Variant ID: 14-73640371-A-G

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

This variant was identified in 621 publications




Publications:


Target Molecules of STIM Proteins in the Central Nervous System.

Frontiers In Molecular Neuroscience
K Serwach, J Gruszczynska-Biegala
Publication Date: 2020

Variant appearance in text: PS1: M146V
PubMed Link: 33424550
Variant Present in the following documents:
  • Main text
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Dysregulated Plasma Membrane Turnover Underlying Dendritic Pathology in Neurodegenerative Diseases.

Frontiers In Cellular Neuroscience
CG Chung, SS Park, JH Park, SB Lee
Publication Date: 2020

Variant appearance in text: PS1: M146V
PubMed Link: 33192307
Variant Present in the following documents:
  • Main text
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Modeling neurodegenerative diseases with cerebral organoids and other three-dimensional culture systems: focus on Alzheimer's disease.

Stem Cell Reviews And Reports
L Venkataraman, SR Fair, CA McElroy, ME Hester, H Fu
Publication Date: 2020-11-12

Variant appearance in text: PSEN1: M146V
PubMed Link: 33180261
Variant Present in the following documents:
  • Main text
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An Overview of Astrocyte Responses in Genetically Induced Alzheimer's Disease Mouse Models.

Cells
F Spanos, SA Liddelow
Publication Date: 2020-11-04

Variant appearance in text: PSEN1: M146V
PubMed Link: 33158189
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: PS1: M146V
PubMed Link: 33143374
Variant Present in the following documents:
  • Main text
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Mental Disorders Linked to Crosstalk between The Gut Microbiome and The Brain.

Experimental Neurobiology
TY Choi, YP Choi, JW Koo
Publication Date: 2020-11-03

Variant appearance in text: PSEN1: M146V
PubMed Link: 33139585
Variant Present in the following documents:
  • Main text
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A Novel NIR-FRET Biosensor for Reporting PS/γ-Secretase Activity in Live Cells.

Sensors (Basel, Switzerland)
MC Houser, SS Hou, F Perrin, Y Turchyna, BJ Bacskai, O Berezovska, M Maesako
Publication Date: 2020-10-22

Variant appearance in text: PS1: M146V
PubMed Link: 33105735
Variant Present in the following documents:
  • Main text
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CRISPR-Cas9: A Promising Genome Editing Therapeutic Tool for Alzheimer's Disease-A Narrative Review.

Neurology And Therapy
NC Barman, NM Khan, M Islam, Z Nain, RK Roy, A Haque, SK Barman
Publication Date: 2020-12

Variant appearance in text: PSEN1: Met146Val
PubMed Link: 33089409
Variant Present in the following documents:
  • Main text
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Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer's disease models and human brains.

Acta Neuropathologica
L Vaillant-Beuchot, A Mary, R Pardossi-Piquard, A Bourgeois, I Lauritzen, F Eysert, PF Kinoshita, J Cazareth, C Badot, K Fragaki, R Bussiere, C Martin, R Mary, C Bauer, S Pagnotta, V Paquis-Flucklinger, V Buée-Scherrer, L Buée, S Lacas-Gervais, F Checler, M Chami
Publication Date: 2020-10-20

Variant appearance in text: PS1: M146V
PubMed Link: 33079262
Variant Present in the following documents:
  • Main text
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The Cell Biology of Tau Secretion.

Frontiers In Molecular Neuroscience
M Merezhko, RL Uronen, HJ Huttunen
Publication Date: 2020

Variant appearance in text: PSEN1: M146V
PubMed Link: 33071756
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: PS1: M146V
PubMed Link: 33024518
Variant Present in the following documents:
  • Main text
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Cognitive Impairment in the 3xTg-AD Mouse Model of Alzheimer's Disease is Affected by Aβ-ImmunoTherapy and Cognitive Stimulation.

Pharmaceutics
AR Roda, G Esquerda-Canals, J Martí-Clúa, S Villegas
Publication Date: 2020-10-02

Variant appearance in text: PS1: M146V
PubMed Link: 33023109
Variant Present in the following documents:
  • Main text
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Traumatic Brain Injury: Oxidative Stress and Novel Anti-Oxidants Such as Mitoquinone and Edaravone.

