Variant ID: 21-27264096-C-A

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

This variant was identified in 678 publications




Publications:


Neutrophil recruitment and leukocyte response following focused ultrasound and microbubble mediated blood-brain barrier treatments.

Theranostics
C Poon, C Pellow, K Hynynen
Publication Date: 2021

Variant appearance in text: APP: V717F
PubMed Link: 33408773
Variant Present in the following documents:
  • Main text
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Much More Than a Cytoskeletal Protein: Physiological and Pathological Functions of the Non-microtubule Binding Region of Tau.

Frontiers In Neurology
R Brandt, NI Trushina, L Bakota
Publication Date: 2020

Variant appearance in text: APP: V717F
PubMed Link: 33193056
Variant Present in the following documents:
  • Main text
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PINK1/PARKIN signalling in neurodegeneration and neuroinflammation.

Acta Neuropathologica Communications
PMJ Quinn, PI Moreira, AF Ambrósio, CH Alves
Publication Date: 2020-11-09

Variant appearance in text: APP: V717F
PubMed Link: 33168089
Variant Present in the following documents:
  • Main text
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Neuron Loss in Alzheimer's Disease: Translation in Transgenic Mouse Models.

International Journal Of Molecular Sciences
O Wirths, S Zampar
Publication Date: 2020-10-30

Variant appearance in text: APP: V717F
PubMed Link: 33143374
Variant Present in the following documents:
  • Main text
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Target Dysbiosis of Gut Microbes as a Future Therapeutic Manipulation in Alzheimer's Disease.

Frontiers In Aging Neuroscience
F Zhu, C Li, F Chu, X Tian, J Zhu
Publication Date: 2020

Variant appearance in text: APP: V717F
PubMed Link: 33132894
Variant Present in the following documents:
  • Main text
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Epigenetic basis of Alzheimer disease.

World Journal Of Biological Chemistry
AC Tecalco-Cruz, JO Ramírez-Jarquín, ME Alvarez-Sánchez, J Zepeda-Cervantes
Publication Date: 2020-09-27

Variant appearance in text: APP: V717F
PubMed Link: 33024518
Variant Present in the following documents:
  • Main text
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Early-Occurring Dendritic Spines Alterations in Mouse Models of Alzheimer's Disease Inform on Primary Causes of Neurodegeneration.

Frontiers In Synaptic Neuroscience
M Ammassari-Teule
Publication Date: 2020

Variant appearance in text: APP: V717F
PubMed Link: 33013348
Variant Present in the following documents:
  • Main text
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Familial Alzheimer's disease mutations at position 22 of the amyloid β-peptide sequence differentially affect synaptic loss, tau phosphorylation and neuronal cell death in an ex vivo system.

Plos One
C Tackenberg, L Kulic, RM Nitsch
Publication Date: 2020

Variant appearance in text: APP: V717F
PubMed Link: 32966331
Variant Present in the following documents:
  • Main text
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Role of Microglia in Modulating Adult Neurogenesis in Health and Neurodegeneration.

International Journal Of Molecular Sciences
M Al-Onaizi, A Al-Khalifah, D Qasem, A ElAli
Publication Date: 2020-09-19

Variant appearance in text: APP: V717F
PubMed Link: 32961703
Variant Present in the following documents:
  • Main text
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Behavioral and neural network abnormalities in human APP transgenic mice resemble those of App knock-in mice and are modulated by familial Alzheimer's disease mutations but not by inhibition of BACE1.

Molecular Neurodegeneration
ECB Johnson, K Ho, GQ Yu, M Das, PE Sanchez, B Djukic, I Lopez, X Yu, M Gill, W Zhang, JT Paz, JJ Palop, L Mucke
Publication Date: 2020-09-14

Variant appearance in text: APP: V717F
PubMed Link: 32921309
Variant Present in the following documents:
  • Main text
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Vaccination Prevented Short-Term Memory Loss, but Deteriorated Long-Term Spatial Memory in Alzheimer's Disease Mice, Independent of Amyloid-β Pathology.

