APP c.2080G>A ;(p.D694N)

Variant ID: 21-27264165-C-T

NM_000484.3(APP):c.2080G>A;(p.D694N)

This variant was identified in 120 publications

View GRCh38 version.




Publications:


Differential effects of familial Alzheimer's disease-causing mutations on amyloid precursor protein (APP) trafficking, proteolytic conversion, and synaptogenic activity.

Acta Neuropathologica Communications
Schilling, Sandra S; Pradhan, Ajay A; Heesch, Amelie A; Helbig, Andrea A; Blennow, Kaj K; Koch, Christian C; Bertgen, Lea L; Koo, Edward H EH; Brinkmalm, Gunnar G; Zetterberg, Henrik H; Kins, Stefan S; Eggert, Simone S
Publication Date: 2023-06-01

Variant appearance in text: APP: D694N
PubMed Link: 37259128
Variant Present in the following documents:
  • Main text
  • 40478_2023_Article_1577.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: 2080G>A; Asp694Asn
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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rTg-D: A novel transgenic rat model of cerebral amyloid angiopathy Type-2.

Cerebral Circulation - Cognition And Behavior
Davis, Judianne J; Xu, Feng F; Zhu, Xiaoyue X; Van Nostrand, William E WE
Publication Date: 2022

Variant appearance in text: APP: D694N
PubMed Link: 36324401
Variant Present in the following documents:
  • Main text
  • main.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: D694N
PubMed Link: 36313020
Variant Present in the following documents:
  • Main text
  • fnagi-14-1013295.pdf
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Transcriptomic Profile of Blood-Brain Barrier Remodeling in Cerebral Amyloid Angiopathy.

Frontiers In Cellular Neuroscience
Situ, Muyu M; Citalan-Madrid, Ali Francisco AF; Stamatovic, Svetlana M SM; Keep, Richard F RF; Andjelkovic, Anuska V AV
Publication Date: 2022

Variant appearance in text: APP: D694N
PubMed Link: 35813502
Variant Present in the following documents:
  • Main text
  • fncel-16-931247.pdf
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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: APP: 2080G>A
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



Aβ oligomer concentration in mouse and human brain and its drug-induced reduction ex vivo.

Cell Reports. Medicine
Kass, Bettina B; Schemmert, Sarah S; Zafiu, Christian C; Pils, Marlene M; Bannach, Oliver O; Kutzsche, Janine J; Bujnicki, Tuyen T; Willbold, Dieter D
Publication Date: 2022-05-17

Variant appearance in text: APP: D694N
PubMed Link: 35584626
Variant Present in the following documents:
  • Main text
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: APP: 2080G>A; Asp694Asn
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
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MDGA1 negatively regulates amyloid precursor protein-mediated synapse inhibition in the hippocampus.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kim, Jinhu J; Kim, Seungjoon S; Kim, Hyeonho H; Hwang, In-Wook IW; Bae, Sungwon S; Karki, Sudeep S; Kim, Dongwook D; Ogelman, Roberto R; Bang, Geul G; Kim, Jin Young JY; Kajander, Tommi T; Um, Ji Won JW; Oh, Won Chan WC; Ko, Jaewon J
Publication Date: 2022-01-25

Variant appearance in text: APP: D694N
PubMed Link: 35074912
Variant Present in the following documents:
  • Main text
  • pnas.2115326119.sd01.xlsx, sheet 7
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MDGA1 negatively regulates amyloid precursor protein-mediated synapse inhibition in the hippocampus.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kim, Jinhu J; Kim, Seungjoon S; Kim, Hyeonho H; Hwang, In-Wook IW; Bae, Sungwon S; Karki, Sudeep S; Kim, Dongwook D; Ogelman, Roberto R; Bang, Geul G; Kim, Jin Young JY; Kajander, Tommi T; Um, Ji Won JW; Oh, Won Chan WC; Ko, Jaewon J
Publication Date: 2022-01-25

Variant appearance in text: APP: D694N
PubMed Link: 35074912
Variant Present in the following documents:
  • Main text
  • pnas.2115326119.sd01.xlsx, sheet 7
View BVdb publication page



Sex differences in a murine model of Cerebral Amyloid Angiopathy.

