Variant ID: 14-73640371-A-G

NM_000021.3(PSEN1):c.436A>G;(p.Met146Val)

This variant was identified in 588 publications




Publications:


A Curcumin Analog Exhibits Multiple Biologic Effects on the Pathogenesis of Alzheimer's Disease and Improves Behavior, Inflammation, and β-Amyloid Accumulation in a Mouse Model.

International Journal Of Molecular Sciences
IJ Su, HY Chang, HC Wang, KJ Tsai
Publication Date: 2020-07-30

Variant appearance in text: PSEN1: M146V
PMID: 32751716
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Evaluating Circadian Dysfunction in Mouse Models of Alzheimer's Disease: Where Do We Stand?

Frontiers In Neuroscience
PW Sheehan, ES Musiek
Publication Date: 2020

Variant appearance in text: PS1: M146V
PMID: 32733196
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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: PS1: M146V
PMID: 32727580
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The Role of BMI1 in Late-Onset Sporadic Alzheimer's Disease.

Genes
R Hogan, A Flamier, E Nardini, G Bernier
Publication Date: 2020-07-21

Variant appearance in text: PSEN1: M146V
PMID: 32708145
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POSCAbilities: The Application of the Prion Organotypic Slice Culture Assay to Neurodegenerative Disease Research.

Biomolecules
H Pineau, V Sim
Publication Date: 2020-07-20

Variant appearance in text: PSEN1: M146V
PMID: 32698402
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Steroids and Alzheimer's Disease: Changes Associated with Pathology and Therapeutic Potential.

International Journal Of Molecular Sciences
Y Akwa
Publication Date: 2020-07-07

Variant appearance in text: PS1: M146V
PMID: 32646017
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Early Onset of Sex-Dependent Mitochondrial Deficits in the Cortex of 3xTg Alzheimer's Mice.

Cells
J Djordjevic, S Roy Chowdhury, WM Snow, C Perez, C Cadonic, P Fernyhough, BC Albensi
Publication Date: 2020-06-24

Variant appearance in text: PS1: M146V
PMID: 32599904
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The Accumulation of Tau-Immunoreactive Hippocampal Granules and Corpora Amylacea Implicates Reactive Glia in Tau Pathogenesis during Aging.

Iscience
CM Wander, JH Tseng, S Song, HA Al Housseiny, DS Tart, A Ajit, YY Ian Shih, R Lobrovich, J Song, RB Meeker, DJ Irwin, TJ Cohen
Publication Date: 2020-06-10

Variant appearance in text: PSEN1: M146V
PMID: 32585593
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Application of Genetically Engineered Pigs in Biomedical Research.

Genes
M Hryhorowicz, D Lipiński, S Hryhorowicz, A Nowak-Terpiłowska, N Ryczek, J Zeyland
Publication Date: 2020-06-19

Variant appearance in text: PSEN1: M146V
PMID: 32575461
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In vitro Models of Neurodegenerative Diseases.

Frontiers In Cell And Developmental Biology
A Slanzi, G Iannoto, B Rossi, E Zenaro, G Constantin
Publication Date: 2020

Variant appearance in text: PSEN1: M146V
PMID: 32528949
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Evaluating the Effect of Interleukin-4 in the 3xTg Mouse Model of Alzheimer's Disease.

Frontiers In Neuroscience
DA Dionisio-Santos, A Behrouzi, JA Olschowka, MK O'Banion
Publication Date: 2020

Variant appearance in text: PSEN1: M146V
PMID: 32528242
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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: PSEN1: M146V
PMID: 32517180
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Young blood plasma reduces Alzheimer's disease-like brain pathologies and ameliorates cognitive impairment in 3×Tg-AD mice.

Alzheimer'S Research & Therapy
Y Zhao, R Qian, J Zhang, F Liu, K Iqbal, CL Dai, CX Gong
Publication Date: 2020-06-08

Variant appearance in text: PS1: M146V
PMID: 32513253
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Transcriptomics in Alzheimer's Disease: Aspects and Challenges.

