PSEN1 c.837T>G ;(p.N279K)

Variant ID: 14-73664806-T-G

NM_000021.3(PSEN1):c.837T>G;(p.N279K)

This variant was identified in 40 publications

View GRCh38 version.




Publications:


The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China.

Npj Parkinson'S Disease
Sun, Yi-Min YM; Zhou, Xin-Yue XY; Liang, Xiao-Niu XN; Lin, Jin-Ran JR; Xu, Yi-Dan YD; Chen, Chen C; Wei, Si-Di SD; Chen, Qi-Si QS; Liu, Feng-Tao FT; Zhao, Jue J; Tang, Yi-Lin YL; Shen, Bo B; Gan, Lin-Hua LH; Lu, Boxun B; Ding, Zheng-Tong ZT; An, Yu Y; Wu, Jian-Jun JJ; Wang, Jian J
Publication Date: 2023-05-17

Variant appearance in text: PSEN1: 837T>G; Asn279Lys
PubMed Link: 37198191
Variant Present in the following documents:
  • Main text
  • 41531_2023_Article_518.pdf
  • 41531_2023_518_MOESM1_ESM.pdf
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The influence of 17q21.31 and APOE genetic ancestry on neurodegenerative disease risk.

Frontiers In Aging Neuroscience
Harerimana, Nadia V NV; Goate, Alison M AM; Bowles, Kathryn R KR
Publication Date: 2022

Variant appearance in text: PSEN1: N279K
PubMed Link: 36337698
Variant Present in the following documents:
  • fnagi-14-1021918.pdf
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Advances in Recapitulating Alzheimer's Disease Phenotypes Using Human Induced Pluripotent Stem Cell-Based In Vitro Models.

Brain Sciences
Hasan, Md Fayad MF; Trushina, Eugenia E
Publication Date: 2022-04-26

Variant appearance in text: PSEN1: N279K
PubMed Link: 35624938
Variant Present in the following documents:
  • brainsci-12-00552.pdf
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Gene Editing and Alzheimer's Disease: Is There Light at the End of the Tunnel?

Frontiers In Genome Editing
Stepanichev, Mikhail M
Publication Date: 2020

Variant appearance in text: PSEN1: N279K
PubMed Link: 34713213
Variant Present in the following documents:
  • Main text
  • fgeed-02-00004.pdf
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The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Npj Genomic Medicine
Jiao, Bin B; Liu, Hui H; Guo, Lina L; Xiao, Xuewen X; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Wang, Xin X; Jiang, Yaling Y; Yang, Qijie Q; Zhu, Yuan Y; Zhou, Lin L; Zhang, Weiwei W; Wang, Junling J; Yan, Xinxiang X; Li, Jinchen J; Tang, Beisha B; Shen, Lu L
Publication Date: 2021-08-13

Variant appearance in text: PSEN1: N279K
PubMed Link: 34389718
Variant Present in the following documents:
  • 41525_2021_Article_235.pdf
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New Insights Into Drug Discovery Targeting Tau Protein.

Frontiers In Molecular Neuroscience
Soeda, Yoshiyuki Y; Takashima, Akihiko A
Publication Date: 2020

Variant appearance in text: PSEN1: N279K
PubMed Link: 33343298
Variant Present in the following documents:
  • Main text
  • fnmol-13-590896.pdf
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Human Pluripotent Stem Cell-Derived Neural Cells as a Relevant Platform for Drug Screening in Alzheimer's Disease.

International Journal Of Molecular Sciences
Garcia-Leon, Juan Antonio JA; Caceres-Palomo, Laura L; Sanchez-Mejias, Elisabeth E; Mejias-Ortega, Marina M; Nuñez-Diaz, Cristina C; Fernandez-Valenzuela, Juan Jose JJ; Sanchez-Varo, Raquel R; Davila, Jose Carlos JC; Vitorica, Javier J; Gutierrez, Antonia A
Publication Date: 2020-09-18

Variant appearance in text: PSEN1: N279K
PubMed Link: 32962164
Variant Present in the following documents:
  • Main text
  • ijms-21-06867.pdf
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Transcriptomics in Alzheimer's Disease: Aspects and Challenges.

