Publications:

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Deletion of SERF2 in mice delays embryonic development and alters amyloid deposit structure in the brain.

Life Science Alliance

Stroo, Esther E; Janssen, Leen L; Sin, Olga O; Hogewerf, Wytse W; Koster, Mirjam M; Harkema, Liesbeth L; Youssef, Sameh A SA; Beschorner, Natalie N; Wolters, Anouk Hg AH; Bakker, Bjorn B; Becker, Lore L; Garrett, Lilian L; Marschall, Susan S; Hoelter, Sabine M SM; Wurst, Wolfgang W; Fuchs, Helmut H; Gailus-Durner, Valerie V; Hrabe de Angelis, Martin M; Thathiah, Amantha A; Foijer, Floris F; van de Sluis, Bart B; van Deursen, Jan J; Jucker, Matthias M; de Bruin, Alain A; Nollen, Ellen Aa EA

Publication Date: 2023-07

Variant appearance in text: APP: E693K

PubMed Link: 37130781

Variant Present in the following documents:

• LSA-2022-01730.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: 2077G>A; Glu693Lys

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: E693K

PubMed Link: 36324401

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• 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: E693K

PubMed Link: 36313020

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• Main text
• fnagi-14-1013295.pdf

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The Clinical and Neuropathological Features of Sporadic (Late-Onset) and Genetic Forms of Alzheimer's Disease.

Journal Of Clinical Medicine

Rujeedawa, Tanzil T; Carrillo Félez, Eva E; Clare, Isabel C H ICH; Fortea, Juan J; Strydom, Andre A; Rebillat, Anne-Sophie AS; Coppus, Antonia A; Levin, Johannes J; Zaman, Shahid H SH

Publication Date: 2021-10-03

Variant appearance in text: APP: E693K

PubMed Link: 34640600

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• Main text
• jcm-10-04582.pdf

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Exogenous Aβ seeds induce Aβ depositions in the blood vessels rather than the brain parenchyma, independently of Aβ strain-specific information.

Acta Neuropathologica Communications

Hamaguchi, Tsuyoshi T; Kim, Jee Hee JH; Hasegawa, Akane A; Goto, Ritsuko R; Sakai, Kenji K; Ono, Kenjiro K; Itoh, Yoshinori Y; Yamada, Masahito M

Publication Date: 2021-09-10

Variant appearance in text: APP: E693K

PubMed Link: 34507620

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• Main text

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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: Glu693Lys

PubMed Link: 34331941

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• Main text
• main.pdf

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The Neurovascular Unit Dysfunction in Alzheimer's Disease.

International Journal Of Molecular Sciences

Soto-Rojas, Luis O LO; Pacheco-Herrero, Mar M; Martínez-Gómez, Paola A PA; Campa-Córdoba, B Berenice BB; Apátiga-Pérez, Ricardo R; Villegas-Rojas, Marcos M MM; Harrington, Charles R CR; de la Cruz, Fidel F; Garcés-Ramírez, Linda L; Luna-Muñoz, José J

Publication Date: 2021-02-18

Variant appearance in text: APP: E693K

PubMed Link: 33670754

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• Main text
• ijms-22-02022.pdf

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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: E693K

PubMed Link: 33370284

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• Main text

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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: E693K

PubMed Link: 33302541

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• Main text
• molecules-25-05789.pdf

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Late-onset vs nonmendelian early-onset Alzheimer disease: A distinction without a difference?

Neurology. Genetics

Reitz, Christiane C; Rogaeva, Ekaterina E; Beecham, Gary W GW

Publication Date: 2020-10

Variant appearance in text: APP: Glu693Lys

PubMed Link: 33225065

Variant Present in the following documents:

• Main text
• NG2020013862.pdf

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Familial Alzheimer's disease mutations at position 22 of the amyloid β-peptide sequence differentially affect synaptic loss, tau phosphorylation and neuronal cell death in an ex vivo system.

Plos One

Tackenberg, Christian C; Kulic, Luka L; Nitsch, Roger M RM

Publication Date: 2020

Variant appearance in text: APP: E693K

PubMed Link: 32966331

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• Main text
• pone.0239584.pdf

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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: E693K

PubMed Link: 32414028

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• Main text

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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: E693K

PubMed Link: 32325882

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• Main text

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Conformational Characterization of Native and L17A/F19A-Substituted Dutch-Type β-Amyloid Peptides.