International Journal Of Molecular Sciences
E Bagyinszky, VV Giau, SA An
Publication Date: 2020-05-15

Variant appearance in text: PSEN1: M146V
PMID: 32429229
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The Transcription Factor EB Reduces the Intraneuronal Accumulation of the Beta-Secretase-Derived APP Fragment C99 in Cellular and Mouse AD Models.

Cells
A Bécot, R Pardossi-Piquard, A Bourgeois, E Duplan, Q Xiao, A Diwan, JM Lee, I Lauritzen
Publication Date: 2020-05-12

Variant appearance in text: PS1: M146V
PMID: 32408680
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Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk.

Brain Communications
DA Salih, S Bayram, S Guelfi, RH Reynolds, M Shoai, M Ryten, JW Brenton, D Zhang, M Matarin, JA Botia, R Shah, KJ Brookes, T Guetta-Baranes, K Morgan, E Bellou, DM Cummings, V Escott-Price, J Hardy
Publication Date: 2019

Variant appearance in text: PSEN1: M146V
PMID: 32274467
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A Preliminary Study of Cu Exposure Effects upon Alzheimer's Amyloid Pathology.

Biomolecules
A Pilozzi, Z Yu, I Carreras, K Cormier, D Hartley, J Rogers, A Dedeoglu, X Huang
Publication Date: 2020-03-06

Variant appearance in text: PS1: M146V
PMID: 32155778
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Discovery of suppressors of CRMP2 phosphorylation reveals compounds that mimic the behavioral effects of lithium on amphetamine-induced hyperlocomotion.

Translational Psychiatry
WN Zhao, BTD Tobe, ND Udeshi, LL Xuan, CD Pernia, DP Zolg, AJ Roberts, D Mani, SR Blumenthal, I Kurtser, D Patnaik, I Gaisina, J Bishop, SD Sheridan, J Lalonde, SA Carr, EY Snyder, SJ Haggarty
Publication Date: 2020-02-24

Variant appearance in text: PSEN1: M146V
PMID: 32094324
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Loss of miR-369 Promotes Tau Phosphorylation by Targeting the Fyn and Serine/Threonine-Protein Kinase 2 Signaling Pathways in Alzheimer's Disease Mice.

Frontiers In Aging Neuroscience
X Yao, X Xian, M Fang, S Fan, W Li
Publication Date: 2019

Variant appearance in text: PSEN1: M146V
PMID: 32082134
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"Amyloid-beta accumulation cycle" as a prevention and/or therapy target for Alzheimer's disease.

Aging Cell
CV Rao, AS Asch, DJJ Carr, HY Yamada
Publication Date: 2020-01-25

Variant appearance in text: PSEN1: M146V
PMID: 31981470
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The epichaperome is a mediator of toxic hippocampal stress and leads to protein connectivity-based dysfunction.

Nature Communications
MC Inda, S Joshi, T Wang, A Bolaender, S Gandu, J Koren Iii, AY Che, T Taldone, P Yan, W Sun, M Uddin, P Panchal, M Riolo, S Shah, A Barlas, K Xu, LYL Chan, A Gruzinova, S Kishinevsky, L Studer, V Fossati, SA Noggle, JR White, E de Stanchina, S Sequeira, KH Anthoney, JW Steele, K Manova-Todorova, S Patil, MP Dunphy, N Pillarsetty, AC Pereira, H Erdjument-Bromage, TA Neubert, A Rodina, SD Ginsberg, N De Marco Garcia, W Luo, G Chiosis
Publication Date: 2020-01-16

Variant appearance in text: PS1: M146V
PMID: 31949159
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Quercetin in Animal Models of Alzheimer's Disease: A Systematic Review of Preclinical Studies.

International Journal Of Molecular Sciences
XW Zhang, JY Chen, D Ouyang, JH Lu
Publication Date: 2020-01-13

Variant appearance in text: PS1: M146V
PMID: 31941000
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Perturbations of Ubiquitin-Proteasome-Mediated Proteolysis in Aging and Alzheimer's Disease.