Antioxidants (Basel, Switzerland)
H Ismail, Z Shakkour, M Tabet, S Abdelhady, A Kobaisi, R Abedi, L Nasrallah, G Pintus, Y Al-Dhaheri, S Mondello, R El-Khoury, AH Eid, F Kobeissy, J Salameh
Publication Date: 2020-10-01

Variant appearance in text: PS1: M146V
PubMed Link: 33019512
Variant Present in the following documents:
  • Main text
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Rodent Models of Amyloid-Beta Feature of Alzheimer's Disease: Development and Potential Treatment Implications.

Aging And Disease
CH Poon, Y Wang, ML Fung, C Zhang, LW Lim
Publication Date: 2020-10

Variant appearance in text: PS1: M146V
PubMed Link: 33014535
Variant Present in the following documents:
  • Main text
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Presenilin1 familial Alzheimer disease mutants inactivate EFNB1- and BDNF-dependent neuroprotection against excitotoxicity by affecting neuroprotective complexes of N-methyl-d-aspartate receptor.

Brain Communications
M Al Rahim, Y Yoon, C Dimovasili, Z Shao, Q Huang, E Zhang, N Kezunovic, L Chen, A Schaffner, GW Huntley, I Ubarretxena-Belandia, A Georgakopoulos, NK Robakis
Publication Date: 2020

Variant appearance in text: PS1: M146V
PubMed Link: 33005890
Variant Present in the following documents:
  • Main text
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Presenilin-2 and Calcium Handling: Molecules, Organelles, Cells and Brain Networks.

Cells
P Pizzo, E Basso, R Filadi, E Greotti, A Leparulo, D Pendin, N Redolfi, M Rossini, N Vajente, T Pozzan, C Fasolato
Publication Date: 2020-09-25

Variant appearance in text: PS1: M146V
PubMed Link: 32992716
Variant Present in the following documents:
  • Main text
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Genetics of dementia: insights from Latin America.

Dementia & Neuropsychologia
C Ramos, D Aguillon, C Cordano, F Lopera
Publication Date: 2020

Variant appearance in text: PSEN1: M146V
PubMed Link: 32973976
Variant Present in the following documents:
  • Main text
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Both Amyloid-β Peptide and Tau Protein Are Affected by an Anti-Amyloid-β Antibody Fragment in Elderly 3xTg-AD Mice.

International Journal Of Molecular Sciences
AR Roda, L Montoliu-Gaya, G Serra-Mir, S Villegas
Publication Date: 2020-09-10

Variant appearance in text: PS1: M146V
PubMed Link: 32927795
Variant Present in the following documents:
  • Main text
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Brain region-specific lipid alterations in the PLB4 hBACE1 knock-in mouse model of Alzheimer's disease.

Lipids In Health And Disease
M Dey, FJ Gunn-Moore, B Platt, TK Smith
Publication Date: 2020-08-31

Variant appearance in text: PSEN1: M146V
PubMed Link: 32867761
Variant Present in the following documents:
  • Main text
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The Alzheimer's disease-associated C99 fragment of APP regulates cellular cholesterol trafficking.

The Embo Journal
J Montesinos, M Pera, D Larrea, C Guardia-Laguarta, RR Agrawal, KR Velasco, TD Yun, IG Stavrovskaya, Y Xu, SY Koo, AM Snead, AA Sproul, E Area-Gomez
Publication Date: 2020-10-15

Variant appearance in text: PSEN1: M146V
PubMed Link: 32865299
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: PSEN1: M146V
PubMed Link: 32859588
Variant Present in the following documents:
  • Main text
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Neuroprotective effects of p62(SQSTM1)-engineered lactic acid bacteria in Alzheimer's disease: a pre-clinical study.

Aging
V Cecarini, L Bonfili, O Gogoi, S Lawrence, FM Venanzi, V Azevedo, P Mancha-Agresti, MM Drumond, G Rossi, S Berardi, L Galosi, M Cuccioloni, M Angeletti, JS Suchodolski, R Pilla, JA Lidbury, AM Eleuteri
Publication Date: 2020-08-28

Variant appearance in text: PSEN1: M146V
PubMed Link: 32855357
Variant Present in the following documents:
  • Main text
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Prenatal to early postnatal neurotrophic treatment prevents Alzheimer-like behavior and pathology in mice.