Journal Of Alzheimer'S Disease Reports
K Oberman, L Gouweleeuw, P Hoogerhout, ULM Eisel, E van Riet, RG Schoemaker
Publication Date: 2020-07-23

Variant appearance in text: APP: V717F
PubMed Link: 32904788
Variant Present in the following documents:
  • Main text
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Untangling the origin and function of granulovacuolar degeneration bodies in neurodegenerative proteinopathies.

Acta Neuropathologica Communications
VI Wiersma, JJM Hoozemans, W Scheper
Publication Date: 2020-09-03

Variant appearance in text: APP: V717F
PubMed Link: 32883341
Variant Present in the following documents:
  • Main text
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Sex-dependent effect of APOE on Alzheimer's disease and other age-related neurodegenerative disorders.

Disease Models & Mechanisms
J Gamache, Y Yun, O Chiba-Falek
Publication Date: 2020-08-27

Variant appearance in text: APP: V717F
PubMed Link: 32859588
Variant Present in the following documents:
  • Main text
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The P2X7 Receptor: Central Hub of Brain Diseases.

Frontiers In Molecular Neuroscience
R Andrejew, Á Oliveira-Giacomelli, DE Ribeiro, T Glaser, VF Arnaud-Sampaio, C Lameu, H Ulrich
Publication Date: 2020

Variant appearance in text: APP: V717F
PubMed Link: 32848594
Variant Present in the following documents:
  • Main text
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Chemogenetic attenuation of neuronal activity in the entorhinal cortex reduces Aβ and tau pathology in the hippocampus.

Plos Biology
GA Rodriguez, GM Barrett, KE Duff, SA Hussaini
Publication Date: 2020-08

Variant appearance in text: APP: V717F
PubMed Link: 32822389
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32731849
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32727580
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32714487
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32704352
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32610140
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32581707
Variant Present in the following documents:
  • Main text
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Amyloidosis is associated with thicker myelin and increased oligodendrogenesis in the adult mouse brain.

Journal Of Neuroscience Research
S Ferreira, KA Pitman, S Wang, BS Summers, N Bye, KM Young, CL Cullen
Publication Date: 2020-10

Variant appearance in text: APP: V717F
PubMed Link: 32557778
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32547364
Variant Present in the following documents:
  • Main text
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Tau is not necessary for amyloid-β-induced synaptic and memory impairments.

The Journal Of Clinical Investigation
D Puzzo, EK Argyrousi, A Staniszewski, H Zhang, E Calcagno, E Zuccarello, E Acquarone, M Fa', DD Li Puma, C Grassi, L D'Adamio, NM Kanaan, PE Fraser, O Arancio
Publication Date: 2020-09-01

Variant appearance in text: APP: V717F
PubMed Link: 32544084
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32536852
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32517180
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32414028
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32357548
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32264890
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32256202
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32170138
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32164763
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32110992
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32107408
Variant Present in the following documents:
  • Main text
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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: 2020-06-01

Variant appearance in text: APP: V717F
PubMed Link: 32050773
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32049030
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32029735
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31939705
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31882005
Variant Present in the following documents:
  • 12974_2019_Article_1669.pdf
  • aaaaaMain text
View BVdb publication page



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; V717L
PubMed Link: 31836585
Variant Present in the following documents:
  • Main text
  • MCS003491Coc.pdf
  • supp_mcs.a003491_Supplemental_Material.pdf
  • supp_mcs.a003491_Supplemental_Table_1.xlsx
View BVdb publication page



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
PubMed Link: 31757962
Variant Present in the following documents:
  • 41467_2019_Article_13260.pdf
  • aaaaaMain text
View BVdb publication page



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
PubMed Link: 31727994
Variant Present in the following documents:
  • 41598_2019_Article_53394.pdf
  • aaaaaMain text
View BVdb publication page



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: 2020-02

Variant appearance in text: APP: V717F
PubMed Link: 31669733
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31641049
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31619689
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31583592
Variant Present in the following documents:
  • Main text
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Exosome Determinants of Physiological Aging and Age-Related Neurodegenerative Diseases.

