APP c.2149G>A ;(p.V717I)

Variant ID: 21-27264096-C-T

NM_000484.3(APP):c.2149G>A;(p.V717I)

This variant was identified in 881 publications

View GRCh38 version.




Publications:


Ginsenoside Rg1 ameliorates Alzheimer's disease pathology via restoring mitophagy.

Journal Of Ginseng Research
Wang, Ni N; Yang, Junyan J; Chen, Ruijun R; Liu, Yunyun Y; Liu, Shunjie S; Pan, Yining Y; Lei, Qingfeng Q; Wang, Yuzhou Y; He, Lu L; Song, Youqiang Y; Li, Zhong Z
Publication Date: 2023-05

Variant appearance in text: APP: V717I
PubMed Link: 37252274
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Imaging of Tauopathies with PET Ligands: State of the Art and Future Outlook.

Diagnostics (Basel, Switzerland)
Conte, Miriam M; De Feo, Maria Silvia MS; Sidrak, Marko Magdi Abdou MMA; Corica, Ferdinando F; Gorica, Joana J; Granese, Giorgia Maria GM; Filippi, Luca L; De Vincentis, Giuseppe G; Frantellizzi, Viviana V
Publication Date: 2023-05-09

Variant appearance in text: APP: V717I
PubMed Link: 37238166
Variant Present in the following documents:
  • diagnostics-13-01682.pdf
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The Effect of Ethanol Extract from Mesua ferrea Linn Flower on Alzheimer's Disease and Its Underlying Mechanism.

Current Issues In Molecular Biology
Plekratoke, Kusawadee K; Boonyarat, Chantana C; Monthakantirat, Orawan O; Nualkaew, Natsajee N; Wangboonskul, Jinda J; Awale, Suresh S; Chulikhit, Yaowared Y; Daodee, Supawadee S; Khamphukdee, Charinya C; Chaiwiwatrakul, Suchada S; Waiwut, Pornthip P
Publication Date: 2023-05-06

Variant appearance in text: APP: V717I
PubMed Link: 37232728
Variant Present in the following documents:
  • cimb-45-00259.pdf
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Senescence-related impairment of autophagy induces toxic intraneuronal amyloid-β accumulation in a mouse model of amyloid pathology.

Acta Neuropathologica Communications
Suelves, Nuria N; Saleki, Shirine S; Ibrahim, Tasha T; Palomares, Debora D; Moonen, Sebastiaan S; Koper, Marta J MJ; Vrancx, Céline C; Vadukul, Devkee M DM; Papadopoulos, Nicolas N; Viceconte, Nikenza N; Claude, Eloïse E; Vandenberghe, Rik R; von Arnim, Christine A F CAF; Constantinescu, Stefan N SN; Thal, Dietmar Rudolf DR; Decottignies, Anabelle A; Kienlen-Campard, Pascal P
Publication Date: 2023-05-17

Variant appearance in text: APP: V717I
PubMed Link: 37198698
Variant Present in the following documents:
  • Main text
  • 40478_2023_Article_1578.pdf
View BVdb publication page



A Systematic Review on Dementia and Translocator Protein (TSPO): When Nuclear Medicine Highlights an Underlying Expression.

Biomolecules
Conte, Miriam M; De Feo, Maria Silvia MS; Corica, Ferdinando F; Gorica, Joana J; Sidrak, Marko Magdi Abdou MMA; De Cristofaro, Flaminia F; Filippi, Luca L; Ricci, Maria M; De Vincentis, Giuseppe G; Frantellizzi, Viviana V
Publication Date: 2023-03-26

Variant appearance in text: APP: V717I
PubMed Link: 37189346
Variant Present in the following documents:
  • biomolecules-13-00598.pdf
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Proteomic Exploration of Paraoxonase 1 Function in Health and Disease.

International Journal Of Molecular Sciences
Jakubowski, Hieronim H
Publication Date: 2023-04-24

Variant appearance in text: APP: V717I
PubMed Link: 37175471
Variant Present in the following documents:
  • Main text
  • ijms-24-07764.pdf
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Human iPSC-Derived Hippocampal Spheroids: An Innovative Tool for Stratifying Alzheimer Disease Patient-Specific Cellular Phenotypes and Developing Therapies.