Brain, Behavior, & Immunity - Health
Maniskas, Michael E ME; Mack, Alexis F AF; Morales-Scheihing, Diego D; Finger, Carson C; Zhu, Liang L; Paulter, Robia R; Urayama, Akihiko A; McCullough, Louise D LD; Manwani, Bharti B
Publication Date: 2021-07

Variant appearance in text: APP: D694N
PubMed Link: 34589766
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Dysregulated clock gene expression and abnormal diurnal regulation of hippocampal inhibitory transmission and spatial memory in amyloid precursor protein transgenic mice.

Neurobiology Of Disease
Fusilier, Allison R AR; Davis, Jennifer A JA; Paul, Jodi R JR; Yates, Stefani D SD; McMeekin, Laura J LJ; Goode, Lacy K LK; Mokashi, Mugdha V MV; Remiszewski, Natalie N; van Groen, Thomas T; Cowell, Rita M RM; McMahon, Lori L LL; Roberson, Erik D ED; Gamble, Karen L KL
Publication Date: 2021-10

Variant appearance in text: APP: D694N
PubMed Link: 34333153
Variant Present in the following documents:
  • Main text
  • nihms-1740145.pdf
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Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

The American Journal Of Pathology
Kalaria, Rajesh N RN; Sepulveda-Falla, Diego D
Publication Date: 2021-11

Variant appearance in text: APP: Asp694Asn
PubMed Link: 34331941
Variant Present in the following documents:
  • Main text
  • main.pdf
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In Vitro and In Vivo Efficacies of the Linear and the Cyclic Version of an All-d-Enantiomeric Peptide Developed for the Treatment of Alzheimer's Disease.

International Journal Of Molecular Sciences
Schemmert, Sarah S; Camargo, Luana Cristina LC; Honold, Dominik D; Gering, Ian I; Kutzsche, Janine J; Willuweit, Antje A; Willbold, Dieter D
Publication Date: 2021-06-18

Variant appearance in text: APP: D694N
PubMed Link: 34207233
Variant Present in the following documents:
  • Main text
  • ijms-22-06553.pdf
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Intranasal Delivery of Collagen-Loaded Neprilysin Clears Beta-Amyloid Plaques in a Transgenic Alzheimer Mouse Model.

Frontiers In Aging Neuroscience
Humpel, Christian C
Publication Date: 2021

Variant appearance in text: APP: D694N
PubMed Link: 33967739
Variant Present in the following documents:
  • Main text
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Spreading of Beta-Amyloid in Organotypic Mouse Brain Slices and Microglial Elimination and Effects on Cholinergic Neurons.

Biomolecules
Moelgg, Kurt K; Jummun, Faryal F; Humpel, Christian C
Publication Date: 2021-03-15

Variant appearance in text: APP: D694N
PubMed Link: 33804246
Variant Present in the following documents:
  • Main text
  • biomolecules-11-00434.pdf
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Cerebrovascular phenotypes in mouse models of Alzheimer's disease.

Journal Of Cerebral Blood Flow And Metabolism : Official Journal Of The International Society Of Cerebral Blood Flow And Metabolism
Szu, Jenny I JI; Obenaus, André A
Publication Date: 2021-08

Variant appearance in text: APP: D694N
PubMed Link: 33557692
Variant Present in the following documents:
  • Main text
View BVdb publication page



Blood-Brain Barrier Disruption Increases Amyloid-Related Pathology in TgSwDI Mice.