Alzheimer'S Research & Therapy
W Wei, Y Wang, Y Liu, CL Dai, YC Tung, F Liu, K Iqbal
Publication Date: 2020-08-27

Variant appearance in text: PS1: M146V
PubMed Link: 32854771
Variant Present in the following documents:
  • Main text
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Gut dysbiosis contributes to amyloid pathology, associated with C/EBPβ/AEP signaling activation in Alzheimer's disease mouse model.

Science Advances
C Chen, EH Ahn, SS Kang, X Liu, A Alam, K Ye
Publication Date: 2020-07

Variant appearance in text: PSEN1: M146V
PubMed Link: 32832679
Variant Present in the following documents:
  • Main text
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Cognitive Function Improvement in Mouse Model of Alzheimer's Disease Following Transcranial Direct Current Stimulation.

Brain Sciences
WI Kim, JY Han, MK Song, HK Park, J Jo
Publication Date: 2020-08-12

Variant appearance in text: PS1: M146V
PubMed Link: 32806774
Variant Present in the following documents:
  • Main text
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Artemisinin Improved Neuronal Functions in Alzheimer's Disease Animal Model 3xtg Mice and Neuronal Cells via Stimulating the ERK/CREB Signaling Pathway.

Aging And Disease
X Zhao, S Li, U Gaur, W Zheng
Publication Date: 2020-07

Variant appearance in text: PS1: M146V
PubMed Link: 32765947
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32751716
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32733196
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: PS1: M146V
PubMed Link: 32727580
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32708145
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32698402
Variant Present in the following documents:
  • Main text
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Neurodegeneration of Trigeminal Mesencephalic Neurons by the Tooth Loss Triggers the Progression of Alzheimer's Disease in 3×Tg-AD Model Mice.

Journal Of Alzheimer'S Disease : Jad
T Goto, E Kuramoto, A Dhar, RP Wang, H Seki, H Iwai, A Yamanaka, SE Matsumoto, H Hara, M Michikawa, Y Ohyagi, WK Leung, RC Chang
Publication Date: 2020

Variant appearance in text: PS1: M146V
PubMed Link: 32651317
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32646017
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32599904
Variant Present in the following documents:
  • Main text
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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: 2020-07-24

Variant appearance in text: PSEN1: M146V
PubMed Link: 32585593
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32575461
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32528949
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32528242
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: PSEN1: M146V
PubMed Link: 32517180
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32513253
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32429229
Variant Present in the following documents:
  • Main text
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The Transcription Factor EB Reduces the Intraneuronal Accumulation of the Beta-Secretase-Derived APP Fragment C99 in Cellular and Mouse Alzheimer’s Disease Models.

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

Variant appearance in text: PS1: M146V
PubMed Link: 32408680
Variant Present in the following documents:
  • Main text
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Biological sex and DNA repair deficiency drive Alzheimer's disease via systemic metabolic remodeling and brain mitochondrial dysfunction.

Acta Neuropathologica
TG Demarest, VR Varma, D Estrada, M Babbar, S Basu, UV Mahajan, R Moaddel, DL Croteau, M Thambisetty, MP Mattson, VA Bohr
Publication Date: 2020-07

Variant appearance in text: PS1: M146V
PubMed Link: 32333098
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32274467
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32155778
Variant Present in the following documents:
  • Main text
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Contributions of DNA Damage to Alzheimer's Disease.

International Journal Of Molecular Sciences
X Lin, A Kapoor, Y Gu, MJ Chow, J Peng, K Zhao, D Tang
Publication Date: 2020-02-28

Variant appearance in text: PSEN1: M146V
PubMed Link: 32121304
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32094324
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 32082134
Variant Present in the following documents:
  • Main text
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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: 2020-03

Variant appearance in text: PSEN1: M146V
PubMed Link: 31981470
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31949159
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31941000
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31866849
Variant Present in the following documents:
  • Main text
  • fnagi-11-00324.pdf
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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: 2020-02

Variant appearance in text: PSEN1: M146V
PubMed Link: 31858697
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31827783
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31803044
Variant Present in the following documents:
  • Main text
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Cellular and Molecular Mediators of Neuroinflammation in Alzheimer Disease.