Stem Cell Reports
Pomeshchik, Yuriy Y; Klementieva, Oxana O; Gil, Jeovanis J; Martinsson, Isak I; Hansen, Marita Grønning MG; de Vries, Tessa T; Sancho-Balsells, Anna A; Russ, Kaspar K; Savchenko, Ekaterina E; Collin, Anna A; Vaz, Ana Rita AR; Bagnoli, Silvia S; Nacmias, Benedetta B; Rampon, Claire C; Sorbi, Sandro S; Brites, Dora D; Marko-Varga, György G; Kokaia, Zaal Z; Rezeli, Melinda M; Gouras, Gunnar K GK; Roybon, Laurent L
Publication Date: 2023-05-09

Variant appearance in text: APP: V717I
PubMed Link: 37163981
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



A comparison of machine learning approaches for the quantification of microglial cells in the brain of mice, rats and non-human primates.

Plos One
Anwer, Danish M DM; Gubinelli, Francesco F; Kurt, Yunus A YA; Sarauskyte, Livija L; Jacobs, Febe F; Venuti, Chiara C; Sandoval, Ivette M IM; Yang, Yiyi Y; Stancati, Jennifer J; Mazzocchi, Martina M; Brandi, Edoardo E; O'Keeffe, Gerard G; Steece-Collier, Kathy K; Li, Jia-Yi JY; Deierborg, Tomas T; Manfredsson, Fredric P FP; Davidsson, Marcus M; Heuer, Andreas A
Publication Date: 2023

Variant appearance in text: APP: V717I
PubMed Link: 37126506
Variant Present in the following documents:
  • Main text
  • pone.0284480.pdf
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Alzheimer's disease-specific cytokine secretion suppresses neuronal mitochondrial metabolism.

Biorxiv : The Preprint Server For Biology
Kuhn, Madison K MK; Fleeman, Rebecca M RM; Beidler, Lynne M LM; Snyder, Amanda M AM; Chan, Dennis C DC; Proctor, Elizabeth A EA
Publication Date: 2023-04-07

Variant appearance in text: APP: V717I
PubMed Link: 37066287
Variant Present in the following documents:
  • Main text
  • nihpp-2023.04.07.536014v1.pdf
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Long-Term Administration of Vespa velutina nigrithorax Venom Ameliorates Alzheimer's Phenotypes in 5xFAD Transgenic Mice.

Toxins
Jeong, Yoon Ah YA; Yun, Hyun Seok HS; Kim, Yoonsu Y; Jang, Chan Ho CH; Lim, Ji Sun JS; Kim, Hyo Jung HJ; Choi, Moon Bo MB; Jung, Jae Woo JW; Oh, Jisun J; Kim, Jong-Sang JS
Publication Date: 2023-03-06

Variant appearance in text: APP: V717I
PubMed Link: 36977094
Variant Present in the following documents:
  • Main text
  • toxins-15-00203.pdf
View BVdb publication page



Neutrophils as a potential therapeutic target in Alzheimer's disease.

Frontiers In Immunology
Aries, Michelle L ML; Hensley-McBain, Tiffany T
Publication Date: 2023

Variant appearance in text: APP: V717I
PubMed Link: 36936930
Variant Present in the following documents:
  • Main text
  • fimmu-14-1123149.pdf
View BVdb publication page



EMBER multidimensional spectral microscopy enables quantitative determination of disease- and cell-specific amyloid strains.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Yang, Hyunjun H; Yuan, Peng P; Wu, Yibing Y; Shi, Marie M; Caro, Christoffer D CD; Tengeiji, Atsushi A; Yamanoi, Shigeo S; Inoue, Masahiro M; DeGrado, William F WF; Condello, Carlo C
Publication Date: 2023-03-21

Variant appearance in text: APP: V717I
PubMed Link: 36927157
Variant Present in the following documents:
  • pnas.2300769120.sapp.pdf
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Attenuation of Alzheimer's brain pathology in 5XFAD mice by PTH1-34, a peptide of parathyroid hormone.

Alzheimer'S Research & Therapy
Chen, Li L; Xiong, Lei L; Yao, Lingling L; Pan, Jinxiu J; Arzola, Emily E; Zhu, Xiaojuan X; Mei, Lin L; Xiong, Wen-Cheng WC
Publication Date: 2023-03-14

Variant appearance in text: APP: V717I
PubMed Link: 36918976
Variant Present in the following documents:
  • Main text
  • 13195_2023_Article_1202.pdf
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Sex Differences between Neuronal Loss and the Early Onset of Amyloid Deposits and Behavioral Consequences in 5xFAD Transgenic Mouse as a Model for Alzheimer's Disease.