Frontiers In Aging Neuroscience
AN Hegde, SG Smith, LM Duke, A Pourquoi, S Vaz
Publication Date: 2019

Variant appearance in text: PS1: M146V
PMID: 31866849
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A small molecule transcription factor EB activator ameliorates beta-amyloid precursor protein and Tau pathology in Alzheimer's disease models.

Aging Cell
JX Song, S Malampati, Y Zeng, SSK Durairajan, CB Yang, BC Tong, A Iyaswamy, WB Shang, SG Sreenivasmurthy, Z Zhu, KH Cheung, JH Lu, C Tang, N Xu, M Li
Publication Date: 2019-12-19

Variant appearance in text: PSEN1: M146V
PMID: 31858697
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Targeting γ-secretase triggers the selective enrichment of oligomeric APP-CTFs in brain extracellular vesicles from Alzheimer cell and mouse models.

Translational Neurodegeneration
I Lauritzen, A Bécot, A Bourgeois, R Pardossi-Piquard, MG Biferi, M Barkats, F Checler
Publication Date: 2019

Variant appearance in text: PS1: M146V
PMID: 31827783
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Inhibition of AMD-Like Pathology With a Neurotrophic Compound in Aged Rats and 3xTg-AD Mice.

Frontiers In Aging Neuroscience
Y Liu, W Wei, N Baazaoui, F Liu, K Iqbal
Publication Date: 2019

Variant appearance in text: PS1: M146V
PMID: 31803044
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Mechanisms of hyperexcitability in Alzheimer's disease hiPSC-derived neurons and cerebral organoids vs isogenic controls.

Elife
S Ghatak, N Dolatabadi, D Trudler, X Zhang, Y Wu, M Mohata, R Ambasudhan, M Talantova, SA Lipton
Publication Date: 2019-11-29

Variant appearance in text: PS1: M146V
PMID: 31782729
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Age-Related Intraneuronal Aggregation of Amyloid-β in Endosomes, Mitochondria, Autophagosomes, and Lysosomes.

Journal Of Alzheimer'S Disease : Jad
GJ Brewer, RA Herrera, S Philipp, J Sosna, JM Reyes-Ruiz, CG Glabe
Publication Date: 2019-11-18

Variant appearance in text: PS1: M146V
PMID: 31771065
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Alcohol drinking exacerbates neural and behavioral pathology in the 3xTg-AD mouse model of Alzheimer's disease.

International Review Of Neurobiology
JL Hoffman, S Faccidomo, M Kim, SM Taylor, AE Agoglia, AM May, EN Smith, LC Wong, CW Hodge
Publication Date: 2019

Variant appearance in text: PS1: M146V
PMID: 31733664
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Retinal thinning of inner sub-layers is associated with cortical atrophy in a mouse model of Alzheimer's disease: a longitudinal multimodal in vivo study.

Alzheimer'S Research & Therapy
S Chiquita, EJ Campos, J Castelhano, M Ribeiro, J Sereno, PI Moreira, M Castelo-Branco, AF Ambrósio
Publication Date: 2019-11-13

Variant appearance in text: PS1: M146V
PMID: 31722748
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Corticotropin releasing factor-binding protein (CRF-BP) as a potential new therapeutic target in Alzheimer's disease and stress disorders.

Translational Psychiatry
D Vandael, NV Gounko
Publication Date: 2019-10-22

Variant appearance in text: PS1: M146V
PMID: 31641098
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Impact of Chronic Risperidone Use on Behavior and Survival of 3xTg-AD Mice Model of Alzheimer's Disease and Mice With Normal Aging.

Frontiers In Pharmacology
V Torres-Lista, S López-Pousa, L Giménez-Llort
Publication Date: 2019

Variant appearance in text: PS1: M146V
PMID: 31607916
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Effects of the Novel IDO Inhibitor DWG-1036 on the Behavior of Male and Female 3xTg-AD Mice.