International Neurourology Journal
SH Yang
Publication Date: 2019-11

Variant appearance in text: PS1: M146V
PubMed Link: 31795604
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31782729
Variant Present in the following documents:
  • Main text
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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: 2020

Variant appearance in text: PS1: M146V
PubMed Link: 31771065
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31733664
Variant Present in the following documents:
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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
PubMed Link: 31722748
Variant Present in the following documents:
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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
PubMed Link: 31641098
Variant Present in the following documents:
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Somatostatin Receptor Subtype-4 Regulates mRNA Expression of Amyloid-Beta Degrading Enzymes and Microglia Mediators of Phagocytosis in Brains of 3xTg-AD Mice.

Neurochemical Research
K Sandoval, D Umbaugh, A House, A Crider, K Witt
Publication Date: 2019-11

Variant appearance in text: PSEN1: M146V
PubMed Link: 31630317
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31607916
Variant Present in the following documents:
  • Main text
  • fphar-10-01061.pdf
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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
PubMed Link: 31607909
Variant Present in the following documents:
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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
PubMed Link: 31551781
Variant Present in the following documents:
  • Main text
  • fphar-10-00976.pdf
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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
PubMed Link: 31551669
Variant Present in the following documents:
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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
PubMed Link: 31467635
Variant Present in the following documents:
  • Main text
  • OMCL2019-7284967.pdf
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Impaired mitochondrial calcium efflux contributes to disease progression in models of Alzheimer's disease.

Nature Communications
P Jadiya, DW Kolmetzky, D Tomar, A Di Meco, AA Lombardi, JP Lambert, TS Luongo, MH Ludtmann, D Praticò, JW Elrod
Publication Date: 2019-08-29

Variant appearance in text: PS1: M146V
PubMed Link: 31467276
Variant Present in the following documents:
  • 41467_2019_Article_11813.pdf
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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
PubMed Link: 31466320
Variant Present in the following documents:
  • Main text
  • cells-08-00993.pdf
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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
PubMed Link: 31453805
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31443326
Variant Present in the following documents:
  • Main text
  • ijms-20-03979.pdf
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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
PubMed Link: 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
PubMed Link: 31427644
Variant Present in the following documents:
  • Main text
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Palmitoylethanolamide (PEA) as a Potential Therapeutic Agent in Alzheimer's Disease.

Frontiers In Pharmacology
S Beggiato, MC Tomasini, L Ferraro
Publication Date: 2019

Variant appearance in text: PS1: M146V
PubMed Link: 31396087
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  • 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: PS1: M146V
PubMed Link: 31379566
Variant Present in the following documents:
  • Main text
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Global Metabolic Shifts in Age and Alzheimer's Disease Mouse Brains Pivot at NAD+/NADH Redox Sites.

Journal Of Alzheimer'S Disease : Jad
Y Dong, GJ Brewer
Publication Date: 2019

Variant appearance in text: PS1: M146V
PubMed Link: 31356210
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  • Main text
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Memantine Improves Cognitive Function and Alters Hippocampal and Cortical Proteome in Triple Transgenic Mouse Model of Alzheimer's Disease.

Experimental Neurobiology
X Zhou, L Wang, W Xiao, Z Su, C Zheng, Z Zhang, Y Wang, B Xu, X Yang, MPM Hoi
Publication Date: 2019-06

Variant appearance in text: PSEN1: M146V
PubMed Link: 31308798
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  • 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: PSEN1: M146V
PubMed Link: 31306129
Variant Present in the following documents:
  • Main text
  • nihms-1059124.pdf
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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: PSEN1: M146V
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx
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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: PSEN1: M146V
PubMed Link: 31278012
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 31277708
Variant Present in the following documents:
  • Main text
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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
PubMed Link: 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
PubMed Link: 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
PubMed Link: 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
PubMed Link: 31217332
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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: PSEN1: M146V
PubMed Link: 31202913
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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
PubMed Link: 31186449
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  • Main text
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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
PubMed Link: 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
PubMed Link: 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
PubMed Link: 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
PubMed Link: 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
PubMed Link: 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
PubMed Link: 31058151
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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 -