APP c.2079A>C ;(p.E693D)

Variant ID: 21-27264166-T-G

NM_000484.3(APP):c.2079A>C;(p.E693D)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


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: APP: E693D
PubMed Link: 35992771
Variant Present in the following documents:
  • Main text
  • rsfs.2022.0040.pdf
View BVdb publication page



Unraveling pathological mechanisms in neurological disorders: the impact of cell-based and organoid models.

Neural Regeneration Research
Langlie, Jake J; Mittal, Rahul R; Finberg, Ariel A; Bencie, Nathalie B NB; Mittal, Jeenu J; Omidian, Hossein H; Omidi, Yadollah Y; Eshraghi, Adrien A AA
Publication Date: 2022-10

Variant appearance in text: APP: E693D
PubMed Link: 35259819
Variant Present in the following documents:
  • NRR-17-2131.pdf
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: E693D
PubMed Link: 30958120
Variant Present in the following documents:
  • rsob-9-180177.pdf
View BVdb publication page



Overview and Current Status of Alzheimer's Disease in Bangladesh.

Journal Of Alzheimer'S Disease Reports
Rahman, Md Rashidur MR; Tajmim, Afsana A; Ali, Mohammad M; Sharif, Mostakim M
Publication Date: 2017-07-01

Variant appearance in text: APP: E693D
PubMed Link: 30480227
Variant Present in the following documents:
  • adr-1-adr170012.pdf
View BVdb publication page



Critical review: involvement of endoplasmic reticulum stress in the aetiology of Alzheimer's disease.

Open Biology
Hashimoto, Shoko S; Saido, Takaomi C TC
Publication Date: 2018-04

Variant appearance in text: APP: E693D
PubMed Link: 29695619
Variant Present in the following documents:
  • rsob-8-180024.pdf
View BVdb publication page



Cholesterol impairment contributes to neuroserpin aggregation.

Scientific Reports
Giampietro, Costanza C; Lionetti, Maria Chiara MC; Costantini, Giulio G; Mutti, Federico F; Zapperi, Stefano S; La Porta, Caterina A M CA
Publication Date: 2017-03-03

Variant appearance in text: APP: E693D
PubMed Link: 28255164
Variant Present in the following documents:
  • Main text
  • srep43669.pdf
View BVdb publication page



Induced pluripotent stem cells in Alzheimer's disease: applications for disease modeling and cell-replacement therapy.

Molecular Neurodegeneration
Yang, Juan J; Li, Song S; He, Xi-Biao XB; Cheng, Cheng C; Le, Weidong W
Publication Date: 2016-05-17

Variant appearance in text: APP: E693d
PubMed Link: 27184028
Variant Present in the following documents:
  • Main text
  • 13024_2016_Article_106.pdf
View BVdb publication page



Additional mechanisms conferring genetic susceptibility to Alzheimer's disease.

Frontiers In Cellular Neuroscience
Calero, Miguel M; Gómez-Ramos, Alberto A; Calero, Olga O; Soriano, Eduardo E; Avila, Jesús J; Medina, Miguel M
Publication Date: 2015

Variant appearance in text: APP: E693D
PubMed Link: 25914626
Variant Present in the following documents:
  • Main text
View BVdb publication page



Induced pluripotent stem cells and their use in cardiac and neural regenerative medicine.

International Journal Of Molecular Sciences
Skalova, Stepanka S; Svadlakova, Tereza T; Shaikh Qureshi, Wasay Mohiuddin WM; Dev, Kapil K; Mokry, Jaroslav J
Publication Date: 2015-02-13

Variant appearance in text: APP: E693D
PubMed Link: 25689424
Variant Present in the following documents:
  • Main text
  • ijms-16-04043.pdf
View BVdb publication page



Genetic diagnosis and prognosis of Alzheimer's disease: challenges and opportunities.

Expert Review Of Molecular Diagnostics
Reitz, Christiane C
Publication Date: 2015-03

Variant appearance in text: APP: E693D
PubMed Link: 25634383
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Biomed Research International
Pilotto, Andrea A; Padovani, Alessandro A; Borroni, Barbara B
Publication Date: 2013

Variant appearance in text: APP: E693D
PubMed Link: 24377094
Variant Present in the following documents:
  • Main text
  • BMRI2013-689591.pdf
View BVdb publication page



Early accumulation of intracellular fibrillar oligomers and late congophilic amyloid angiopathy in mice expressing the Osaka intra-Aβ APP mutation.

Translational Psychiatry
Kulic, L L; McAfoose, J J; Welt, T T; Tackenberg, C C; Späni, C C; Wirth, F F; Finder, V V; Konietzko, U U; Giese, M M; Eckert, A A; Noriaki, K K; Shimizu, T T; Murakami, K K; Irie, K K; Rasool, S S; Glabe, C C; Hock, C C; Nitsch, R M RM
Publication Date: 2012-11-13

Variant appearance in text: APP: E693D
PubMed Link: 23149447
Variant Present in the following documents:
  • tp2012109a.pdf
View BVdb publication page



Transgenic mouse models of Alzheimer disease: developing a better model as a tool for therapeutic interventions.

Current Pharmaceutical Design
Kitazawa, Masashi M; Medeiros, Rodrigo R; Laferla, Frank M FM
Publication Date: 2012

Variant appearance in text: APP: E693D
PubMed Link: 22288400
Variant Present in the following documents:
  • Main text
View BVdb publication page



Abnormal cognition, sleep, EEG and brain metabolism in a novel knock-in Alzheimer mouse, PLB1.

Plos One
Platt, Bettina B; Drever, Benjamin B; Koss, David D; Stoppelkamp, Sandra S; Jyoti, Amar A; Plano, Andrea A; Utan, Aneli A; Merrick, Georgina G; Ryan, Duncan D; Melis, Valeria V; Wan, Hong H; Mingarelli, Marco M; Porcu, Emanuele E; Scrocchi, Louise L; Welch, Andy A; Riedel, Gernot G
Publication Date: 2011

Variant appearance in text: APP: E693D
PubMed Link: 22096518
Variant Present in the following documents:
  • pone.0027068.pdf
View BVdb publication page



Current status on Alzheimer disease molecular genetics: from past, to present, to future.

Human Molecular Genetics
Bettens, Karolien K; Sleegers, Kristel K; Van Broeckhoven, Christine C
Publication Date: 2010-04-15

Variant appearance in text: APP: E693D
PubMed Link: 20388643
Variant Present in the following documents:
  • ddq142.pdf
View BVdb publication page



Studies of the aggregation of mutant proteins in vitro provide insights into the genetics of amyloid diseases.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chiti, Fabrizio F; Calamai, Martino M; Taddei, Niccolo N; Stefani, Massimo M; Ramponi, Giampietro G; Dobson, Christopher M CM
Publication Date: 2002-12-10

Variant appearance in text: APP: E693D
PubMed Link: 12374855
Variant Present in the following documents:
  • Main text
View BVdb publication page