APP c.2172G>T ;(p.K724N)

Variant ID: 21-27264073-C-A

NM_000484.3(APP):c.2172G>T;(p.K724N)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


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: APP: K724N
PubMed Link: 36430432
Variant Present in the following documents:
  • Main text
  • ijms-23-13954.pdf
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: APP: K724N
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



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: K724N
PubMed Link: 33370284
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: K724N
PubMed Link: 33302541
Variant Present in the following documents:
  • Main text
  • molecules-25-05789.pdf
View BVdb publication page



Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Neurobiology Of Disease
Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM
Publication Date: 2020-06

Variant appearance in text: APP: K724N
PubMed Link: 32087291
Variant Present in the following documents:
  • Main text
  • NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2
  • nihms-1588025.pdf
View BVdb publication page



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: K724N
PubMed Link: 32050773
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: K724N
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 5
View BVdb publication page



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: K724N
PubMed Link: 31011484
Variant Present in the following documents:
  • Main text
View BVdb publication page



Opportunities and challenges for the use of induced pluripotent stem cells in modelling neurodegenerative disease.

Open Biology
Wu, Yi-Ying YY; Chiu, Feng-Lan FL; Yeh, Chan-Shien CS; Kuo, Hung-Chih HC
Publication Date: 2019-01-31

Variant appearance in text: APP: K724N
PubMed Link: 30958120
Variant Present in the following documents:
  • Main text
  • rsob-9-180177.pdf
View BVdb publication page



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: K724N
PubMed Link: 29599933
Variant Present in the following documents:
  • Main text
  • oncotarget-09-15132.pdf
View BVdb publication page



Induction of Amyloid-β42 Production by Fipronil and Other Pyrazole Insecticides.

Journal Of Alzheimer'S Disease : Jad
Cam, Morgane M; Durieu, Emilie E; Bodin, Marion M; Manousopoulou, Antigoni A; Koslowski, Svenja S; Vasylieva, Natalia N; Barnych, Bogdan B; Hammock, Bruce D BD; Bohl, Bettina B; Koch, Philipp P; Omori, Chiori C; Yamamoto, Kazuo K; Hata, Saori S; Suzuki, Toshiharu T; Karg, Frank F; Gizzi, Patrick P; Erakovic Haber, Vesna V; Bencetic Mihaljevic, Vlatka V; Tavcar, Branka B; Portelius, Erik E; Pannee, Josef J; Blennow, Kaj K; Zetterberg, Henrik H; Garbis, Spiros D SD; Auvray, Pierrick P; Gerber, Hermeto H; Fraering, Jeremy J; Fraering, Patrick C PC; Meijer, Laurent L
Publication Date: 2018

Variant appearance in text: APP: K724N
PubMed Link: 29504531
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: K724N
PubMed Link: 28003277
Variant Present in the following documents:
  • Main text
View BVdb publication page



Induced pluripotent stem cell technology: a decade of progress.

Nature Reviews. Drug Discovery
Shi, Yanhong Y; Inoue, Haruhisa H; Wu, Joseph C JC; Yamanaka, Shinya S
Publication Date: 2017-02

Variant appearance in text: APP: K724N
PubMed Link: 27980341
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: K724N
PubMed Link: 27625790
Variant Present in the following documents:
  • celldisc201626-s1.pdf
View BVdb publication page



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: K724N
PubMed Link: 27135718
Variant Present in the following documents:
  • Main text
View BVdb publication page



Probing the secrets of Alzheimer's disease using human-induced pluripotent stem cell technology.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
Goldstein, Lawrence S B LS; Reyna, Sol S; Woodruff, Grace G
Publication Date: 2015-01

Variant appearance in text: APP: K724N
PubMed Link: 25534395
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of Alzheimer's disease.

Clinical Interventions In Aging
Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S
Publication Date: 2014

Variant appearance in text: APP: Lys724Asn
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page



APP processing in human pluripotent stem cell-derived neurons is resistant to NSAID-based γ-secretase modulation.

Stem Cell Reports
Mertens, Jerome J; Stüber, Kathrin K; Wunderlich, Patrick P; Ladewig, Julia J; Kesavan, Jaideep C JC; Vandenberghe, Rik R; Vandenbulcke, Mathieu M; van Damme, Philip P; Walter, Jochen J; Brüstle, Oliver O; Koch, Philipp P
Publication Date: 2013

Variant appearance in text: APP: K724N
PubMed Link: 24371804
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page



Using Pittsburgh Compound B for in vivo PET imaging of fibrillar amyloid-beta.

Advances In Pharmacology (San Diego, Calif.)
Cohen, Ann D AD; Rabinovici, Gil D GD; Mathis, Chester A CA; Jagust, William J WJ; Klunk, William E WE; Ikonomovic, Milos D MD
Publication Date: 2012

Variant appearance in text: APP: K724N
PubMed Link: 22840744
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease.

Alzheimer'S Research & Therapy
Weggen, Sascha S; Beher, Dirk D
Publication Date: 2012-03-30

Variant appearance in text: APP: K724N
PubMed Link: 22494386
Variant Present in the following documents:
  • alzrt107.pdf
View BVdb publication page



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: K724N
PubMed Link: 21500352
Variant Present in the following documents:
  • Main text
  • emmm0003-0291.pdf
View BVdb publication page



Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Klunk, William E WE; Price, Julie C JC; Mathis, Chester A CA; Tsopelas, Nicholas D ND; Lopresti, Brian J BJ; Ziolko, Scott K SK; Bi, Wenzhu W; Hoge, Jessica A JA; Cohen, Ann D AD; Ikonomovic, Milos D MD; Saxton, Judith A JA; Snitz, Beth E BE; Pollen, Daniel A DA; Moonis, Majaz M; Lippa, Carol F CF; Swearer, Joan M JM; Johnson, Keith A KA; Rentz, Dorene M DM; Fischman, Alan J AJ; Aizenstein, Howard J HJ; DeKosky, Steven T ST
Publication Date: 2007-06-06

Variant appearance in text: APP: K724N
PubMed Link: 17553989
Variant Present in the following documents:
  • Main text
View BVdb publication page