International Journal Of Molecular Sciences
Bagyinszky, Eva E; Giau, Vo Van VV; An, SeongSoo A SA
Publication Date: 2020-05-15

Variant appearance in text: PSEN1: N279K
PubMed Link: 32429229
Variant Present in the following documents:
  • Main text
  • ijms-21-03517.pdf
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Human-Induced Pluripotent Stem Cells and Herbal Small-Molecule Drugs for Treatment of Alzheimer's Disease.

International Journal Of Molecular Sciences
Wuli, Wei W; Tsai, Sheng-Tzung ST; Chiou, Tzyy-Wen TW; Harn, Horng-Jyh HJ
Publication Date: 2020-02-16

Variant appearance in text: PSEN1: N279K
PubMed Link: 32079110
Variant Present in the following documents:
  • Main text
  • ijms-21-01327.pdf
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Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Ramos, Eliana Marisa EM; Dokuru, Deepika Reddy DR; Van Berlo, Victoria V; Wojta, Kevin K; Wang, Qing Q; Huang, Alden Y AY; Deverasetty, Sandeep S; Qin, Yue Y; van Blitterswijk, Marka M; Jackson, Jazmyne J; Appleby, Brian B; Bordelon, Yvette Y; Brannelly, Patrick P; Brushaber, Danielle E DE; Dickerson, Bradford B; Dickinson, Susan S; Domoto-Reilly, Kimiko K; Faber, Kelley K; Fields, Julie J; Fong, Jamie J; Foroud, Tatiana T; Forsberg, Leah K LK; Gavrilova, Ralitza R; Ghoshal, Nupur N; Goldman, Jill J; Graff-Radford, Jonathan J; Graff-Radford, Neill N; Grant, Ian I; Grossman, Murray M; Heuer, Hilary W HW; Hsiung, Ging-Yuek R GR; Huey, Edward E; Irwin, David D; Kantarci, Kejal K; Karydas, Anna A; Kaufer, Daniel D; Kerwin, Diana D; Knopman, David D; Kornak, John J; Kramer, Joel H JH; Kremers, Walter W; Kukull, Walter W; Litvan, Irene I; Ljubenkov, Peter P; Lungu, Codrin C; Mackenzie, Ian I; Mendez, Mario F MF; Miller, Bruce L BL; Onyike, Chiadi C; Pantelyat, Alexander A; Pearlman, Rodney R; Petrucelli, Len L; Potter, Madeline M; Rankin, Katherine P KP; Rascovsky, Katya K; Roberson, Erik D ED; Rogalski, Emily E; Shaw, Leslie L; Syrjanen, Jeremy J; Tartaglia, Maria Carmela MC; Tatton, Nadine N; Taylor, Joanne J; Toga, Arthur A; Trojanowski, John Q JQ; Weintraub, Sandra S; Wong, Bonnie B; Wszolek, Zbigniew Z; Rademakers, Rosa R; Boeve, Brad F BF; Rosen, Howard J HJ; Boxer, Adam L AL; , ; Coppola, Giovanni G
Publication Date: 2020-01

Variant appearance in text: PSEN1: Asn279Lys
PubMed Link: 31914217
Variant Present in the following documents:
  • Main text
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Glucocerebrosidase and its relevance to Parkinson disease.

Molecular Neurodegeneration
Do, Jenny J; McKinney, Cindy C; Sharma, Pankaj P; Sidransky, Ellen E
Publication Date: 2019-08-29

Variant appearance in text: N/A
PubMed Link: 31464647
Variant Present in the following documents:
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Emerging Role of Genetic Alterations Affecting Exosome Biology in Neurodegenerative Diseases.

International Journal Of Molecular Sciences
Riva, Paola P; Battaglia, Cristina C; Venturin, Marco M
Publication Date: 2019-08-23

Variant appearance in text: PSEN1: 837T>G; N279K
PubMed Link: 31450727
Variant Present in the following documents:
  • ijms-20-04113.pdf
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Bidirectional relationship between sleep and Alzheimer's disease: role of amyloid, tau, and other factors.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Wang, Chanung C; Holtzman, David M DM
Publication Date: 2020-01

Variant appearance in text: PSEN1: N279K
PubMed Link: 31408876
Variant Present in the following documents:
  • Main text
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Modeling Neurological Disorders with Human Pluripotent Stem Cell-Derived Astrocytes.