Frontiers In Pharmacology
E Fertan, KRJ Stover, MG Brant, PM Stafford, B Kelly, E Diez-Cecilia, AA Wong, DF Weaver, RE Brown
Publication Date: 2019

Variant appearance in text: PS1: M146V
PMID: 31607909
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Risk Factors for Alzheimer's Disease: Focus on Stress.

Frontiers In Pharmacology
A Caruso, F Nicoletti, A Gaetano, S Scaccianoce
Publication Date: 2019

Variant appearance in text: PSEN1: M146V
PMID: 31551781
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Neuronal Sigma-1 Receptors: Signaling Functions and Protective Roles in Neurodegenerative Diseases.

Frontiers In Neuroscience
DA Ryskamp, S Korban, V Zhemkov, N Kraskovskaya, I Bezprozvanny
Publication Date: 2019

Variant appearance in text: PSEN1: M146V
PMID: 31551669
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Presenilin 1 Regulates [Ca2+]i and Mitochondria/ER Interaction in Cultured Rat Hippocampal Neurons.

Oxidative Medicine And Cellular Longevity
E Korkotian, A Meshcheriakova, M Segal
Publication Date: 2019

Variant appearance in text: PS1: M146V
PMID: 31467635
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Differential Effects of Extracellular Vesicles of Lineage-Specific Human Pluripotent Stem Cells on the Cellular Behaviors of Isogenic Cortical Spheroids.

Cells
M Marzano, J Bejoy, MR Cheerathodi, L Sun, SB York, J Zhao, T Kanekiyo, G Bu, DG Meckes, Y Li
Publication Date: 2019-08-28

Variant appearance in text: PS1: M146V
PMID: 31466320
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Increased expression of heme-binding protein 1 early in Alzheimer's disease is linked to neurotoxicity.

Elife
O Yagensky, M Kohansal-Nodehi, S Gunaseelan, T Rabe, S Zafar, I Zerr, W Härtig, H Urlaub, JJ Chua
Publication Date: 2019-08-27

Variant appearance in text: PSEN1: M146V
PMID: 31453805
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Role of miRNAs in Alzheimer's Disease and Possible Fields of Application.

International Journal Of Molecular Sciences
S Silvestro, P Bramanti, E Mazzon
Publication Date: 2019-08-15

Variant appearance in text: PSEN1: M146V
PMID: 31443326
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Traditional Oriental Medicines and Alzheimer's Disease.

Aging And Disease
SG Jeon, EJ Song, D Lee, J Park, Y Nam, JI Kim, M Moon
Publication Date: 2019-04

Variant appearance in text: PSEN1: M146V
PMID: 31435482
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Blockade of α4 integrins reduces leukocyte-endothelial interactions in cerebral vessels and improves memory in a mouse model of Alzheimer's disease.

Scientific Reports
E Pietronigro, E Zenaro, VD Bianca, S Dusi, E Terrabuio, G Iannoto, A Slanzi, S Ghasemi, R Nagarajan, G Piacentino, G Tosadori, B Rossi, G Constantin
Publication Date: 2019-08-19

Variant appearance in text: PS1: M146V
PMID: 31427644
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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: PSEN1: M146V
PMID: 31306129
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Intersection of pathological tau and microglia at the synapse.

Acta Neuropathologica Communications
T Vogels, AN Murgoci, T Hromádka
Publication Date: 2019-07-05

Variant appearance in text: PS1: M146V
PMID: 31277708
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Amyloid-beta impairs insulin signaling by accelerating autophagy-lysosomal degradation of LRP-1 and IR-β in blood-brain barrier endothelial cells in vitro and in 3XTg-AD mice.

Molecular And Cellular Neurosciences
CC Gali, E Fanaee-Danesh, M Zandl-Lang, NM Albrecher, C Tam-Amersdorfer, A Stracke, V Sachdev, F Reichmann, Y Sun, A Avdili, M Reiter, D Kratky, P Holzer, A Lass, KK Kandimalla, U Panzenboeck
Publication Date: 2019-09

Variant appearance in text: PS1: M146V
PMID: 31276749
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Astrocyte Function Is Affected by Aging and Not Alzheimer's Disease: A Preliminary Investigation in Hippocampi of 3xTg-AD Mice.

