PSEN1 c.737C>A ;(p.A246E)

Variant ID: 14-73659540-C-A

NM_000021.3(PSEN1):c.737C>A;(p.A246E)

This variant was identified in 262 publications

View GRCh38 version.




Publications:


Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

International Journal Of Molecular Sciences
Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2023-05-08

Variant appearance in text: PSEN1: Ala246Glu
PubMed Link: 37176125
Variant Present in the following documents:
  • Main text
  • ijms-24-08417.pdf
View BVdb publication page



Humanin and Its Pathophysiological Roles in Aging: A Systematic Review.

Biology
Coradduzza, Donatella D; Congiargiu, Antonella A; Chen, Zhichao Z; Cruciani, Sara S; Zinellu, Angelo A; Carru, Ciriaco C; Medici, Serenella S
Publication Date: 2023-04-06

Variant appearance in text: PS1: A246E
PubMed Link: 37106758
Variant Present in the following documents:
  • Main text
  • biology-12-00558.pdf
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Emerging roles of astrocytes in blood-brain barrier disruption upon amyloid-beta insults in Alzheimer's disease.

Neural Regeneration Research
Yue, Qian Q; Hoi, Maggie Pui Man MPM
Publication Date: 2023-09

Variant appearance in text: PSEN1: A246E
PubMed Link: 36926705
Variant Present in the following documents:
  • NRR-18-1890.pdf
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Current progress of cerebral organoids for modeling Alzheimer's disease origins and mechanisms.

Bioengineering & Translational Medicine
Sreenivasamurthy, Sai S; Laul, Mahek M; Zhao, Nan N; Kim, Tiffany T; Zhu, Donghui D
Publication Date: 2023-03

Variant appearance in text: PSEN1: A246E
PubMed Link: 36925717
Variant Present in the following documents:
  • BTM2-8-e10378.pdf
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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PSEN1: 737C>A; Ala246Glu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



BMP4-SMAD1/5/9-RUNX2 pathway activation inhibits neurogenesis and oligodendrogenesis in Alzheimer's patients' iPSCs in senescence-related conditions.

Stem Cell Reports
Nakatsu, Daiki D; Kunishige, Rina R; Taguchi, Yuki Y; Shinozaki-Narikawa, Naeko N; Osaka, Kishiko K; Yokomizo, Kayo K; Ishida, Mami M; Takei, Shunsuke S; Yamasaki, Shoko S; Hagiya, Keita K; Hattori, Kotaro K; Tsukamoto, Tadashi T; Murata, Masayuki M; Kano, Fumi F
Publication Date: 2023-01-30

Variant appearance in text: PSEN1: A246E
PubMed Link: 36764297
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
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Presenilin 1 Modulates Acetylcholinesterase Trafficking and Maturation.

International Journal Of Molecular Sciences
Cortés-Gómez, María-Ángeles MÁ; Barberá, Víctor M VM; Alom, Jordi J; Sáez-Valero, Javier J; García-Ayllón, María-Salud MS
Publication Date: 2023-01-11

Variant appearance in text: PS1: A246E
PubMed Link: 36674948
Variant Present in the following documents:
  • Main text
  • ijms-24-01437.pdf
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Chaperone-Dependent Mechanisms as a Pharmacological Target for Neuroprotection.

International Journal Of Molecular Sciences
Voronin, Mikhail V MV; Abramova, Elena V EV; Verbovaya, Ekaterina R ER; Vakhitova, Yulia V YV; Seredenin, Sergei B SB
Publication Date: 2023-01-03

Variant appearance in text: PSEN1: Ala246Glu; rs63750526
PubMed Link: 36614266
Variant Present in the following documents:
  • Main text
  • ijms-24-00823.pdf
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Mitochondrial dysfunction of induced pluripotent stem cells-based neurodegenerative disease modeling and therapeutic strategy.

Frontiers In Cell And Developmental Biology
Luo, Hong-Mei HM; Xu, Jia J; Huang, Dan-Xia DX; Chen, Yun-Qiang YQ; Liu, Yi-Zhou YZ; Li, Ya-Jie YJ; Chen, Hong H
Publication Date: 2022

Variant appearance in text: PSEN1: A246E
PubMed Link: 36478742
Variant Present in the following documents:
  • Main text
  • fcell-10-1030390.pdf
View BVdb publication page



Protein mishandling and impaired lysosomal proteolysis generated through calcium dysregulation in Alzheimer's disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Mustaly-Kalimi, Sarah S; Gallegos, Wacey W; Marr, Robert A RA; Gilman-Sachs, Alice A; Peterson, Daniel A DA; Sekler, Israel I; Stutzmann, Grace E GE
Publication Date: 2022-12-06

Variant appearance in text: PS1: A246E
PubMed Link: 36442130
Variant Present in the following documents:
  • pnas.202211999.pdf
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Alzheimer's Disease: Treatment Strategies and Their Limitations.

