
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Oxidant/Antioxidant Imbalance in Alzheimer's Disease: Therapeutic and Diagnostic Prospects.

Oxidative Medicine And Cellular Longevity
J Wojsiat, KM Zoltowska, K Laskowska-Kaszub, U Wojda
Publication Date: 2018

Variant appearance in text: APP: V717F
PMID: 29636850
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Recent Advances: Decoding Alzheimer's Disease With Stem Cells.

Frontiers In Aging Neuroscience
Y Fang, T Gao, B Zhang, J Pu
Publication Date: 2018

Variant appearance in text: APP: V717F
PMID: 29623038
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Prion-like propagation of β-amyloid aggregates in the absence of APP overexpression.

Acta Neuropathologica Communications
A Ruiz-Riquelme, HHC Lau, E Stuart, AN Goczi, Z Wang, G Schmitt-Ulms, JC Watts
Publication Date: 2018-04-03

Variant appearance in text: APP: V717F
PMID: 29615128
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Tau Depletion in APP Transgenic Mice Attenuates Task-Related Hyperactivation of the Hippocampus and Differentially Influences Locomotor Activity and Spatial Memory.

Frontiers In Neuroscience
M Yoshikawa, Y Soeda, M Michikawa, OFX Almeida, A Takashima
Publication Date: 2018

Variant appearance in text: APP: V717F
PMID: 29545742
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Curcuminoid submicron particle ameliorates cognitive deficits and decreases amyloid pathology in Alzheimer's disease mouse model.

Oncotarget
YH Tai, YY Lin, KC Wang, CL Chang, RY Chen, CC Wu, IH Cheng
Publication Date: 2018-02-13

Variant appearance in text: APP: V717F
PMID: 29535835
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000346798.3 c.2149G>T p.Val717Phe missense_variant 17/18 -
ENST00000348990.5 c.1924G>T p.Val642Phe missense_variant 15/16 -
ENST00000354192.3 c.1756G>T p.Val586Phe missense_variant 14/15 -
ENST00000357903.3 c.2092G>T p.Val698Phe missense_variant 16/17 -
ENST00000358918.3 c.2095G>T p.Val699Phe missense_variant 16/17 -
ENST00000359726.3 c.1981G>T p.Val661Phe missense_variant 16/17 -
ENST00000439274.2 c.1981G>T p.Val661Phe missense_variant 16/17 -
ENST00000440126.3 c.2077G>T p.Val693Phe missense_variant 16/17 -
ENST00000448388.2 c.1819G>T p.Val607Phe missense_variant 15/16 -
ENST00000464867.1 n.496G>T - non_coding_transcript_exon_variant 2/3 -
NM_000484.4 c.2149G>T p.Val717Phe missense_variant 17/18 -
NM_001136016.3 c.2077G>T p.Val693Phe missense_variant 16/17 -
NM_001136129.3 c.1756G>T p.Val586Phe missense_variant 14/15 -
NM_001136130.3 c.1981G>T p.Val661Phe missense_variant 16/17 -
NM_001136131.2 c.1819G>T p.Val607Phe missense_variant 15/16 -
NM_001204301.2 c.2095G>T p.Val699Phe missense_variant 16/17 -
NM_001204302.2 c.2038G>T p.Val680Phe missense_variant 15/16 -
NM_001204303.2 c.1870G>T p.Val624Phe missense_variant 14/15 -
NM_201413.3 c.2092G>T p.Val698Phe missense_variant 16/17 -
NM_201414.3 c.1924G>T p.Val642Phe missense_variant 15/16 -