International Journal Of Molecular Sciences

He, Kai-Cyuan KC; Chen, Yi-Ru YR; Liang, Chu-Ting CT; Huang, Shi-Jie SJ; Tzeng, Chung-Ying CY; Chang, Chi-Fon CF; Huang, Shing-Jong SJ; Huang, Hsien-Bin HB; Lin, Ta-Hsien TH

Publication Date: 2020-04-07

Variant appearance in text: APP: E693K

PubMed Link: 32272787

Variant Present in the following documents:

• ijms-21-02571.pdf

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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: E693K

PubMed Link: 32050773

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• Main text

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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: E693K

PubMed Link: 31847365

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• Main text
• ijms-20-06319.pdf

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Cerebral amyloid angiopathy and Alzheimer disease - one peptide, two pathways.

Nature Reviews. Neurology

Greenberg, Steven M SM; Bacskai, Brian J BJ; Hernandez-Guillamon, Mar M; Pruzin, Jeremy J; Sperling, Reisa R; van Veluw, Susanne J SJ

Publication Date: 2020-01

Variant appearance in text: APP: E693K

PubMed Link: 31827267

Variant Present in the following documents:

• Main text

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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: E693K

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

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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: E693K

PubMed Link: 30710006

Variant Present in the following documents:

• Main text

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Mutations of beta-amyloid precursor protein alter the consequence of Alzheimer's disease pathogenesis.

Neural Regeneration Research

Li, Nuo-Min NM; Liu, Ke-Fu KF; Qiu, Yun-Jie YJ; Zhang, Huan-Huan HH; Nakanishi, Hiroshi H; Qing, Hong H

Publication Date: 2019-04

Variant appearance in text: APP: E693K

PubMed Link: 30632506

Variant Present in the following documents:

• Main text

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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: Glu693Lys

PubMed Link: 30510423

Variant Present in the following documents:

• Main text
• ndt-14-3015.pdf

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Cerebrovascular disorders associated with genetic lesions.

Cellular And Molecular Life Sciences : Cmls

Karschnia, Philipp P; Nishimura, Sayoko S; Louvi, Angeliki A

Publication Date: 2019-01

Variant appearance in text: APP: E693K

PubMed Link: 30327838

Variant Present in the following documents:

• Main text

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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: E693K

PubMed Link: 30280653

Variant Present in the following documents:

• Main text

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Modeling Alzheimer's Disease by Induced Pluripotent Stem Cells Carrying APP D678H Mutation.

Molecular Neurobiology

Chang, Kuo-Hsuan KH; Lee-Chen, Guey-Jen GJ; Huang, Ching-Chang CC; Lin, Jia-Li JL; Chen, Yi-Jing YJ; Wei, Pei-Chi PC; Lo, Yen-Shi YS; Yao, Chin-Fa CF; Kuo, Ming-Wei MW; Chen, Chiung-Mei CM

Publication Date: 2019-06

Variant appearance in text: APP: E693K

PubMed Link: 30238389

Variant Present in the following documents:

• Main text

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Key Residues for the Formation of Aβ42 Amyloid Fibrils.

Acs Omega

Hsu, Frederick F; Park, Giovanna G; Guo, Zhefeng Z

Publication Date: 2018-07-31

Variant appearance in text: APP: E693K

PubMed Link: 30087945

Variant Present in the following documents:

• ao8b00887.pdf

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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: E693K

PubMed Link: 29599933

Variant Present in the following documents:

• Main text
• oncotarget-09-15132.pdf

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Translational Research in Alzheimer's and Prion Diseases.

Journal Of Alzheimer'S Disease : Jad

Di Fede, Giuseppe G; Giaccone, Giorgio G; Salmona, Mario M; Tagliavini, Fabrizio F

Publication Date: 2018

Variant appearance in text: APP: E693K

PubMed Link: 29172000

Variant Present in the following documents:

• Main text
• jad-62-jad170770.pdf

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Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms.