International Journal Of Molecular Sciences
Passeri, Elodie E; Elkhoury, Kamil K; Morsink, Margaretha M; Broersen, Kerensa K; Linder, Michel M; Tamayol, Ali A; Malaplate, Catherine C; Yen, Frances T FT; Arab-Tehrany, Elmira E
Publication Date: 2022-11-12

Variant appearance in text: PSEN1: A246E
PubMed Link: 36430432
Variant Present in the following documents:
  • Main text
  • ijms-23-13954.pdf
View BVdb publication page



Advances in stromal cell therapy for management of Alzheimer's disease.

Frontiers In Pharmacology
Srivastava, Rashi R; Li, Aidong A; Datta, Tirtharaj T; Jha, Niraj Kumar NK; Talukder, Salehikram S; Jha, Saurabh Kumar SK; Chen, Zhe-Sheng ZS
Publication Date: 2022

Variant appearance in text: PS1: A246E
PubMed Link: 36267273
Variant Present in the following documents:
  • Main text
  • fphar-13-955401.pdf
View BVdb publication page



The regulatory mechanism and therapeutic potential of transcription factor EB in neurodegenerative diseases.

Cns Neuroscience & Therapeutics
Jiao, Fengjuan F; Zhou, Bojie B; Meng, Lingyan L
Publication Date: 2022-10-02

Variant appearance in text: PS1: A246E
PubMed Link: 36184826
Variant Present in the following documents:
  • Main text
  • CNS-29-37.pdf
View BVdb publication page



An insight into the iPSCs-derived two-dimensional culture and three-dimensional organoid models for neurodegenerative disorders.

Interface Focus
Bhargava, Anushka A; Sandoval Castellanos, Ana M AM; Shah, Sonali S; Ning, Ke K
Publication Date: 2022-10-06

Variant appearance in text: PS1: A246E
PubMed Link: 35992771
Variant Present in the following documents:
  • Main text
  • rsfs.2022.0040.pdf
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The effect of citalopram treatment on amyloid-β precursor protein processing and oxidative stress in human hNSC-derived neurons.

Translational Psychiatry
Elsworthy, R J RJ; Crowe, J A JA; King, M C MC; Dunleavy, C C; Fisher, E E; Ludlam, A A; Parri, H R HR; Hill, E J EJ; Aldred, S S
Publication Date: 2022-07-18

Variant appearance in text: PSEN1: A246E
PubMed Link: 35851379
Variant Present in the following documents:
  • Main text
  • 41398_2022_Article_2050.pdf
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The use of fibroblasts as a valuable strategy for studying mitochondrial impairment in neurological disorders.

Translational Neurodegeneration
Olesen, Margrethe A MA; Villavicencio-Tejo, Francisca F; Quintanilla, Rodrigo A RA
Publication Date: 2022-07-04

Variant appearance in text: PSEN1: A246E
PubMed Link: 35787292
Variant Present in the following documents:
  • Main text
  • 40035_2022_Article_308.pdf
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Astrocytes Derived from Familial and Sporadic Alzheimer's Disease iPSCs Show Altered Calcium Signaling and Respond Differently to Misfolded Protein Tau.

Cells
Brezovakova, Veronika V; Sykova, Eva E; Jadhav, Santosh S
Publication Date: 2022-04-22

Variant appearance in text: PSEN1: A246E
PubMed Link: 35563735
Variant Present in the following documents:
  • cells-11-01429.pdf
View BVdb publication page



Axonal transport of late endosomes and amphisomes is selectively modulated by local Ca2+ efflux and disrupted by PSEN1 loss of function.

Science Advances
Lie, Pearl P Y PPY; Yoo, Lang L; Goulbourne, Chris N CN; Berg, Martin J MJ; Stavrides, Philip P; Huo, Chunfeng C; Lee, Ju-Hyun JH; Nixon, Ralph A RA
Publication Date: 2022-04-29

Variant appearance in text: PS1: A246E
PubMed Link: 35486730
Variant Present in the following documents:
  • sciadv.abj5716.pdf
View BVdb publication page



Defects of Nutrient Signaling and Autophagy in Neurodegeneration.