International Journal Of Molecular Sciences
Abdallah, Ihab M IM; Al-Shami, Kamal M KM; Yang, Euitaek E; Kaddoumi, Amal A
Publication Date: 2021-01-27

Variant appearance in text: APP: D694N
PubMed Link: 33513818
Variant Present in the following documents:
  • Main text
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: D694N
PubMed Link: 33370284
Variant Present in the following documents:
  • Main text
View BVdb publication page



APOE and Alzheimer's disease: advances in genetics, pathophysiology, and therapeutic approaches.

The Lancet. Neurology
Serrano-Pozo, Alberto A; Das, Sudeshna S; Hyman, Bradley T BT
Publication Date: 2021-01

Variant appearance in text: APP: D694N
PubMed Link: 33340485
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: D694N
PubMed Link: 33302541
Variant Present in the following documents:
  • Main text
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Potential caveats of putative microglia-specific markers for assessment of age-related cerebrovascular neuroinflammation.

Journal Of Neuroinflammation
Honarpisheh, Pedram P; Lee, Juneyoung J; Banerjee, Anik A; Blasco-Conesa, Maria P MP; Honarpisheh, Parisa P; d'Aigle, John J; Mamun, Abdullah A AA; Ritzel, Rodney M RM; Chauhan, Anjali A; Ganesh, Bhanu P BP; McCullough, Louise D LD
Publication Date: 2020-12-01

Variant appearance in text: APP: D694N
PubMed Link: 33261619
Variant Present in the following documents:
  • Main text
  • 12974_2020_Article_2019.pdf
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An Overview of Astrocyte Responses in Genetically Induced Alzheimer's Disease Mouse Models.

Cells
Spanos, Fokion F; Liddelow, Shane A SA
Publication Date: 2020-11-04

Variant appearance in text: APP: D694N
PubMed Link: 33158189
Variant Present in the following documents:
  • Main text
  • cells-09-02415.pdf
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Systems-based proteomics to resolve the biology of Alzheimer's disease beyond amyloid and tau.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Rayaprolu, Sruti S; Higginbotham, Lenora L; Bagchi, Pritha P; Watson, Caroline M CM; Zhang, Tian T; Levey, Allan I AI; Rangaraju, Srikant S; Seyfried, Nicholas T NT
Publication Date: 2021-01

Variant appearance in text: APP: D694N
PubMed Link: 32898852
Variant Present in the following documents:
  • Main text
  • 41386_2020_Article_840.pdf
View BVdb publication page



Discoidin Domain Receptor 1 is a therapeutic target for neurodegenerative diseases.

Human Molecular Genetics
Fowler, Alan J AJ; Hebron, Michaeline M; Balaraman, Kaluvu K; Shi, Wangke W; Missner, Alexander A AA; Greenzaid, Jonathan D JD; Chiu, Timothy L TL; Ullman, Clementina C; Weatherdon, Ethan E; Duka, Val V; Torres-Yaghi, Yasar Y; Pagan, Fernando L FL; Liu, Xiaoguang X; Ressom, Habtom H; Ahn, Jaeil J; Wolf, Christian C; Moussa, Charbel C
Publication Date: 2020-10-10

Variant appearance in text: APP: D694N
PubMed Link: 32776088
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phosphorylated Aβ peptides in human Down syndrome brain and different Alzheimer's-like mouse models.

Acta Neuropathologica Communications
Kumar, Sathish S; Lemere, Cynthia A CA; Walter, Jochen J
Publication Date: 2020-07-29

Variant appearance in text: APP: D694N
PubMed Link: 32727580
Variant Present in the following documents:
  • Main text
View BVdb publication page



Understanding the Pathophysiology of Cerebral Amyloid Angiopathy.

