APP c.2044G>A ;(p.E682K)

Variant ID: 21-27269905-C-T

NM_000484.3(APP):c.2044G>A;(p.E682K)

This variant was identified in 34 publications

View GRCh38 version.




Publications:


Dual-Specificity Protein Phosphatase 4 (DUSP4) Overexpression Improves Learning Behavior Selectively in Female 5xFAD Mice, and Reduces β-Amyloid Load in Males and Females.

Cells
Pan, Allen L AL; Audrain, Mickael M; Sakakibara, Emmy E; Joshi, Rajeev R; Zhu, Xiaodong X; Wang, Qian Q; Wang, Minghui M; Beckmann, Noam D ND; Schadt, Eric E EE; Gandy, Sam S; Zhang, Bin B; Ehrlich, Michelle E ME; Salton, Stephen R SR
Publication Date: 2022-12-01

Variant appearance in text: APP: E682K
PubMed Link: 36497141
Variant Present in the following documents:
  • cells-11-03880.pdf
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Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.

Frontiers In Aging Neuroscience
Liu, Yingzi Y; Xiao, Xuewen X; Liu, Hui H; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Liu, Xixi X; Bi, Xiang-Yun XY; Xu, Tianyan T; Zhu, Yuan Y; Yang, Qijie Q; Zhang, Sizhe S; Hao, Xiaoli X; Zhang, Weiwei W; Wang, Junling J; Jiao, Bin B; Shen, Lu L
Publication Date: 2022

Variant appearance in text: APP: E682K
PubMed Link: 36313020
Variant Present in the following documents:
  • Main text
  • fnagi-14-1013295.pdf
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Decoding Conformational Imprint of Convoluted Molecular Interactions Between Prenylflavonoids and Aggregated Amyloid-Beta42 Peptide Causing Alzheimer's Disease.

Frontiers In Chemistry
Srinivasan, E E; Chandrasekhar, G G; Chandrasekar, P P; Anbarasu, K K; Vickram, A S AS; Tayubi, Iftikhar Aslam IA; Rajasekaran, R R; Karunakaran, Rohini R
Publication Date: 2021

Variant appearance in text: APP: E682K
PubMed Link: 34988060
Variant Present in the following documents:
  • Main text
  • fchem-09-753146.pdf
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Is γ-secretase a beneficial inactivating enzyme of the toxic APP C-terminal fragment C99?

The Journal Of Biological Chemistry
Checler, Frédéric F; Afram, Elissa E; Pardossi-Piquard, Raphaëlle R; Lauritzen, Inger I
Publication Date: 2021

Variant appearance in text: APP: E682K
PubMed Link: 33662398
Variant Present in the following documents:
  • Main text
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Can Anti-β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?

Neurology. Genetics
Imbimbo, Bruno P BP; Lucca, Ugo U; Watling, Mark M
Publication Date: 2021-02

Variant appearance in text: APP: E682K
PubMed Link: 33575481
Variant Present in the following documents:
  • Main text
  • NG2020014183.pdf
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The protective mutation A673T in amyloid precursor protein gene decreases Aβ peptides production for 14 forms of Familial Alzheimer's Disease in SH-SY5Y cells.

Plos One
Guyon, Antoine A; Rousseau, Joël J; Lamothe, Gabriel G; Tremblay, Jacques P JP
Publication Date: 2020

Variant appearance in text: APP: E682K
PubMed Link: 33370284
Variant Present in the following documents:
  • Main text
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Comprehensive Review on Alzheimer's Disease: Causes and Treatment.

Molecules (Basel, Switzerland)
Breijyeh, Zeinab Z; Karaman, Rafik R
Publication Date: 2020-12-08

Variant appearance in text: APP: E682K
PubMed Link: 33302541
Variant Present in the following documents:
  • Main text
  • molecules-25-05789.pdf
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The β-Secretase BACE1 in Alzheimer's Disease.