International Journal Of Molecular Sciences
Suga, Mika M; Kondo, Takayuki T; Inoue, Haruhisa H
Publication Date: 2019-08-08

Variant appearance in text: PSEN1: N279K
PubMed Link: 31398826
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rates of lobar atrophy in asymptomatic MAPT mutation carriers.

Alzheimer'S & Dementia (New York, N. Y.)
Chen, Qin Q; Boeve, Bradley F BF; Senjem, Matthew M; Tosakulwong, Nirubol N; Lesnick, Timothy G TG; Brushaber, Danielle D; Dheel, Christina C; Fields, Julie J; Forsberg, Leah L; Gavrilova, Ralitza R; Gearhart, Debra D; Graff-Radford, Jonathan J; Graff-Radford, Neill R NR; Jack, Clifford R CR; Jones, David T DT; Knopman, David S DS; Kremers, Walter K WK; Lapid, Maria M; Rademakers, Rosa R; Syrjanen, Jeremy J; Boxer, Adam L AL; Rosen, Howie H; Wszolek, Zbigniew K ZK; Kantarci, Kejal K; ,
Publication Date: 2019

Variant appearance in text: PSEN1: N279K
PubMed Link: 31388560
Variant Present in the following documents:
  • Main text
  • main.pdf
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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
Krivinko, Josh M JM; Koppel, Jeremy J; Savonenko, Alena A; Sweet, Robert A RA
Publication Date: 2020-01

Variant appearance in text: PSEN1: N279K
PubMed Link: 31278012
Variant Present in the following documents:
  • Main text
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Modeling Alzheimer's disease with human iPS cells: advancements, lessons, and applications.

Neurobiology Of Disease
Essayan-Perez, Sofia S; Zhou, Bo B; Nabet, Amber M AM; Wernig, Marius M; Huang, Yu-Wen Alvin YA
Publication Date: 2019-10

Variant appearance in text: PSEN1: N279K
PubMed Link: 31202913
Variant Present in the following documents:
  • Main text
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Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers.

Journal Of Neuroimaging : Official Journal Of The American Society Of Neuroimaging
Chen, Qin Q; Boeve, Bradley F BF; Tosakulwong, Nirubol N; Lesnick, Timothy T; Brushaber, Danielle D; Dheel, Christina C; Fields, Julie J; Forsberg, Leah L; Gavrilova, Ralitza R; Gearhart, Debra D; Haley, Dana D; Gunter, Jeffrey L JL; Graff-Radford, Jonathan J; Jones, David D; Knopman, David D; Graff-Radford, Neill N; Kraft, Ruth R; Lapid, Maria M; Rademakers, Rosa R; Wszolek, Zbigniew K ZK; Rosen, Howie H; Boxer, Adam L AL; Kantarci, Kejal K
Publication Date: 2019-09

Variant appearance in text: PS1: N279K
PubMed Link: 31173437
Variant Present in the following documents:
  • Main text
  • JON-29-624.pdf
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Next Generation Precision Medicine: CRISPR-mediated Genome Editing for the Treatment of Neurodegenerative Disorders.

Journal Of Neuroimmune Pharmacology : The Official Journal Of The Society On Neuroimmune Pharmacology
Raikwar, Sudhanshu P SP; Kikkeri, Nidhi S NS; Sakuru, Ragha R; Saeed, Daniyal D; Zahoor, Haris H; Premkumar, Keerthivaas K; Mentor, Shireen S; Thangavel, Ramasamy R; Dubova, Iuliia I; Ahmed, Mohammad Ejaz ME; Selvakumar, Govindhasamy P GP; Kempuraj, Duraisamy D; Zaheer, Smita S; Iyer, Shankar S SS; Zaheer, Asgar A
Publication Date: 2019-12

Variant appearance in text: PSEN1: N279K
PubMed Link: 31011884
Variant Present in the following documents:
  • Main text
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The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review.