International Journal Of Molecular Sciences
Gatti, Laura L; Tinelli, Francesca F; Scelzo, Emma E; Arioli, Francesco F; Di Fede, Giuseppe G; Obici, Laura L; Pantoni, Leonardo L; Giaccone, Giorgio G; Caroppo, Paola P; Parati, Eugenio Agostino EA; Bersano, Anna A
Publication Date: 2020-05-13

Variant appearance in text: APP: D694N
PubMed Link: 32414028
Variant Present in the following documents:
  • Main text
View BVdb publication page



Copper stabilizes antiparallel β-sheet fibrils of the amyloid β40 (Aβ40)-Iowa variant.

The Journal Of Biological Chemistry
Crooks, Elliot J EJ; Irizarry, Brandon A BA; Ziliox, Martine M; Kawakami, Toru T; Victor, Tiffany T; Xu, Feng F; Hojo, Hironobu H; Chiu, Kelley K; Simmerling, Carlos C; Van Nostrand, William E WE; Smith, Steven O SO; Miller, Lisa M LM
Publication Date: 2020-07-03

Variant appearance in text: APP: D694N
PubMed Link: 32376688
Variant Present in the following documents:
  • Main text
View BVdb publication page



New Insights into the Molecular Bases of Familial Alzheimer's Disease.

Journal Of Personalized Medicine
D'Argenio, Valeria V; Sarnataro, Daniela D
Publication Date: 2020-04-19

Variant appearance in text: APP: D694N
PubMed Link: 32325882
Variant Present in the following documents:
  • Main text
View BVdb publication page



Longitudinal Cognitive Decline in a Novel Rodent Model of Cerebral Amyloid Angiopathy Type-1.

International Journal Of Molecular Sciences
Popescu, Dominique L DL; Van Nostrand, William E WE; Robinson, John K JK
Publication Date: 2020-03-28

Variant appearance in text: APP: D694N
PubMed Link: 32231123
Variant Present in the following documents:
  • Main text
  • ijms-21-02348.pdf
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Potential Role of Venular Amyloid in Alzheimer's Disease Pathogenesis.

International Journal Of Molecular Sciences
Morrone, Christopher D CD; Bishay, Jossana J; McLaurin, JoAnne J
Publication Date: 2020-03-14

Variant appearance in text: APP: D694N
PubMed Link: 32183293
Variant Present in the following documents:
  • Main text
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: D694N
PubMed Link: 32050773
Variant Present in the following documents:
  • Main text
View BVdb publication page



Environmental Enrichment: Disentangling the Influence of Novelty, Social, and Physical Activity on Cerebral Amyloid Angiopathy in a Transgenic Mouse Model.

International Journal Of Molecular Sciences
Robison, Lisa S LS; Francis, Nikita N; Popescu, Dominique L DL; Anderson, Maria E ME; Hatfield, Joshua J; Xu, Feng F; Anderson, Brenda J BJ; Van Nostrand, William E WE; Robinson, John K JK
Publication Date: 2020-01-28

Variant appearance in text: APP: D694N
PubMed Link: 32012921
Variant Present in the following documents:
  • Main text
  • ijms-21-00843.pdf
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The Amyloid-Tau-Neuroinflammation Axis in the Context of Cerebral Amyloid Angiopathy.

International Journal Of Molecular Sciences
Cisternas, Pablo P; Taylor, Xavier X; Lasagna-Reeves, Cristian A CA
Publication Date: 2019-12-14

Variant appearance in text: APP: D694N
PubMed Link: 31847365
Variant Present in the following documents:
  • Main text
  • ijms-20-06319.pdf
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Estimating dispensable content in the human interactome.

Nature Communications
Ghadie, Mohamed M; Xia, Yu Y
Publication Date: 2019-07-19

Variant appearance in text: APP: 2080G>A; Asp694Asn
PubMed Link: 31324802
Variant Present in the following documents:
  • 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
  • 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
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: D694N
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 5
View BVdb publication page



Long-term voluntary wheel running does not alter vascular amyloid burden but reduces neuroinflammation in the Tg-SwDI mouse model of cerebral amyloid angiopathy.