Frontiers In Cell And Developmental Biology
Ondaro, Jon J; Hernandez-Eguiazu, Haizea H; Garciandia-Arcelus, Maddi M; Loera-Valencia, Raúl R; Rodriguez-Gómez, Laura L; Jiménez-Zúñiga, Andrés A; Goikolea, Julen J; Rodriguez-Rodriguez, Patricia P; Ruiz-Martinez, Javier J; Moreno, Fermín F; Lopez de Munain, Adolfo A; Holt, Ian James IJ; Gil-Bea, Francisco Javier FJ; Gereñu, Gorka G
Publication Date: 2022

Variant appearance in text: PS1: A246E
PubMed Link: 35419363
Variant Present in the following documents:
  • Main text
  • fcell-10-836196.pdf
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: PSEN1: 737C>A; Ala246Glu
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
  • pcbi.1010013.s002.xlsx, sheet 2
View BVdb publication page



Hippocampal neurogenesis and pro-neurogenic therapies for Alzheimer's disease.

Animal Models And Experimental Medicine
Zheng, Jie J
Publication Date: 2022-02

Variant appearance in text: PS1: A246E
PubMed Link: 35229998
Variant Present in the following documents:
  • Main text
  • AME2-5-3.pdf
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Human iPSC-Derived Neural Models for Studying Alzheimer's Disease: from Neural Stem Cells to Cerebral Organoids.

Stem Cell Reviews And Reports
Barak, Martin M; Fedorova, Veronika V; Pospisilova, Veronika V; Raska, Jan J; Vochyanova, Simona S; Sedmik, Jiri J; Hribkova, Hana H; Klimova, Hana H; Vanova, Tereza T; Bohaciakova, Dasa D
Publication Date: 2022-02

Variant appearance in text: PSEN1: A246E
PubMed Link: 35107767
Variant Present in the following documents:
  • Main text
  • 12015_2021_Article_10254.pdf
View BVdb publication page



Endotype reversal as a novel strategy for screening drugs targeting familial Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Caldwell, Andrew B AB; Liu, Qing Q; Zhang, Can C; Schroth, Gary P GP; Galasko, Douglas R DR; Rynearson, Kevin D KD; Tanzi, Rudolph E RE; Yuan, Shauna H SH; Wagner, Steven L SL; Subramaniam, Shankar S
Publication Date: 2022-11

Variant appearance in text: PSEN1: A246E
PubMed Link: 35084109
Variant Present in the following documents:
  • Main text
  • ALZ-18-2117-s001.pdf
View BVdb publication page



Therapeutic Potential of Vital Transcription Factors in Alzheimer's and Parkinson's Disease With Particular Emphasis on Transcription Factor EB Mediated Autophagy.

Frontiers In Neuroscience
Rai, Sachchida Nand SN; Tiwari, Neeraj N; Singh, Payal P; Mishra, Divya D; Singh, Anurag Kumar AK; Hooshmandi, Etrat E; Vamanu, Emanuel E; Singh, Mohan P MP
Publication Date: 2021

Variant appearance in text: PS1: A246E
PubMed Link: 34970114
Variant Present in the following documents:
  • Main text
View BVdb publication page



Contribution of Human Pluripotent Stem Cell-Based Models to Drug Discovery for Neurological Disorders.

Cells
Benchoua, Alexandra A; Lasbareilles, Marie M; Tournois, Johana J
Publication Date: 2021-11-24

Variant appearance in text: PSEN1: A246E
PubMed Link: 34943799
Variant Present in the following documents:
  • cells-10-03290.pdf
View BVdb publication page



Contribution of Human Pluripotent Stem Cell-Based Models to Drug Discovery for Neurological Disorders.

Cells
Benchoua, Alexandra A; Lasbareilles, Marie M; Tournois, Johana J
Publication Date: 2021-11-24

Variant appearance in text: PSEN1: A246E
PubMed Link: 34943799
Variant Present in the following documents:
  • cells-10-03290.pdf
View BVdb publication page



A Review of the Current Mammalian Models of Alzheimer's Disease and Challenges That Need to Be Overcome.