Biological Psychiatry
Hampel, Harald H; Vassar, Robert R; De Strooper, Bart B; Hardy, John J; Willem, Michael M; Singh, Neeraj N; Zhou, John J; Yan, Riqiang R; Vanmechelen, Eugeen E; De Vos, Ann A; Nisticò, Robert R; Corbo, Massimo M; Imbimbo, Bruno Pietro BP; Streffer, Johannes J; Voytyuk, Iryna I; Timmers, Maarten M; Tahami Monfared, Amir Abbas AA; Irizarry, Michael M; Albala, Bruce B; Koyama, Akihiko A; Watanabe, Naoto N; Kimura, Teiji T; Yarenis, Lisa L; Lista, Simone S; Kramer, Lynn L; Vergallo, Andrea A
Publication Date: 2021-04-15

Variant appearance in text: APP: E682K
PubMed Link: 32223911
Variant Present in the following documents:
  • Main text
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The Alzheimer's Disease Amyloid-Beta Hypothesis in Cardiovascular Aging and Disease: JACC Focus Seminar.

Journal Of The American College Of Cardiology
Stakos, Dimitrios A DA; Stamatelopoulos, Kimon K; Bampatsias, Dimitrios D; Sachse, Marco M; Zormpas, Eleftherios E; Vlachogiannis, Nikolaos I NI; Tual-Chalot, Simon S; Stellos, Konstantinos K
Publication Date: 2020-03-03

Variant appearance in text: APP: E682K
PubMed Link: 32130931
Variant Present in the following documents:
  • mmc1.pdf
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Central and Peripheral Metabolic Defects Contribute to the Pathogenesis of Alzheimer's Disease: Targeting Mitochondria for Diagnosis and Prevention.

Antioxidants & Redox Signaling
Peng, Yunhua Y; Gao, Peipei P; Shi, Le L; Chen, Lei L; Liu, Jiankang J; Long, Jiangang J
Publication Date: 2020-06-01

Variant appearance in text: APP: E682K
PubMed Link: 32050773
Variant Present in the following documents:
  • Main text
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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications
Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH
Publication Date: 2019-07-12

Variant appearance in text: APP: E682K
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 5
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Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Aging And Disease
Bi, Christopher C; Bi, Stephanie S; Li, Bin B
Publication Date: 2019-04

Variant appearance in text: APP: E682K
PubMed Link: 31011484
Variant Present in the following documents:
  • Main text
  • ad-10-2-383.pdf
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Mutations of beta-amyloid precursor protein alter the consequence of Alzheimer's disease pathogenesis.

Neural Regeneration Research
Li, Nuo-Min NM; Liu, Ke-Fu KF; Qiu, Yun-Jie YJ; Zhang, Huan-Huan HH; Nakanishi, Hiroshi H; Qing, Hong H
Publication Date: 2019-04

Variant appearance in text: APP: E682K
PubMed Link: 30632506
Variant Present in the following documents:
  • Main text
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Visualization of Alzheimer's Disease Related α-/β-/γ-Secretase Ternary Complex by Bimolecular Fluorescence Complementation Based Fluorescence Resonance Energy Transfer.

Frontiers In Molecular Neuroscience
Wang, Xin X; Pei, Gang G
Publication Date: 2018

Variant appearance in text: APP: E682K
PubMed Link: 30538620
Variant Present in the following documents:
  • fnmol-11-00431.pdf
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The genes associated with early-onset Alzheimer's disease.

Oncotarget
Dai, Meng-Hui MH; Zheng, Hui H; Zeng, Ling-Dan LD; Zhang, Yan Y
Publication Date: 2018-03-13

Variant appearance in text: APP: E682K
PubMed Link: 29599933
Variant Present in the following documents:
  • Main text
  • oncotarget-09-15132.pdf
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Neurons derived from sporadic Alzheimer's disease iPSCs reveal elevated TAU hyperphosphorylation, increased amyloid levels, and GSK3B activation.

Alzheimer'S Research & Therapy
Ochalek, Anna A; Mihalik, Balázs B; Avci, Hasan X HX; Chandrasekaran, Abinaya A; Téglási, Annamária A; Bock, István I; Giudice, Maria Lo ML; Táncos, Zsuzsanna Z; Molnár, Kinga K; László, Lajos L; Nielsen, Jørgen E JE; Holst, Bjørn B; Freude, Kristine K; Hyttel, Poul P; Kobolák, Julianna J; Dinnyés, András A
Publication Date: 2017-12-01

Variant appearance in text: APP: E682K
PubMed Link: 29191219
Variant Present in the following documents:
  • 13195_2017_Article_317.pdf
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Physiological and pathophysiological control of synaptic GluN2B-NMDA receptors by the C-terminal domain of amyloid precursor protein.