Journal Of Neuroinflammation
Robison, Lisa S LS; Popescu, Dominique L DL; Anderson, Maria E ME; Francis, Nikita N; Hatfield, Joshua J; Sullivan, Joseph K JK; Beigelman, Steven I SI; Xu, Feng F; Anderson, Brenda J BJ; Van Nostrand, William E WE; Robinson, John K JK
Publication Date: 2019-07-11

Variant appearance in text: APP: D694N
PubMed Link: 31296239
Variant Present in the following documents:
  • Main text
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: D694N
PubMed Link: 31011484
Variant Present in the following documents:
  • Main text
  • ad-10-2-383.pdf
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The vexing complexity of the amyloidogenic pathway.

Protein Science : A Publication Of The Protein Society
Castro, Manuel A MA; Hadziselimovic, Arina A; Sanders, Charles R CR
Publication Date: 2019-07

Variant appearance in text: APP: D694N
PubMed Link: 30897251
Variant Present in the following documents:
  • Main text
View BVdb publication page



Capturing Aβ42 aggregation in the cell.

The Journal Of Biological Chemistry
Bemporad, Francesco F; Cecchi, Cristina C; Chiti, Fabrizio F
Publication Date: 2019-02-01

Variant appearance in text: APP: D694N
PubMed Link: 30710006
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.

Neuropsychiatric Disease And Treatment
Van Giau, Vo V; Senanarong, Vorapun V; Bagyinszky, Eva E; Limwongse, Chanin C; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2018

Variant appearance in text: APP: Asp694Asn
PubMed Link: 30510423
Variant Present in the following documents:
  • Main text
  • ndt-14-3015.pdf
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A Novel Transgenic Rat Model of Robust Cerebral Microvascular Amyloid with Prominent Vasculopathy.

The American Journal Of Pathology
Davis, Judianne J; Xu, Feng F; Hatfield, Joshua J; Lee, Hedok H; Hoos, Michael D MD; Popescu, Dominique D; Crooks, Elliot E; Kim, Regina R; Smith, Steven O SO; Robinson, John K JK; Benveniste, Helene H; Van Nostrand, William E WE
Publication Date: 2018-12

Variant appearance in text: APP: D694N
PubMed Link: 30446159
Variant Present in the following documents:
  • Main text
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Platelets isolated from an Alzheimer mouse damage healthy cortical vessels and cause inflammation in an organotypic ex vivo brain slice model.

Scientific Reports
Kniewallner, Kathrin M KM; Foidl, Bettina M BM; Humpel, Christian C
Publication Date: 2018-10-19

Variant appearance in text: APP: D694N
PubMed Link: 30341392
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_33768.pdf
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Blood-Brain Barrier: From Physiology to Disease and Back.

Physiological Reviews
Sweeney, Melanie D MD; Zhao, Zhen Z; Montagne, Axel A; Nelson, Amy R AR; Zlokovic, Berislav V BV
Publication Date: 2019-01-01

Variant appearance in text: APP: D694N
PubMed Link: 30280653
Variant Present in the following documents:
  • Main text
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Preparation of organotypic brain slice cultures for the study of Alzheimer's disease.

F1000Research
Croft, Cara L CL; Noble, Wendy W
Publication Date: 2018

Variant appearance in text: APP: D694N
PubMed Link: 29904599
Variant Present in the following documents:
  • Main text
  • f1000research-7-16770.pdf
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Differential Hyperphosphorylation of Tau-S199, -T231 and -S396 in Organotypic Brain Slices of Alzheimer Mice. A Model to Study Early Tau Hyperphosphorylation Using Okadaic Acid.

Frontiers In Aging Neuroscience
Foidl, Bettina M BM; Humpel, Christian C
Publication Date: 2018

Variant appearance in text: APP: D694N
PubMed Link: 29725295
Variant Present in the following documents:
  • Main text
  • fnagi-10-00113.pdf
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