Frontiers In Pharmacology
MR Bronzuoli, R Facchinetti, M Valenza, T Cassano, L Steardo, C Scuderi
Publication Date: 2019

Variant appearance in text: PS1: M146V
PMID: 31244658
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Preventive Effect of Quercetin in a Triple Transgenic Alzheimer's Disease Mice Model.

Molecules (Basel, Switzerland)
PC Paula, SG Angelica Maria, CH Luis, CG Gloria Patricia
Publication Date: 2019-06-20

Variant appearance in text: PS1: M146V
PMID: 31226738
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Deficits in Enrichment-Dependent Neurogenesis and Enhanced Anxiety Behaviors Mediated by Expression of Alzheimer's Disease-Linked Ps1 Variants Are Rescued by Microglial Depletion.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
S Ortega-Martinez, N Palla, X Zhang, E Lipman, SS Sisodia
Publication Date: 2019-08-21

Variant appearance in text: PS1: M146V
PMID: 31217332
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Bifunctional Fluorescent/Raman Nanoprobe for the Early Detection of Amyloid.

Scientific Reports
Y Xia, P Padmanabhan, S Sarangapani, B Gulyás, M Vadakke Matham
Publication Date: 2019-06-11

Variant appearance in text: PSEN1: M146V
PMID: 31186449
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α-synuclein in the pathophysiology of Alzheimer's disease.

Molecular Neurodegeneration
D Twohig, HM Nielsen
Publication Date: 2019-06-11

Variant appearance in text: PS1: M146V
PMID: 31186026
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Pharmacokinetic parameters and mechanism of action of an efficient anti-Aβ single chain antibody fragment.

Plos One
G Esquerda-Canals, J Martí-Clúa, S Villegas
Publication Date: 2019

Variant appearance in text: PS1: M146V
PMID: 31150495
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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: PSEN1: M146V
PMID: 31066320
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High-throughput metabolomics and ingenuity pathway approach reveals the pharmacological effect and targets of Ginsenoside Rg1 in Alzheimer's disease mice.

Scientific Reports
G Li, N Zhang, F Geng, G Liu, B Liu, X Lei, G Li, X Chen
Publication Date: 2019-05-07

Variant appearance in text: PS1: M146V
PMID: 31065079
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The Role of Astrocytes in the Central Nervous System Focused on BK Channel and Heme Oxygenase Metabolites: A Review.

Antioxidants (Basel, Switzerland)
Y Kim, J Park, YK Choi
Publication Date: 2019-05-05

Variant appearance in text: PS1: M146V
PMID: 31060341
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18F-FDG-PET in Mouse Models of Alzheimer's Disease.

Frontiers In Medicine
C Bouter, Y Bouter
Publication Date: 2019

Variant appearance in text: PSEN1: M146V
PMID: 31058151
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Lysosomal Dysfunction in Down Syndrome Is APP-Dependent and Mediated by APP-βCTF (C99).

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Y Jiang, Y Sato, E Im, M Berg, M Bordi, S Darji, A Kumar, PS Mohan, U Bandyopadhyay, A Diaz, AM Cuervo, RA Nixon
Publication Date: 2019-07-03

Variant appearance in text: PS1: M146V
PMID: 31043483
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Inflammasomes in neuroinflammatory and neurodegenerative diseases.

Embo Molecular Medicine
S Voet, S Srinivasan, M Lamkanfi, G van Loo
Publication Date: 2019-06

Variant appearance in text: PS1: M146V
PMID: 31015277
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Affibody-Mediated Sequestration of Amyloid β Demonstrates Preventive Efficacy in a Transgenic Alzheimer's Disease Mouse Model.

