PSEN1 c.856C>G ;(p.L286V)

Variant ID: 14-73664825-C-G

NM_000021.3(PSEN1):c.856C>G;(p.L286V)

This variant was identified in 487 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: PSEN1: L286V
PubMed Link: 37252274
Variant Present in the following documents:
  • Main text
  • main.pdf
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Complexity of Sex Differences and Their Impact on Alzheimer's Disease.

Biomedicines
Kadlecova, Marion M; Freude, Kristine K; Haukedal, Henriette H
Publication Date: 2023-04-24

Variant appearance in text: PSEN1: L286V
PubMed Link: 37238932
Variant Present in the following documents:
  • Main text
  • biomedicines-11-01261.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: PSEN1: L286V
PubMed Link: 37198698
Variant Present in the following documents:
  • Main text
  • 40478_2023_Article_1578.pdf
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Suspension TRAPping Filter (sTRAP) Sample Preparation for Quantitative Proteomics in the Low µg Input Range Using a Plasmid DNA Micro-Spin Column: Analysis of the Hippocampus from the 5xFAD Alzheimer's Disease Mouse Model.

Cells
Thanou, Evangelia E; Koopmans, Frank F; Pita-Illobre, Débora D; Klaassen, Remco V RV; Özer, Berna B; Charalampopoulos, Ioannis I; Smit, August B AB; Li, Ka Wan KW
Publication Date: 2023-04-25

Variant appearance in text: PSEN1: L286V
PubMed Link: 37174641
Variant Present in the following documents:
  • Main text
  • cells-12-01242.pdf
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GAP-43 closely interacts with BDNF in hippocampal neurons and is associated with Alzheimer's disease progression.

Frontiers In Molecular Neuroscience
Lee, Ye Ji YJ; Jeong, Ye Ji YJ; Kang, Eun Ji EJ; Kang, Beom Seok BS; Lee, Song Hee SH; Kim, You Jin YJ; Kang, Seong Su SS; Suh, Sang Won SW; Ahn, Eun Hee EH
Publication Date: 2023

Variant appearance in text: PSEN1: L286V
PubMed Link: 37143467
Variant Present in the following documents:
  • Main text
  • fnmol-16-1150399.pdf
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Gamma sensory entrainment for cognitive improvement in neurodegenerative diseases: opportunities and challenges ahead.

Frontiers In Integrative Neuroscience
Sahu, Prangya Parimita PP; Tseng, Philip P
Publication Date: 2023

Variant appearance in text: PSEN1: L286V
PubMed Link: 37138796
Variant Present in the following documents:
  • Main text
  • fnint-17-1146687.pdf
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What can traditional Chinese medicine do for adult neurogenesis?

Frontiers In Neuroscience
Shen, Wei W; Jiang, Ning N; Zhou, Wenxia W
Publication Date: 2023

Variant appearance in text: PSEN1: L286V
PubMed Link: 37123359
Variant Present in the following documents:
  • Main text
  • fnins-17-1158228.pdf
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Brain Region-Specific Differences in Amyloid-β Plaque Composition in 5XFAD Mice.

Life (Basel, Switzerland)
Bader, Angelika Sabine AS; Gnädig, Marius-Uwe MU; Fricke, Merle M; Büschgens, Luca L; Berger, Lena Josefine LJ; Klafki, Hans-Wolfgang HW; Meyer, Thomas T; Jahn, Olaf O; Weggen, Sascha S; Wirths, Oliver O
Publication Date: 2023-04-20

Variant appearance in text: PSEN1: L286V
PubMed Link: 37109582
Variant Present in the following documents:
  • Main text
  • life-13-01053.pdf
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Humanin and Its Pathophysiological Roles in Aging: A Systematic Review.

Biology
Coradduzza, Donatella D; Congiargiu, Antonella A; Chen, Zhichao Z; Cruciani, Sara S; Zinellu, Angelo A; Carru, Ciriaco C; Medici, Serenella S
Publication Date: 2023-04-06

Variant appearance in text: PS1: L286V
PubMed Link: 37106758
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: PSEN1: L286V
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: PSEN1: L286V
PubMed Link: 36977094
Variant Present in the following documents:
  • Main text
  • toxins-15-00203.pdf
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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: PSEN1: L286V
PubMed Link: 36936930
Variant Present in the following documents:
  • Main text
  • fimmu-14-1123149.pdf
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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: PSEN1: L286V
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: PSEN1: L286V
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: PS1: L286V
PubMed Link: 36899916
Variant Present in the following documents:
  • Main text
  • cells-12-00780.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: PSEN1: L286V
PubMed Link: 36875654
Variant Present in the following documents:
  • Main text
  • fnins-17-1104985.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: PSEN1: 856C>G; Leu286Val
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: PS1: L286V
PubMed Link: 36739453
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_29248.pdf
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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: PSEN1: L286V
PubMed Link: 36732771
Variant Present in the following documents:
  • Main text
  • 12974_2023_Article_2698.pdf
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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: PS1: L286V
PubMed Link: 36707892
Variant Present in the following documents:
  • Main text
  • 13024_2023_Article_597.pdf
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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: PSEN1: L286V
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: PS1: Leu286Val; rs63751235
PubMed Link: 36614266
Variant Present in the following documents:
  • Main text
  • ijms-24-00823.pdf
View BVdb publication page



Knee osteoarthritis accelerates amyloid beta deposition and neurodegeneration in a mouse model of Alzheimer's disease.