International Journal Of Molecular Sciences
Mckean, Natasha Elizabeth NE; Handley, Renee Robyn RR; Snell, Russell Grant RG
Publication Date: 2021-12-06

Variant appearance in text: PSEN1: A246E
PubMed Link: 34884970
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mitochondrial Quality Control Strategies: Potential Therapeutic Targets for Neurodegenerative Diseases?

Frontiers In Neuroscience
Hu, Di D; Liu, Zunren Z; Qi, Xin X
Publication Date: 2021

Variant appearance in text: PS1: A246E
PubMed Link: 34867159
Variant Present in the following documents:
  • Main text
View BVdb publication page



Utilization of Human Induced Pluripotent Stem Cells-Derived In vitro Models for the Future Study of Sex Differences in Alzheimer's Disease.

Frontiers In Aging Neuroscience
Supakul, Sopak S; Okano, Hideyuki H; Maeda, Sumihiro S
Publication Date: 2021

Variant appearance in text: PS1: A246E
PubMed Link: 34803659
Variant Present in the following documents:
  • Main text
  • fnagi-13-768948.pdf
View BVdb publication page



Neuronal Dynamics and miRNA Signaling Differ between SH-SY5Y APPSwe and PSEN1 Mutant iPSC-Derived AD Models upon Modulation with miR-124 Mimic and Inhibitor.

Cells
Garcia, Gonçalo G; Pinto, Sara S; Cunha, Mar M; Fernandes, Adelaide A; Koistinaho, Jari J; Brites, Dora D
Publication Date: 2021-09-14

Variant appearance in text: PSEN1: A246E
PubMed Link: 34572073
Variant Present in the following documents:
  • cells-10-02424.pdf
View BVdb publication page



Hyperbaric oxygen therapy alleviates vascular dysfunction and amyloid burden in an Alzheimer's disease mouse model and in elderly patients.

Aging
Shapira, Ronit R; Gdalyahu, Amos A; Gottfried, Irit I; Sasson, Efrat E; Hadanny, Amir A; Efrati, Shai S; Blinder, Pablo P; Ashery, Uri U
Publication Date: 2021-09-09

Variant appearance in text: PS1: A246E
PubMed Link: 34499614
Variant Present in the following documents:
  • aging-13-203485.pdf
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Optimization of cerebral organoids: a more qualified model for Alzheimer's disease research.

Translational Neurodegeneration
Bi, Feng-Chen FC; Yang, Xin-He XH; Cheng, Xiao-Yu XY; Deng, Wen-Bin WB; Guo, Xiao-Li XL; Yang, Hui H; Wang, Yin Y; Li, Juan J; Yao, Yao Y
Publication Date: 2021-08-09

Variant appearance in text: PSEN1: A246E
PubMed Link: 34372927
Variant Present in the following documents:
  • Main text
  • 40035_2021_Article_252.pdf
View BVdb publication page



Analyzing Olfactory Neuron Precursors Non-Invasively Isolated through NADH FLIM as a Potential Tool to Study Oxidative Stress in Alzheimer's Disease.

International Journal Of Molecular Sciences
Gómez-Virgilio, Laura L; Luarte, Alejandro A; Ponce, Daniela P DP; Bruna, Bárbara A BA; Behrens, María I MI
Publication Date: 2021-06-12

Variant appearance in text: PSEN1: A246E
PubMed Link: 34204595
Variant Present in the following documents:
  • Main text
  • ijms-22-06311.pdf
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Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site.

Frontiers In Molecular Biosciences
Soto-Ospina, Alejandro A; Araque Marín, Pedronel P; Bedoya, Gabriel G; Sepulveda-Falla, Diego D; Villegas Lanau, Andrés A
Publication Date: 2021

Variant appearance in text: PS1: Ala246GLu
PubMed Link: 34150846
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Potential of Induced Pluripotent Stem Cells to Treat and Model Alzheimer's Disease.

Stem Cells International
Schulz, Joseph M JM
Publication Date: 2021

Variant appearance in text: PSEN1: A246E
PubMed Link: 34122554
Variant Present in the following documents:
  • Main text
View BVdb publication page



Presenilin mutations and their impact on neuronal differentiation in Alzheimer's disease.