Frontiers In Aging Neuroscience
A Boutajangout, H Lindberg, A Awwad, A Paul, R Baitalmal, I Almokyad, I Höidén-Guthenberg, E Gunneriusson, FY Frejd, T Härd, J Löfblom, S Ståhl, T Wisniewski
Publication Date: 2019

Variant appearance in text: PS1: M146V
PMID: 30967771
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Early Stage Alterations in White Matter and Decreased Functional Interhemispheric Hippocampal Connectivity in the 3xTg Mouse Model of Alzheimer's Disease.

Frontiers In Aging Neuroscience
FAM Manno, AG Isla, SHC Manno, I Ahmed, SH Cheng, FA Barrios, C Lau
Publication Date: 2019

Variant appearance in text: PS1: M146V
PMID: 30967770
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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: PS1: M146V
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: PSEN1: M146V
PMID: 30897251
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The Use of Pluripotent Stem Cell-Derived Organoids to Study Extracellular Matrix Development during Neural Degeneration.

Cells
Y Yan, J Bejoy, M Marzano, Y Li
Publication Date: 2019-03-14

Variant appearance in text: PS1: M146V
PMID: 30875781
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Synaptopodin Deficiency Ameliorates Symptoms in the 3xTg Mouse Model of Alzheimer's Disease.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
E Aloni, E Oni-Biton, M Tsoory, DH Moallem, M Segal
Publication Date: 2019-05-15

Variant appearance in text: PS1: M146V
PMID: 30872324
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Amyloid β oligomers suppress excitatory transmitter release via presynaptic depletion of phosphatidylinositol-4,5-bisphosphate.

Nature Communications
Y He, M Wei, Y Wu, H Qin, W Li, X Ma, J Cheng, J Ren, Y Shen, Z Chen, B Sun, FD Huang, Y Shen, YD Zhou
Publication Date: 2019-03-13

Variant appearance in text: PS1: M146V
PMID: 30867420
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Amelioration of Alzheimer's disease pathology and cognitive deficits by immunomodulatory agents in animal models of Alzheimer's disease.

Neural Regeneration Research
B Martinez, PV Peplow
Publication Date: 2019-07

Variant appearance in text: PS1: M146V
PMID: 30804241
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Neurosteroids and oxysterols as potential therapeutic agents for glaucoma and Alzheimer's disease.

Neuropsychiatry
M Ishikawa, T Yoshitomi, DF Covey, CF Zorumski, Y Izumi
Publication Date: 2018

Variant appearance in text: PS1: M146V
PMID: 30774720
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Repeated cold exposures protect a mouse model of Alzheimer's disease against cold-induced tau phosphorylation.

Molecular Metabolism
M Tournissac, P Bourassa, RD Martinez-Cano, TM Vu, SS Hébert, E Planel, F Calon
Publication Date: 2019-04

Variant appearance in text: PS1: M146V
PMID: 30770297
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Full recovery of the Alzheimer's disease phenotype by gain of function of vacuolar protein sorting 35.

Molecular Psychiatry
JG Li, J Chiu, D Praticò
Publication Date: 2019-02-07

Variant appearance in text: PS1: M146V
PMID: 30733594
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Age- and AD-related redox state of NADH in subcellular compartments by fluorescence lifetime imaging microscopy.

Geroscience
Y Dong, MA Digman, GJ Brewer
Publication Date: 2019-02

Variant appearance in text: PS1: M146V
PMID: 30729413
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Modulating Effect of Diet on Alzheimer's Disease.

Diseases (Basel, Switzerland)
P Fernández-Sanz, D Ruiz-Gabarre, V García-Escudero
Publication Date: 2019-01-26

Variant appearance in text: PS1: M146V
PMID: 30691140
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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: PSEN1: M146V
PMID: 30678217
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Mitochondrial dysfunction in Alzheimer's disease: Role in pathogenesis and novel therapeutic opportunities.

British Journal Of Pharmacology
JM Perez Ortiz, RH Swerdlow
Publication Date: 2019-09

Variant appearance in text: PSEN1: M146V
PMID: 30675901
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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: PS1: M146V
PMID: 30670054
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Regulation of apoptosis in health and disease: the balancing act of BCL-2 family proteins.