Elife
Pousinha, Paula A PA; Mouska, Xavier X; Raymond, Elisabeth F EF; Gwizdek, Carole C; Dhib, Gihen G; Poupon, Gwenola G; Zaragosi, Laure-Emmanuelle LE; Giudici, Camilla C; Bethus, Ingrid I; Pacary, Emilie E; Willem, Michael M; Marie, Hélène H
Publication Date: 2017-07-06

Variant appearance in text: APP: E682K
PubMed Link: 28682239
Variant Present in the following documents:
  • Main text
  • elife-25659.pdf
View BVdb publication page



Untangling Genetic Risk for Alzheimer's Disease.

Biological Psychiatry
Pimenova, Anna A AA; Raj, Towfique T; Goate, Alison M AM
Publication Date: 2018-02-15

Variant appearance in text: APP: E682K
PubMed Link: 28666525
Variant Present in the following documents:
  • Main text
View BVdb publication page



BACE1 Cleavage Site Selection Critical for Amyloidogenesis and Alzheimer's Pathogenesis.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Zhang, Shuting S; Wang, Zhe Z; Cai, Fang F; Zhang, Mingming M; Wu, Yili Y; Zhang, Jing J; Song, Weihong W
Publication Date: 2017-07-19

Variant appearance in text: APP: E682K
PubMed Link: 28626014
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease.

Cold Spring Harbor Perspectives In Medicine
Tcw, Julia J; Goate, Alison M AM
Publication Date: 2017-06-01

Variant appearance in text: APP: E682K
PubMed Link: 28003277
Variant Present in the following documents:
  • Main text
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Alternative Selection of β-Site APP-Cleaving Enzyme 1 (BACE1) Cleavage Sites in Amyloid β-Protein Precursor (APP) Harboring Protective and Pathogenic Mutations within the Aβ Sequence.

The Journal Of Biological Chemistry
Kimura, Ayano A; Hata, Saori S; Suzuki, Toshiharu T
Publication Date: 2016-11-11

Variant appearance in text: APP: E682K
PubMed Link: 27687728
Variant Present in the following documents:
  • Main text
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Alzheimer's disease-associated mutations increase amyloid precursor protein resistance to γ-secretase cleavage and the Aβ42/Aβ40 ratio.

Cell Discovery
Xu, Ting-Hai TH; Yan, Yan Y; Kang, Yanyong Y; Jiang, Yi Y; Melcher, Karsten K; Xu, H Eric HE
Publication Date: 2016

Variant appearance in text: APP: E682K
PubMed Link: 27625790
Variant Present in the following documents:
  • celldisc201626-s1.pdf
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Genes associated with Alzheimer's disease: an overview and current status.

Clinical Interventions In Aging
Giri, Mohan M; Zhang, Man M; Lü, Yang Y
Publication Date: 2016

Variant appearance in text: APP: Glu682Lys
PubMed Link: 27274215
Variant Present in the following documents:
  • Main text
  • cia-11-665.pdf
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Genomics of Alzheimer Disease: A Review.

Jama Neurology
Rosenberg, Roger N RN; Lambracht-Washington, Doris D; Yu, Gang G; Xia, Weiming W
Publication Date: 2016-07-01

Variant appearance in text: APP: E682K
PubMed Link: 27135718
Variant Present in the following documents:
  • Main text
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Presynaptic dystrophic neurites surrounding amyloid plaques are sites of microtubule disruption, BACE1 elevation, and increased Aβ generation in Alzheimer's disease.

Acta Neuropathologica
Sadleir, Katherine R KR; Kandalepas, Patty C PC; Buggia-Prévot, Virginie V; Nicholson, Daniel A DA; Thinakaran, Gopal G; Vassar, Robert R
Publication Date: 2016-08

Variant appearance in text: APP: E682K
PubMed Link: 26993139
Variant Present in the following documents:
  • Main text
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Diagnostic value of cerebrospinal fluid Aβ ratios in preclinical Alzheimer's disease.

Alzheimer'S Research & Therapy
Adamczuk, Katarzyna K; Schaeverbeke, Jolien J; Vanderstichele, Hugo M J HM; Lilja, Johan J; Nelissen, Natalie N; Van Laere, Koen K; Dupont, Patrick P; Hilven, Kelly K; Poesen, Koen K; Vandenberghe, Rik R
Publication Date: 2015-12-18

Variant appearance in text: APP: E682K
PubMed Link: 26677842
Variant Present in the following documents:
  • 13195_2015_Article_159.pdf
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Unfolded Protein Response and PERK Kinase as a New Therapeutic Target in the Pathogenesis of Alzheimer's Disease.