Frontiers In Molecular Neuroscience

Sun, Qiying Q; Xie, Nina N; Tang, Beisha B; Li, Rena R; Shen, Yong Y

Publication Date: 2017

Variant appearance in text: APP: E693K

PubMed Link: 29056900

Variant Present in the following documents:

• Main text
• fnmol-10-00319.pdf

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Clinical aspects and biomarkers of Alzheimer's disease in Down syndrome.

Free Radical Biology & Medicine

Zis, Panagiotis P; Strydom, Andre A

Publication Date: 2018-01

Variant appearance in text: APP: E693K

PubMed Link: 28870521

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• Main text

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APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Plos Medicine

Lanoiselée, Hélène-Marie HM; Nicolas, Gaël G; Wallon, David D; Rovelet-Lecrux, Anne A; Lacour, Morgane M; Rousseau, Stéphane S; Richard, Anne-Claire AC; Pasquier, Florence F; Rollin-Sillaire, Adeline A; Martinaud, Olivier O; Quillard-Muraine, Muriel M; de la Sayette, Vincent V; Boutoleau-Bretonniere, Claire C; Etcharry-Bouyx, Frédérique F; Chauviré, Valérie V; Sarazin, Marie M; le Ber, Isabelle I; Epelbaum, Stéphane S; Jonveaux, Thérèse T; Rouaud, Olivier O; Ceccaldi, Mathieu M; Félician, Olivier O; Godefroy, Olivier O; Formaglio, Maite M; Croisile, Bernard B; Auriacombe, Sophie S; Chamard, Ludivine L; Vincent, Jean-Louis JL; Sauvée, Mathilde M; Marelli-Tosi, Cecilia C; Gabelle, Audrey A; Ozsancak, Canan C; Pariente, Jérémie J; Paquet, Claire C; Hannequin, Didier D; Campion, Dominique D; ,

Publication Date: 2017-03

Variant appearance in text: APP: 2077G>A; Glu693Lys

PubMed Link: 28350801

Variant Present in the following documents:

• Main text

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The role and therapeutic targeting of α-, β- and γ-secretase in Alzheimer's disease.

Future Science Oa

MacLeod, Ruth R; Hillert, Ellin-Kristina EK; Cameron, Ryan T RT; Baillie, George S GS

Publication Date: 2015-11

Variant appearance in text: APP: E693K

PubMed Link: 28031886

Variant Present in the following documents:

• Main text

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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: E693K

PubMed Link: 28003277

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• Main text

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Publication of nuclear magnetic resonance experimental data with semantic web technology and the application thereof to biomedical research of proteins.

Journal Of Biomedical Semantics

Yokochi, Masashi M; Kobayashi, Naohiro N; Ulrich, Eldon L EL; Kinjo, Akira R AR; Iwata, Takeshi T; Ioannidis, Yannis E YE; Livny, Miron M; Markley, John L JL; Nakamura, Haruki H; Kojima, Chojiro C; Fujiwara, Toshimichi T

Publication Date: 2016-05-05

Variant appearance in text: rs63750579

PubMed Link: 27927232

Variant Present in the following documents:

• 13326_2016_57_MOESM1_ESM.pdf

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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: E693K

PubMed Link: 27625790

Variant Present in the following documents:

• celldisc201626-s1.pdf

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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: E693K

PubMed Link: 27135718

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• Main text

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Monoaminergic neuropathology in Alzheimer's disease.

Progress In Neurobiology

Šimić, Goran G; Babić Leko, Mirjana M; Wray, Selina S; Harrington, Charles R CR; Delalle, Ivana I; Jovanov-Milošević, Nataša N; Bažadona, Danira D; Buée, Luc L; de Silva, Rohan R; Di Giovanni, Giuseppe G; Wischik, Claude M CM; Hof, Patrick R PR

Publication Date: 2017-04

Variant appearance in text: APP: Glu693Lys

PubMed Link: 27084356

Variant Present in the following documents:

• Main text

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Tau Protein Hyperphosphorylation and Aggregation in Alzheimer's Disease and Other Tauopathies, and Possible Neuroprotective Strategies.