Nature Reviews. Molecular Cell Biology
R Singh, A Letai, K Sarosiek
Publication Date: 2019-03

Variant appearance in text: PSEN1: M146V
PMID: 30655609
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CREB signals as PBMC-based biomarkers of cognitive dysfunction: A novel perspective of the brain-immune axis.

Brain, Behavior, And Immunity
N Bartolotti, O Lazarov
Publication Date: 2019-05

Variant appearance in text: PS1: M146V
PMID: 30641141
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Dissociable cognitive impairments in two strains of transgenic Alzheimer's disease mice revealed by a battery of object-based tests.

Scientific Reports
SD Creighton, AL Mendell, D Palmer, BE Kalisch, NJ MacLusky, VF Prado, MAM Prado, BD Winters
Publication Date: 2019-01-11

Variant appearance in text: PS1: M146V
PMID: 30635592
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Gene expression, proteome and calcium signaling alterations in immortalized hippocampal astrocytes from an Alzheimer's disease mouse model.

Cell Death & Disease
F Rocchio, L Tapella, M Manfredi, M Chisari, F Ronco, FA Ruffinatti, E Conte, PL Canonico, MA Sortino, M Grilli, E Marengo, AA Genazzani, D Lim
Publication Date: 2019-01-10

Variant appearance in text: PS1: M146V
PMID: 30631041
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Peripheral adaptive immunity of the triple transgenic mouse model of Alzheimer's disease.

Journal Of Neuroinflammation
I St-Amour, CR Bosoi, I Paré, PM Ignatius Arokia Doss, M Rangachari, SS Hébert, R Bazin, F Calon
Publication Date: 2019-01-05

Variant appearance in text: PS1: M146V
PMID: 30611289
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Pridopidine stabilizes mushroom spines in mouse models of Alzheimer's disease by acting on the sigma-1 receptor.

Neurobiology Of Disease
D Ryskamp, L Wu, J Wu, D Kim, G Rammes, M Geva, M Hayden, I Bezprozvanny
Publication Date: 2019-04

Variant appearance in text: PS1: M146V
PMID: 30594810
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Regenerative Effects of Heme Oxygenase Metabolites on Neuroinflammatory Diseases.

International Journal Of Molecular Sciences
H Lee, YK Choi
Publication Date: 2018-12-25

Variant appearance in text: PS1: M146V
PMID: 30585210
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Dietary intake of branched-chain amino acids in a mouse model of Alzheimer's disease: Effects on survival, behavior, and neuropathology.

Alzheimer'S & Dementia (New York, N. Y.)
M Tournissac, M Vandal, C Tremblay, P Bourassa, S Vancassel, V Emond, A Gangloff, F Calon
Publication Date: 2018

Variant appearance in text: PS1: M146V
PMID: 30560200
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Effects of rising amyloidβ levels on hippocampal synaptic transmission, microglial response and cognition in APPSwe/PSEN1M146V transgenic mice.

Ebiomedicine
E Medawar, TA Benway, W Liu, TA Hanan, P Haslehurst, OT James, K Yap, L Muessig, F Moroni, MA Nahaboo Solim, G Baidildinova, R Wang, JC Richardson, F Cacucci, DA Salih, DM Cummings, FA Edwards
Publication Date: 2019-01

Variant appearance in text: PSEN1: M146V
PMID: 30555043
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Spatiotemporal activation of the C/EBPβ/δ-secretase axis regulates the pathogenesis of Alzheimer's disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
H Wang, X Liu, S Chen, K Ye
Publication Date: 2018-12-26

Variant appearance in text: PS1: M146V
PMID: 30530690
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Administration of Momordica charantia Enhances the Neuroprotection and Reduces the Side Effects of LiCl in the Treatment of Alzheimer's Disease.