Cells
Poon, Chi Him CH; Wong, San Tung Nicholas STN; Roy, Jaydeep J; Wang, Yingyi Y; Chan, Hui Wang Hujo HWH; Steinbusch, Harry H; Blokland, Arjan A; Temel, Yasin Y; Aquili, Luca L; Lim, Lee Wei LW
Publication Date: 2023-03-01

Variant appearance in text: APP: V717I
PubMed Link: 36899916
Variant Present in the following documents:
  • Main text
  • cells-12-00780.pdf
View BVdb publication page



Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.

Brain Communications
Ringman, John M JM; Dorrani, Naghmeh N; Fernández, Sara Gutiérrez SG; Signer, Rebecca R; Martinez-Agosto, Julian J; Lee, Hane H; Douine, Emilie D ED; Qiao, Yuchuan Y; Shi, Yonggang Y; D'Orazio, Lina L; Pawar, Sanjay S; Robbie, Leah L; Kashani, Amir H AH; Singer, Maxwell M; Byers, Joshua T JT; Magaki, Shino S; Guzman, Sam S; Sagare, Abhay A; Zlokovic, Berislav B; Cederbaum, Stephen S; Nelson, Stanley S; Sheikh-Bahaei, Nasim N; Chui, Helena C HC; Chávez-Gutiérrez, Lucía L; Vinters, Harry V HV
Publication Date: 2023

Variant appearance in text: APP: V717I
PubMed Link: 36895955
Variant Present in the following documents:
  • Main text
  • fcad030.pdf
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From attention-deficit hyperactivity disorder to sporadic Alzheimer's disease-Wnt/mTOR pathways hypothesis.

Frontiers In Neuroscience
Grünblatt, Edna E; Homolak, Jan J; Babic Perhoc, Ana A; Davor, Virag V; Knezovic, Ana A; Osmanovic Barilar, Jelena J; Riederer, Peter P; Walitza, Susanne S; Tackenberg, Christian C; Salkovic-Petrisic, Melita M
Publication Date: 2023

Variant appearance in text: APP: V717I
PubMed Link: 36875654
Variant Present in the following documents:
  • Main text
  • fnins-17-1104985.pdf
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CREB3L2-ATF4 heterodimerization defines a transcriptional hub of Alzheimer's disease gene expression linked to neuropathology.

Science Advances
Gouveia Roque, Cláudio C; Chung, Kyung Min KM; McCurdy, Ethan P EP; Jagannathan, Radhika R; Randolph, Lisa K LK; Herline-Killian, Krystal K; Baleriola, Jimena J; Hengst, Ulrich U
Publication Date: 2023-03-03

Variant appearance in text: APP: V717I
PubMed Link: 36867706
Variant Present in the following documents:
  • Main text
  • sciadv.add2671.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: APP: 2149G>A; Val717Ile
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Targeting galectin-3 to counteract spike-phase uncoupling of fast-spiking interneurons to gamma oscillations in Alzheimer's disease.

Translational Neurodegeneration
Arroyo-García, Luis Enrique LE; Bachiller, Sara S; Ruiz, Rocío R; Boza-Serrano, Antonio A; Rodríguez-Moreno, Antonio A; Deierborg, Tomas T; Andrade-Talavera, Yuniesky Y; Fisahn, André A
Publication Date: 2023-02-06

Variant appearance in text: APP: V717I
PubMed Link: 36740709
Variant Present in the following documents:
  • 40035_2023_Article_338.pdf
View BVdb publication page



Noncanonical regulation of imprinted gene Igf2 by amyloid-beta 1-42 in Alzheimer's disease.

Scientific Reports
Fertan, Emre E; Gendron, William H WH; Wong, Aimée A AA; Hanson, Gabrielle M GM; Brown, Richard E RE; Weaver, Ian C G ICG
Publication Date: 2023-02-04

Variant appearance in text: APP: V717I
PubMed Link: 36739453
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_29248.pdf
View BVdb publication page



TNEA therapy promotes the autophagic degradation of NLRP3 inflammasome in a transgenic mouse model of Alzheimer's disease via TFEB/TFE3 activation.