Frontiers In Aging Neuroscience
M D'Anca, C Fenoglio, M Serpente, B Arosio, M Cesari, EA Scarpini, D Galimberti
Publication Date: 2019

Variant appearance in text: APP: V717F
PubMed Link: 31555123
Variant Present in the following documents:
  • Main text
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Perturbed mitochondria-ER contacts in live neurons that model the amyloid pathology of Alzheimer's disease.

Journal Of Cell Science
PV Martino Adami, Z Nichtová, DB Weaver, A Bartok, T Wisniewski, DR Jones, S Do Carmo, EM Castaño, AC Cuello, G Hajnóczky, L Morelli
Publication Date: 2019-10-22

Variant appearance in text: APP: V717F
PubMed Link: 31515277
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 31507412
Variant Present in the following documents:
  • Main text
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Targeting Synaptic Plasticity in Experimental Models of Alzheimer's Disease.

Frontiers In Pharmacology
D Mango, A Saidi, GY Cisale, M Feligioni, M Corbo, R Nisticò
Publication Date: 2019

Variant appearance in text: APP: V717F
PubMed Link: 31379566
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31306129
Variant Present in the following documents:
  • Main text
  • nihms-1059124.pdf
View BVdb publication page



Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications
JS Park, J Lee, ES Jung, MH Kim, IB Kim, H Son, S Kim, S Kim, YM Park, I Mook-Jung, SJ Yu, JH Lee
Publication Date: 2019-07-12

Variant appearance in text: APP: V717F
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx
View BVdb publication page



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
PubMed Link: 31295866
Variant Present in the following documents:
  • Main text
View BVdb publication page



Animal Models of Psychosis in Alzheimer Disease.

The American Journal Of Geriatric Psychiatry : Official Journal Of The American Association For Geriatric Psychiatry
JM Krivinko, J Koppel, A Savonenko, RA Sweet
Publication Date: 2020-01

Variant appearance in text: APP: V717F
PubMed Link: 31278012
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31242408
Variant Present in the following documents:
  • Main text
  • nihms-1532883.pdf
  • NIHMS1532883-supplement-2.pdf
View BVdb publication page



Modeling Alzheimer's disease with human iPS cells: advancements, lessons, and applications.

Neurobiology Of Disease
S Essayan-Perez, B Zhou, AM Nabet, M Wernig, YA Huang
Publication Date: 2019-10

Variant appearance in text: APP: V717F
PubMed Link: 31202913
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31147386
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31105524
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31066320
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 31031598
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31011484
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 30909659
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 30897251
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 30886583
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 30837829
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 30817847
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
PubMed Link: 30804789
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 30795807
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 30767411
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 30711010
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 30678217
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 30670054
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 30667373
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 30657599
Variant Present in the following documents:
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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
PubMed Link: 30636042
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 30627643
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 30605723
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 30572184
Variant Present in the following documents:
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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
PubMed Link: 30528841
Variant Present in the following documents:
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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
PubMed Link: 30506549
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 30486882
Variant Present in the following documents:
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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
PubMed Link: 30483118
Variant Present in the following documents:
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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
PubMed Link: 30481490
Variant Present in the following documents:
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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
PubMed Link: 30471088
Variant Present in the following documents:
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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
PubMed Link: 30409172
Variant Present in the following documents:
  • Main text
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Pharmacological manipulation of cGMP and NO/cGMP in CNS drug discovery.

Nitric Oxide : Biology And Chemistry
MA Hollas, M Ben Aissa, SH Lee, JM Gordon-Blake, GRJ Thatcher
Publication Date: 2019-01-01

Variant appearance in text: APP: V717F
PubMed Link: 30394348
Variant Present in the following documents:
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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
PubMed Link: 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
PubMed Link: 30362042
Variant Present in the following documents:
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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
PubMed Link: 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
PubMed Link: 30283297
Variant Present in the following documents:
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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
PubMed Link: 30280653
Variant Present in the following documents:
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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 -