Biomolecules

Šimić, Goran G; Babić Leko, Mirjana M; Wray, Selina S; Harrington, Charles C; Delalle, Ivana I; Jovanov-Milošević, Nataša N; Bažadona, Danira D; Buée, Luc L; de Silva, Rohan R; Di Giovanni, Giuseppe G; Wischik, Claude C; Hof, Patrick R PR

Publication Date: 2016-01-06

Variant appearance in text: APP: E693K

PubMed Link: 26751493

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: AD1: E693K

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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A Tandem Oligonucleotide Approach for SNP-Selective RNA Degradation Using Modified Antisense Oligonucleotides.

Plos One

Magner, Dorota D; Biala, Ewa E; Lisowiec-Wachnicka, Jolanta J; Kierzek, Elzbieta E; Kierzek, Ryszard R

Publication Date: 2015

Variant appearance in text: rs63750579

PubMed Link: 26544037

Variant Present in the following documents:

• Main text
• pone.0142139.pdf

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Alternative salt bridge formation in Aβ-a hallmark of early-onset Alzheimer's disease?

Frontiers In Molecular Biosciences

Schledorn, Maarten M; Meier, Beat H BH; Böckmann, Anja A

Publication Date: 2015

Variant appearance in text: APP: E693K

PubMed Link: 25988181

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• fmolb-02-00014.pdf

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Altered synaptic structure in the hippocampus in a mouse model of Alzheimer's disease with soluble amyloid-β oligomers and no plaque pathology.

Molecular Neurodegeneration

Price, Katherine A KA; Varghese, Merina M; Sowa, Allison A; Yuk, Frank F; Brautigam, Hannah H; Ehrlich, Michelle E ME; Dickstein, Dara L DL

Publication Date: 2014-10-13

Variant appearance in text: APP: E693K

PubMed Link: 25312309

Variant Present in the following documents:

• Main text
• 13024_2014_Article_550.pdf

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Clinical genetics of Alzheimer's disease.

Biomed Research International

Zou, Zhangyu Z; Liu, Changyun C; Che, Chunhui C; Huang, Huapin H

Publication Date: 2014

Variant appearance in text: APP: E693K

PubMed Link: 24955352

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• Main text

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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: Glu693Lys

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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The Arctic AβPP mutation leads to Alzheimer's disease pathology with highly variable topographic deposition of differentially truncated Aβ.

Acta Neuropathologica Communications

Kalimo, Hannu H; Lalowski, Maciej M; Bogdanovic, Nenad N; Philipson, Ola O; Bird, Thomas D TD; Nochlin, David D; Schellenberg, Gerard D GD; Brundin, Rosemarie R; Olofsson, Tommie T; Soliymani, Rabah R; Baumann, Marc M; Wirths, Oliver O; Bayer, Thomas A TA; Nilsson, Lars N G LN; Basun, Hans H; Lannfelt, Lars L; Ingelsson, Martin M

Publication Date: 2013-09-10

Variant appearance in text: APP: E693K

PubMed Link: 24252272

Variant Present in the following documents:

• 2051-5960-1-60.pdf

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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: E693K

PubMed Link: 23149447

Variant Present in the following documents:

• Main text
• tp2012109a.pdf

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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: E693K

PubMed Link: 22494386

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• Main text

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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: E693K

PubMed Link: 22288400

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• Main text

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Genetic animal models of cerebral vasculopathies.

Progress In Molecular Biology And Translational Science

Lee, Jeong Hyun JH; Bacskai, Brian J BJ; Ayata, Cenk C

Publication Date: 2012

Variant appearance in text: APP: E693K

PubMed Link: 22137428

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• Main text

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Knockdown of BACE1-AS Nonprotein-Coding Transcript Modulates Beta-Amyloid-Related Hippocampal Neurogenesis.

International Journal Of Alzheimer'S Disease

Modarresi, Farzaneh F; Faghihi, Mohammad Ali MA; Patel, Nikunj S NS; Sahagan, Barbara G BG; Wahlestedt, Claes C; Lopez-Toledano, Miguel A MA

Publication Date: 2011

Variant appearance in text: APP: E693K

PubMed Link: 21785702

Variant Present in the following documents:

• IJAD2011-929042.pdf

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