Journal Of Neuroinflammation
Lin, Wenjia W; Li, Zhao Z; Liang, Guangfeng G; Zhou, Runjin R; Zheng, Xiaoyan X; Tao, Rongrong R; Huo, Qingwei Q; Su, Chengfu C; Li, Min M; Xu, Nenggui N; Tang, Chunzhi C; Song, Ju-Xian JX
Publication Date: 2023-02-02

Variant appearance in text: APP: V717I
PubMed Link: 36732771
Variant Present in the following documents:
  • Main text
  • 12974_2023_Article_2698.pdf
View BVdb publication page



Anti-malaria drug artesunate prevents development of amyloid-β pathology in mice by upregulating PICALM at the blood-brain barrier.

Molecular Neurodegeneration
Kisler, Kassandra K; Sagare, Abhay P AP; Lazic, Divna D; Bazzi, Sam S; Lawson, Erica E; Hsu, Ching-Ju CJ; Wang, Yaoming Y; Ramanathan, Anita A; Nelson, Amy R AR; Zhao, Zhen Z; Zlokovic, Berislav V BV
Publication Date: 2023-01-27

Variant appearance in text: APP: V717I
PubMed Link: 36707892
Variant Present in the following documents:
  • Main text
  • 13024_2023_Article_597.pdf
View BVdb publication page



Leveraging genetic diversity in mice to inform individual differences in brain microstructure and memory.

Frontiers In Behavioral Neuroscience
Murdy, Thomas J TJ; Dunn, Amy R AR; Singh, Surjeet S; Telpoukhovskaia, Maria A MA; Zhang, Shanrong S; White, Jacqueline K JK; Kahn, Itamar I; Febo, Marcelo M; Kaczorowski, Catherine C CC
Publication Date: 2022

Variant appearance in text: APP: V717I
PubMed Link: 36703722
Variant Present in the following documents:
  • Main text
  • fnbeh-16-1033975.pdf
View BVdb publication page



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: APP: Val717Ile; rs63750264
PubMed Link: 36614266
Variant Present in the following documents:
  • Main text
  • ijms-24-00823.pdf
View BVdb publication page



Preclinical Models for Alzheimer's Disease: Past, Present, and Future Approaches.

Acs Omega
Akhtar, Ansab A; Gupta, Shraddha M SM; Dwivedi, Shubham S; Kumar, Devendra D; Shaikh, Mohd Farooq MF; Negi, Arvind A
Publication Date: 2022-12-27

Variant appearance in text: APP: V717I
PubMed Link: 36591205
Variant Present in the following documents:
  • Main text
  • ao2c05609.pdf
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Novel Algorithm of Network Calcium Dynamics Analysis for Studying the Role of Astrocytes in Neuronal Activity in Alzheimer's Disease Models.

International Journal Of Molecular Sciences
Mitroshina, Elena V EV; Pakhomov, Alexander M AM; Krivonosov, Mikhail I MI; Yarkov, Roman S RS; Gavrish, Maria S MS; Shkirin, Alexey V AV; Ivanchenko, Mikhail V MV; Vedunova, Maria V MV
Publication Date: 2022-12-14

Variant appearance in text: APP: V717I
PubMed Link: 36555569
Variant Present in the following documents:
  • Main text
  • ijms-23-15928.pdf
View BVdb publication page



The Contribution of the Locus Coeruleus-Noradrenaline System Degeneration during the Progression of Alzheimer's Disease.

Biology
Mercan, Dilek D; Heneka, Michael Thomas MT
Publication Date: 2022-12-14

Variant appearance in text: APP: V717I
PubMed Link: 36552331
Variant Present in the following documents:
  • Main text
  • biology-11-01822.pdf
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Amphiphilic stilbene derivatives attenuate the neurotoxicity of soluble Aβ42 oligomers by controlling their interactions with cell membranes.

Chemical Science
Yu, Zhengxin Z; Guo, Weijie W; Patel, Shrey S; Cho, Hong-Jun HJ; Sun, Liang L; Mirica, Liviu M LM
Publication Date: 2022-11-09

Variant appearance in text: APP: V717I
PubMed Link: 36519059
Variant Present in the following documents:
  • SC-013-D2SC02654F-s001.pdf
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Comprehensive analysis of dysregulated circular RNAs and construction of a ceRNA network involved in the pathology of Alzheimer's disease in a 5 × FAD mouse model.