Nutrients
HJ Huang, SL Chen, YT Chang, JH Chyuan, HM Hsieh-Li
Publication Date: 2018-12-03

Variant appearance in text: PS1: M146V
PMID: 30513908
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Bee venom phospholipase A2 ameliorates Alzheimer's disease pathology in Aβ vaccination treatment without inducing neuro-inflammation in a 3xTg-AD mouse model.

Scientific Reports
H Baek, CJ Lee, DB Choi, NS Kim, YS Kim, YJ Ye, YS Kim, JS Kim, I Shim, H Bae
Publication Date: 2018-11-26

Variant appearance in text: PS1: M146V
PMID: 30478329
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The zebrafish orthologue of familial Alzheimer's disease gene PRESENILIN 2 is required for normal adult melanotic skin pigmentation.

Plos One
H Jiang, M Newman, M Lardelli
Publication Date: 2018

Variant appearance in text: PSEN1: M146V
PMID: 30359395
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L-Norvaline Reverses Cognitive Decline and Synaptic Loss in a Murine Model of Alzheimer's Disease.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
B Polis, KD Srikanth, E Elliott, H Gil-Henn, AO Samson
Publication Date: 2018-10

Variant appearance in text: PS1: M146V
PMID: 30288668
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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: PSEN1: M146V
PMID: 30283297
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Mini-GAGR, an intranasally applied polysaccharide, activates the neuronal Nrf2-mediated antioxidant defense system.

The Journal Of Biological Chemistry
K Murphy, K Llewellyn, S Wakser, J Pontasch, N Samanich, M Flemer, K Hensley, DS Kim, J Park
Publication Date: 2018-11-23

Variant appearance in text: PS1: M146V
PMID: 30282635
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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: PSEN1: M146V
PMID: 30280653
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Can Arginase Inhibitors Be the Answer to Therapeutic Challenges in Alzheimer's Disease?

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
SV Ovsepian, VB O'Leary
Publication Date: 2018-10

Variant appearance in text: PS1: M146V
PMID: 30242774
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A role for APP in Wnt signalling links synapse loss with β-amyloid production.

Translational Psychiatry
C Elliott, AI Rojo, E Ribe, M Broadstock, W Xia, P Morin, M Semenov, G Baillie, A Cuadrado, R Al-Shawi, CG Ballard, P Simons, R Killick
Publication Date: 2018-09-20

Variant appearance in text: PSEN1: M146V
PMID: 30232325
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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: PSEN1: M146V
PMID: 30225775
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Role of Presenilin in Mitochondrial Oxidative Stress and Neurodegeneration in Caenorhabditis elegans.

Antioxidants (Basel, Switzerland)
S Sarasija, KR Norman
Publication Date: 2018-08-24

Variant appearance in text: PSEN1: M146V
PMID: 30149498
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000261970.3 c.436A>G p.Met146Val missense_variant 5/11 -
ENST00000324501.5 c.436A>G p.Met146Val missense_variant 5/12 -
ENST00000344094.3 c.436A>G p.Met146Val missense_variant 5/13 -
ENST00000357710.4 c.424A>G p.Met142Val missense_variant 5/12 -
ENST00000394157.3 c.436A>G p.Met146Val missense_variant 5/5 -
ENST00000394164.1 c.424A>G p.Met142Val missense_variant 5/12 -
ENST00000406768.1 c.160A>G p.Met54Val missense_variant 3/10 -
ENST00000553719.1 c.424A>G p.Met142Val missense_variant 5/5 -
ENST00000553855.1 c.436A>G p.Met146Val missense_variant,NMD_transcript_variant 3/10 -
ENST00000555254.1 c.436A>G p.Met146Val missense_variant 5/5 -
ENST00000555386.1 c.424A>G p.Met142Val missense_variant,NMD_transcript_variant 3/11 -
ENST00000557511.1 c.436A>G p.Met146Val missense_variant 3/9 -
ENST00000559361.1 c.*380A>G - 3_prime_UTR_variant,NMD_transcript_variant 6/6 -
NM_000021.4 c.436A>G p.Met146Val missense_variant 5/12 -
NM_007318.3 c.424A>G p.Met142Val missense_variant 5/12 -