Current Medicinal Chemistry
Rozpedek, Wioletta W; Markiewicz, Lukasz L; Diehl, J Alan JA; Pytel, Dariusz D; Majsterek, Ireneusz I
Publication Date: 2015

Variant appearance in text: APP: E682K
PubMed Link: 26282939
Variant Present in the following documents:
  • Main text
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Two distinct β-sheet structures in Italian-mutant amyloid-beta fibrils: a potential link to different clinical phenotypes.

Cellular And Molecular Life Sciences : Cmls
Hubin, Ellen E; Deroo, Stéphanie S; Schierle, Gabriele Kaminksi GK; Kaminski, Clemens C; Serpell, Louise L; Subramaniam, Vinod V; van Nuland, Nico N; Broersen, Kerensa K; Raussens, Vincent V; Sarroukh, Rabia R
Publication Date: 2015-12

Variant appearance in text: APP: E682K
PubMed Link: 26190022
Variant Present in the following documents:
  • 18_2015_Article_1983.pdf
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Specific antibody binding to the APP672-699 region shifts APP processing from α- to β-cleavage.

Cell Death & Disease
Li, S S; Deng, J J; Hou, H H; Tian, J J; Giunta, B B; Wang, Y Y; Sawmiller, D D; Smith, A A; Sanberg, P R PR; Obregon, D D; Mori, T T; Tan, J J
Publication Date: 2014-08-14

Variant appearance in text: APP: E682K
PubMed Link: 25118934
Variant Present in the following documents:
  • cddis2014336a.pdf
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Icariin decreases the expression of APP and BACE-1 and reduces the β-amyloid burden in an APP transgenic mouse model of Alzheimer's disease.

International Journal Of Biological Sciences
Zhang, Lan L; Shen, Cong C; Chu, Jin J; Zhang, Ruyi R; Li, Yali Y; Li, Lin L
Publication Date: 2014

Variant appearance in text: APP: E682K
PubMed Link: 24550686
Variant Present in the following documents:
  • ijbsv10p0181.pdf
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Protein fragments: functional and structural roles of their coevolution networks.

Plos One
Dib, Linda L; Carbone, Alessandra A
Publication Date: 2012

Variant appearance in text: APP: E682K
PubMed Link: 23139761
Variant Present in the following documents:
  • pone.0048124.pdf
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The mechanism of γ-Secretase dysfunction in familial Alzheimer disease.

The Embo Journal
Chávez-Gutiérrez, Lucía L; Bammens, Leen L; Benilova, Iryna I; Vandersteen, Annelies A; Benurwar, Manasi M; Borgers, Marianne M; Lismont, Sam S; Zhou, Lujia L; Van Cleynenbreugel, Simon S; Esselmann, Hermann H; Wiltfang, Jens J; Serneels, Lutgarde L; Karran, Eric E; Gijsen, Harrie H; Schymkowitz, Joost J; Rousseau, Frederic F; Broersen, Kerensa K; De Strooper, Bart B
Publication Date: 2012-05-16

Variant appearance in text: APP: E682K
PubMed Link: 22505025
Variant Present in the following documents:
  • emboj201279a.pdf
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A new way APP mismetabolism can lead to Alzheimer's disease.

Embo Molecular Medicine
Hardy, John J; Guerreiro, Rita R
Publication Date: 2011-05

Variant appearance in text: APP: E682K
PubMed Link: 21523909
Variant Present in the following documents:
  • Main text
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Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β'-site increases Aβ generation.

Embo Molecular Medicine
Zhou, Lujia L; Brouwers, Nathalie N; Benilova, Iryna I; Vandersteen, Annelies A; Mercken, Marc M; Van Laere, Koen K; Van Damme, Philip P; Demedts, David D; Van Leuven, Fred F; Sleegers, Kristel K; Broersen, Kerensa K; Van Broeckhoven, Christine C; Vandenberghe, Rik R; De Strooper, Bart B
Publication Date: 2011-05

Variant appearance in text: APP: E682K
PubMed Link: 21500352
Variant Present in the following documents:
  • Main text
  • emmm0003-0291-SD2.pdf
  • emmm0003-0291.pdf
  • emmm0003-0291-SD1.pdf
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