Neuropsychiatric Disease And Treatment
He, Shuang S; Chen, Shuai S; Xia, Ming-Rong MR; Sun, Zhi-Kun ZK; Huang, Yue Y; Zhang, Jie-Wen JW
Publication Date: 2018

Variant appearance in text: PSEN1: N279K
PubMed Link: 29950844
Variant Present in the following documents:
  • Main text
  • ndt-14-1627.pdf
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Atypical parkinsonian syndromes: a general neurologist's perspective.

European Journal Of Neurology
Deutschländer, A B AB; Ross, O A OA; Dickson, D W DW; Wszolek, Z K ZK
Publication Date: 2018-01

Variant appearance in text: PSEN1: N279K
PubMed Link: 28803444
Variant Present in the following documents:
  • Main text
View BVdb publication page



Glial contributions to neurodegeneration in tauopathies.

Molecular Neurodegeneration
Leyns, Cheryl E G CEG; Holtzman, David M DM
Publication Date: 2017-06-29

Variant appearance in text: PS1: N279K
PubMed Link: 28662669
Variant Present in the following documents:
  • 13024_2017_Article_192.pdf
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Stem cell models of Alzheimer's disease: progress and challenges.

Alzheimer'S Research & Therapy
Arber, Charles C; Lovejoy, Christopher C; Wray, Selina S
Publication Date: 2017-06-13

Variant appearance in text: PSEN1: N279K
PubMed Link: 28610595
Variant Present in the following documents:
  • Main text
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Modeling tau pathology in human stem cell derived neurons.

Brain Pathology (Zurich, Switzerland)
Wray, Selina S
Publication Date: 2017-07

Variant appearance in text: PSEN1: N279K
PubMed Link: 28585382
Variant Present in the following documents:
  • Main text
View BVdb publication page



3D culture models of Alzheimer's disease: a road map to a "cure-in-a-dish".

Molecular Neurodegeneration
Choi, Se Hoon SH; Kim, Young Hye YH; Quinti, Luisa L; Tanzi, Rudolph E RE; Kim, Doo Yeon DY
Publication Date: 2016-12-09

Variant appearance in text: PSEN1: N279K
PubMed Link: 27938410
Variant Present in the following documents:
  • 13024_2016_Article_139.pdf
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Self-Organizing 3D Human Neural Tissue Derived from Induced Pluripotent Stem Cells Recapitulate Alzheimer's Disease Phenotypes.

Plos One
Raja, Waseem K WK; Mungenast, Alison E AE; Lin, Yuan-Ta YT; Ko, Tak T; Abdurrob, Fatema F; Seo, Jinsoo J; Tsai, Li-Huei LH
Publication Date: 2016

Variant appearance in text: PSEN1: N279K
PubMed Link: 27622770
Variant Present in the following documents:
  • pone.0161969.pdf
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Tau physiology and pathomechanisms in frontotemporal lobar degeneration.

Journal Of Neurochemistry
Bodea, Liviu-Gabriel LG; Eckert, Anne A; Ittner, Lars Matthias LM; Piguet, Olivier O; Götz, Jürgen J
Publication Date: 2016-08

Variant appearance in text: PSEN1: N279K
PubMed Link: 27306859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of lysosome status on extracellular vesicle content and release.

Ageing Research Reviews
Eitan, Erez E; Suire, Caitlin C; Zhang, Shi S; Mattson, Mark P MP
Publication Date: 2016-12

Variant appearance in text: PS1: N279K
PubMed Link: 27238186
Variant Present in the following documents:
  • Main text
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Monoaminergic neuropathology in Alzheimer's disease.

Progress In Neurobiology
Šimić, Goran G; Babić Leko, Mirjana M; Wray, Selina S; Harrington, Charles R CR; Delalle, Ivana I; Jovanov-Milošević, Nataša N; Bažadona, Danira D; Buée, Luc L; de Silva, Rohan R; Di Giovanni, Giuseppe G; Wischik, Claude M CM; Hof, Patrick R PR
Publication Date: 2017-04

Variant appearance in text: PSEN1: Asn279Lys
PubMed Link: 27084356
Variant Present in the following documents:
  • Main text
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Modeling Alzheimer's disease with human induced pluripotent stem (iPS) cells.

Molecular And Cellular Neurosciences
Mungenast, Alison E AE; Siegert, Sandra S; Tsai, Li-Huei LH
Publication Date: 2016-06

Variant appearance in text: PSEN1: N279K
PubMed Link: 26657644
Variant Present in the following documents:
  • Main text
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Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations.