Molecular Brain
Gupta, Deepak Prasad DP; Lee, Young-Sun YS; Choe, Youngshik Y; Kim, Kun-Tae KT; Song, Gyun Jee GJ; Hwang, Sun-Chul SC
Publication Date: 2023-01-02

Variant appearance in text: PSEN1: L286V
PubMed Link: 36593507
Variant Present in the following documents:
  • Main text
  • 13041_2022_Article_986.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: PSEN1: L286V
PubMed Link: 36555569
Variant Present in the following documents:
  • Main text
  • ijms-23-15928.pdf
View BVdb publication page



Glial Gap Junction Pathology in the Spinal Cord of the 5xFAD Mouse Model of Early-Onset Alzheimer's Disease.

International Journal Of Molecular Sciences
Pechlivanidou, Maria M; Kousiappa, Ioanna I; Angeli, Stella S; Sargiannidou, Irene I; Koupparis, Andreas M AM; Papacostas, Savvas S SS; Kleopa, Kleopas A KA
Publication Date: 2022-12-09

Variant appearance in text: PSEN1: L286V
PubMed Link: 36555237
Variant Present in the following documents:
  • Main text
  • ijms-23-15597.pdf
View BVdb publication page



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: PS1: L286V
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: PSEN1: L286V
PubMed Link: 36443837
Variant Present in the following documents:
  • Main text
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: PSEN1: L286V
PubMed Link: 36431219
Variant Present in the following documents:
  • Main text
  • jcm-11-06742.pdf
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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: PSEN1: L286V
PubMed Link: 36404596
Variant Present in the following documents:
  • bmb-56-3-190-supple.pdf
View BVdb publication page



Protein Expression of Amino Acid Transporters Is Altered in Isolated Cerebral Microvessels of 5xFAD Mouse Model of Alzheimer's Disease.

Molecular Neurobiology
Puris, Elena E; Saveleva, Liudmila L; de Sousa Maciel, Izaque I; Kanninen, Katja M KM; Auriola, Seppo S; Fricker, Gert G
Publication Date: 2022-11-11

Variant appearance in text: PSEN1: L286V
PubMed Link: 36367657
Variant Present in the following documents:
  • Main text
  • 12035_2022_Article_3111.pdf
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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: PS1: L286V
PubMed Link: 36359817
Variant Present in the following documents:
  • Main text
  • cells-11-03421.pdf
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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: PSEN1: L286V
PubMed Link: 36359298
Variant Present in the following documents:
  • Main text
  • biomedicines-10-02778.pdf
View BVdb publication page



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: PS1: L286V
PubMed Link: 36336241
Variant Present in the following documents:
  • Main text
  • nihms-1859518.pdf
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Significance of native PLGA nanoparticles in the treatment of Alzheimer's disease pathology.

Bioactive Materials
Anand, Bibin B; Wu, Qi Q; Nakhaei-Nejad, Maryam M; Karthivashan, Govindarajan G; Dorosh, Lyudmyla L; Amidian, Sara S; Dahal, Abhishek A; Li, Xiuju X; Stepanova, Maria M; Wille, Holger H; Giuliani, Fabrizio F; Kar, Satyabrata S
Publication Date: 2022-11

Variant appearance in text: PS1: L286V
PubMed Link: 36330076
Variant Present in the following documents:
  • Main text
  • main.pdf
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White Matter Damage in Alzheimer's Disease: Contribution of Oligodendrocytes.

Current Alzheimer Research
Zhou, Jinyu J; Zhang, Peng P; Zhang, Bo B; Kong, Yuhan Y
Publication Date: 2022-10-21

Variant appearance in text: PS1: L286V
PubMed Link: 36281858
Variant Present in the following documents:
  • Main text
  • CAR-19-629.pdf
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Hypothesis review: Alzheimer's overture guidelines.

Brain Pathology (Zurich, Switzerland)
Ferrer, Isidro I
Publication Date: 2022-10-12

Variant appearance in text: PS1: L286V
PubMed Link: 36223647
Variant Present in the following documents:
  • BPA-33-e13122.pdf
View BVdb publication page