Frontiers In Aging Neuroscience
Sun, Ting T; Zeng, Li L; Cai, Zhongdi Z; Liu, Qingshan Q; Li, Zhuorong Z; Liu, Rui R
Publication Date: 2022

Variant appearance in text: APP: V717I
PubMed Link: 36466608
Variant Present in the following documents:
  • Main text
  • fnagi-14-1020699.pdf
View BVdb publication page



Aryloxypropanolamine targets amyloid aggregates and reverses Alzheimer-like phenotypes in Alzheimer mouse models.

Alzheimer'S Research & Therapy
Lee, Hee Yang HY; Yoon, Soljee S; Lee, Jeong Hwa JH; Park, Keunwan K; Jung, Youngeun Y; Cho, Illhwan I; Lee, Donghee D; Shin, Jisu J; Kim, Kyeonghwan K; Kim, Sunmi S; Kim, Jimin J; Kim, Koeun K; Han, Seung Hoon SH; Kim, Seong Muk SM; Kim, Hye Ju HJ; Kim, Hye Yun HY; Kim, Ikyon I; Kim, Young Soo YS
Publication Date: 2022-11-29

Variant appearance in text: APP: V717I
PubMed Link: 36443837
Variant Present in the following documents:
  • Main text
  • 13195_2022_Article_1112.pdf
View BVdb publication page



Therapeutic Potential of Targeting Mitochondria for Alzheimer's Disease Treatment.

Journal Of Clinical Medicine
Atlante, Anna A; Amadoro, Giuseppina G; Latina, Valentina V; Valenti, Daniela D
Publication Date: 2022-11-14

Variant appearance in text: APP: V717I
PubMed Link: 36431219
Variant Present in the following documents:
  • Main text
  • jcm-11-06742.pdf
View BVdb publication page



MicroRNA super-resolution imaging in blood for Alzheimer's disease.

Bmb Reports
Lee, Mirae M; Woo, Jiwon J; Kim, Sang Tae ST; Moon, Minho M; Kim, Sang Yun SY; Cho, Hanna H; Kim, Sujin S; Kim, Han-Kyeol HK; Park, Jeong-Yoon JY
Publication Date: 2022-11-21

Variant appearance in text: APP: V717I
PubMed Link: 36404596
Variant Present in the following documents:
  • bmb-56-3-190-supple.pdf
View BVdb publication page



The Hidden Role of Non-Canonical Amyloid β Isoforms in Alzheimer's Disease.

Cells
Busch, Lukas L; Eggert, Simone S; Endres, Kristina K; Bufe, Bernd B
Publication Date: 2022-10-29

Variant appearance in text: APP: V717I
PubMed Link: 36359817
Variant Present in the following documents:
  • Main text
  • cells-11-03421.pdf
View BVdb publication page



Fats, Friends or Foes: Investigating the Role of Short- and Medium-Chain Fatty Acids in Alzheimer's Disease.

Biomedicines
Ameen, Aishat O AO; Freude, Kristine K; Aldana, Blanca I BI
Publication Date: 2022-11-01

Variant appearance in text: APP: V717I
PubMed Link: 36359298
Variant Present in the following documents:
  • Main text
  • biomedicines-10-02778.pdf
View BVdb publication page



Review of Advanced Drug Trials Focusing on the Reduction of Brain Beta-Amyloid to Prevent and Treat Dementia.

Journal Of Experimental Pharmacology
Decourt, Boris B; Noorda, Keith K; Noorda, Kevin K; Shi, Jiong J; Sabbagh, Marwan N MN
Publication Date: 2022

Variant appearance in text: APP: V717I
PubMed Link: 36339394
Variant Present in the following documents:
  • Main text
  • jep-14-331.pdf
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Chemotherapy promotes astrocytic response to Aβ deposition, but not Aβ levels, in a mouse model of amyloid and APOE.

Neurobiology Of Disease
Ng, Christi Anne S CAS; Biran, Lucas P LP; Galvano, Elena E; Mandelblatt, Jeanne J; Vicini, Stefano S; Rebeck, G William GW
Publication Date: 2022-11-03

Variant appearance in text: APP: V717I
PubMed Link: 36336241
Variant Present in the following documents:
  • Main text
View BVdb publication page