Frontiers In Aging Neuroscience
Rossi, Giacomina G; Tagliavini, Fabrizio F
Publication Date: 2015

Variant appearance in text: PSEN1: N279K
PubMed Link: 26528178
Variant Present in the following documents:
  • fnagi-07-00192.pdf
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A cognitive chameleon: lessons from a novel MAPT mutation case.

Neurocase
Liang, Yuying Y; Gordon, Elizabeth E; Rohrer, Jonathan J; Downey, Laura L; de Silva, Rohan R; Jäger, Hans Rolf HR; Nicholas, Jennifer J; Modat, Marc M; Cardoso, M Jorge MJ; Mahoney, Colin C; Warren, Jason J; Rossor, Martin M; Fox, Nick N; Caine, Diana D
Publication Date: 2014

Variant appearance in text: PSEN1: N279K
PubMed Link: 23998300
Variant Present in the following documents:
  • nncs-20-684.pdf
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Protein tau: prime cause of synaptic and neuronal degeneration in Alzheimer's disease.

International Journal Of Alzheimer'S Disease
Crespo-Biel, Natalia N; Theunis, Clara C; Van Leuven, Fred F
Publication Date: 2012

Variant appearance in text: PS1: N279K
PubMed Link: 22720188
Variant Present in the following documents:
  • Main text
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Bridging molecular genetics and biomarkers in lewy body and related disorders.

International Journal Of Alzheimer'S Disease
Ho, Gilbert J GJ; Liang, Willie W; Waragai, Masaaki M; Sekiyama, Kazunari K; Masliah, Eliezer E; Hashimoto, Makoto M
Publication Date: 2011

Variant appearance in text: PS1: N279K
PubMed Link: 21760990
Variant Present in the following documents:
  • IJAD2011-842475.pdf
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MRS in presymptomatic MAPT mutation carriers: a potential biomarker for tau-mediated pathology.

Neurology
Kantarci, K K; Boeve, B F BF; Wszolek, Z K ZK; Rademakers, R R; Whitwell, J L JL; Baker, M C MC; Senjem, M L ML; Samikoglu, A R AR; Knopman, D S DS; Petersen, R C RC; Jack, C R CR
Publication Date: 2010-08-31

Variant appearance in text: PS1: N279K
PubMed Link: 20805522
Variant Present in the following documents:
  • Main text
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The role of tau in Alzheimer's disease and related disorders.

Cns Neuroscience & Therapeutics
Medeiros, Rodrigo R; Baglietto-Vargas, David D; LaFerla, Frank M FM
Publication Date: 2011-10

Variant appearance in text: PS1: N279K
PubMed Link: 20553310
Variant Present in the following documents:
  • Main text
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Murine models of Alzheimer's disease and their use in developing immunotherapies.

Biochimica Et Biophysica Acta
Wisniewski, Thomas T; Sigurdsson, Einar M EM
Publication Date: 2010-10

Variant appearance in text: PS1: N279K
PubMed Link: 20471477
Variant Present in the following documents:
  • Main text
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Immunotherapeutic approaches for Alzheimer's disease in transgenic mouse models.

Brain Structure & Function
Wisniewski, Thomas T; Boutajangout, Allal A
Publication Date: 2010-03

Variant appearance in text: PS1: N279K
PubMed Link: 20012091
Variant Present in the following documents:
  • Main text
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Realistic expectations of prepulse inhibition in translational models for schizophrenia research.

Psychopharmacology
Swerdlow, Neal R NR; Weber, Martin M; Qu, Ying Y; Light, Gregory A GA; Braff, David L DL
Publication Date: 2008-08

Variant appearance in text: PS1: N279K
PubMed Link: 18568339
Variant Present in the following documents:
  • Main text
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Oxidative stress mediates tau-induced neurodegeneration in Drosophila.

The Journal Of Clinical Investigation
Dias-Santagata, Dora D; Fulga, Tudor A TA; Duttaroy, Atanu A; Feany, Mel B MB
Publication Date: 2007-01

Variant appearance in text: PS1: N279K
PubMed Link: 17173140
Variant Present in the following documents:
  • Main text
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