Neural Regeneration Research
Hernandez-Sapiens, Mercedes A MA; Reza-Zaldívar, Edwin E EE; Márquez-Aguirre, Ana L AL; Gómez-Pinedo, Ulises U; Matias-Guiu, Jorge J; Cevallos, Ricardo R RR; Mateos-Díaz, Juan C JC; Sánchez-González, Víctor J VJ; Canales-Aguirre, Alejandro A AA
Publication Date: 2022-01

Variant appearance in text: PSEN1: A246E
PubMed Link: 34100423
Variant Present in the following documents:
  • Main text
  • NRR-17-31.pdf
View BVdb publication page



Mutant Presenilin 1 Dysregulates Exosomal Proteome Cargo Produced by Human-Induced Pluripotent Stem Cell Neurons.

Acs Omega
Podvin, Sonia S; Jones, Alexander A; Liu, Qing Q; Aulston, Brent B; Mosier, Charles C; Ames, Janneca J; Winston, Charisse C; Lietz, Christopher B CB; Jiang, Zhenze Z; O'Donoghue, Anthony J AJ; Ikezu, Tsuneya T; Rissman, Robert A RA; Yuan, Shauna H SH; Hook, Vivian V
Publication Date: 2021-05-25

Variant appearance in text: PS1: A246E
PubMed Link: 34056454
Variant Present in the following documents:
  • Main text
View BVdb publication page



An APP ectodomain mutation outside of the Aβ domain promotes Aβ production in vitro and deposition in vivo.

The Journal Of Experimental Medicine
Zhang, Xulun X; Zhang, Can Martin CM; Prokopenko, Dmitry D; Liang, Yingxia Y; Zhen, Sherri Y SY; Weigle, Ian Q IQ; Han, Weinong W; Aryal, Manish M; Tanzi, Rudolph E RE; Sisodia, Sangram S SS
Publication Date: 2021-06-07

Variant appearance in text: PS1: A246E
PubMed Link: 33822840
Variant Present in the following documents:
  • Main text
View BVdb publication page



Toward three-dimensional in vitro models to study neurovascular unit functions in health and disease.

Neural Regeneration Research
Caffrey, Tara M TM; Button, Emily B EB; Robert, Jerome J
Publication Date: 2021-11

Variant appearance in text: PSEN1: A246E
PubMed Link: 33818484
Variant Present in the following documents:
  • Main text
  • NRR-16-2132.pdf
View BVdb publication page



Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.

Cell Reports
Arber, Charles C; Lovejoy, Christopher C; Harris, Lachlan L; Willumsen, Nanet N; Alatza, Argyro A; Casey, Jackie M JM; Lines, Georgie G; Kerins, Caoimhe C; Mueller, Anika K AK; Zetterberg, Henrik H; Hardy, John J; Ryan, Natalie S NS; Fox, Nick C NC; Lashley, Tammaryn T; Wray, Selina S
Publication Date: 2021-01-12

Variant appearance in text: PSEN1: A246E
PubMed Link: 33440141
Variant Present in the following documents:
  • Main text
View BVdb publication page



Stem cell-derived three-dimensional (organoid) models of Alzheimer's disease: a precision medicine approach.

Neural Regeneration Research
Kim, Sujung Jun SJ; Li, Jiaxin J; Mahairaki, Vasiliki V
Publication Date: 2021-08

Variant appearance in text: PS1: A246E
PubMed Link: 33433475
Variant Present in the following documents:
  • NRR-16-1546.pdf
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Target Molecules of STIM Proteins in the Central Nervous System.

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

Variant appearance in text: PS1: A246E
PubMed Link: 33424550
Variant Present in the following documents:
  • Main text
View BVdb publication page



Presence of a mutation in PSEN1 or PSEN2 gene is associated with an impaired brain endothelial cell phenotype in vitro.

Fluids And Barriers Of The Cns
Raut, Snehal S; Patel, Ronak R; Al-Ahmad, Abraham J AJ
Publication Date: 2021-01-07

Variant appearance in text: PSEN1: Ala246Glu
PubMed Link: 33413468
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Dysfunctions of Mitochondria-Associated Membranes (MAMs) in Alzheimer's Disease.

International Journal Of Molecular Sciences
Eysert, Fanny F; Kinoshita, Paula Fernanda PF; Mary, Arnaud A; Vaillant-Beuchot, Loan L; Checler, Frédéric F; Chami, Mounia M
Publication Date: 2020-12-14

Variant appearance in text: PS1: A246E
PubMed Link: 33327665
Variant Present in the following documents:
  • Main text
  • ijms-21-09521.pdf
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