Publications:

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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: V717G

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: 2150T>G; Val717Gly

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Structural Determinant of β-Amyloid Formation: From Transmembrane Protein Dimerization to β-Amyloid Aggregates.

Biomedicines

Papadopoulos, Nicolas N; Suelves, Nuria N; Perrin, Florian F; Vadukul, Devkee M DM; Vrancx, Céline C; Constantinescu, Stefan N SN; Kienlen-Campard, Pascal P

Publication Date: 2022-10-29

Variant appearance in text: APP: V717G

PubMed Link: 36359274

Variant Present in the following documents:

• Main text
• biomedicines-10-02753.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: V717G

PubMed Link: 36313020

Variant Present in the following documents:

• Main text
• fnagi-14-1013295.pdf

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Human iPSC-Derived Neural Models for Studying Alzheimer's Disease: from Neural Stem Cells to Cerebral Organoids.

Stem Cell Reviews And Reports

Barak, Martin M; Fedorova, Veronika V; Pospisilova, Veronika V; Raska, Jan J; Vochyanova, Simona S; Sedmik, Jiri J; Hribkova, Hana H; Klimova, Hana H; Vanova, Tereza T; Bohaciakova, Dasa D

Publication Date: 2022-02

Variant appearance in text: APP: V717G

PubMed Link: 35107767

Variant Present in the following documents:

• Main text
• 12015_2021_Article_10254.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: Val717Gly

PubMed Link: 34331941

Variant Present in the following documents:

• Main text
• main.pdf

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Flavan-3-ol Microbial Metabolites Modulate Proteolysis in Neuronal Cells Reducing Amyloid-beta (1-42) Levels.

Molecular Nutrition & Food Research

Cecarini, Valentina V; Cuccioloni, Massimiliano M; Zheng, Yadong Y; Bonfili, Laura L; Gong, Chunmei C; Angeletti, Mauro M; Mena, Pedro P; Del Rio, Daniele D; Eleuteri, Anna Maria AM

Publication Date: 2021-09

Variant appearance in text: APP: V717G

PubMed Link: 34318994

Variant Present in the following documents:

• MNFR-65-2100380.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: V717G

PubMed Link: 33370284

Variant Present in the following documents:

• Main text
• pone.0237122.pdf

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Human Pluripotent Stem Cell-Derived Neural Cells as a Relevant Platform for Drug Screening in Alzheimer's Disease.

International Journal Of Molecular Sciences

Garcia-Leon, Juan Antonio JA; Caceres-Palomo, Laura L; Sanchez-Mejias, Elisabeth E; Mejias-Ortega, Marina M; Nuñez-Diaz, Cristina C; Fernandez-Valenzuela, Juan Jose JJ; Sanchez-Varo, Raquel R; Davila, Jose Carlos JC; Vitorica, Javier J; Gutierrez, Antonia A

Publication Date: 2020-09-18

Variant appearance in text: APP: V717G

PubMed Link: 32962164

Variant Present in the following documents:

• Main text
• ijms-21-06867.pdf

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Prominent amyloid plaque pathology and cerebral amyloid angiopathy in APP V717I (London) carrier - phenotypic variability in autosomal dominant Alzheimer's disease.

Acta Neuropathologica Communications

Lloyd, Grace M GM; Trejo-Lopez, Jorge A JA; Xia, Yuxing Y; McFarland, Karen N KN; Lincoln, Sarah J SJ; Ertekin-Taner, Nilüfer N; Giasson, Benoit I BI; Yachnis, Anthony T AT; Prokop, Stefan S

Publication Date: 2020-03-12

Variant appearance in text: APP: V717G

PubMed Link: 32164763

Variant Present in the following documents:

• Main text
• 40478_2020_Article_891.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: V717G

PubMed Link: 32050773

Variant Present in the following documents:

• Main text

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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: V717G

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 5

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Spreading of α-Synuclein and Tau: A Systematic Comparison of the Mechanisms Involved.

Frontiers In Molecular Neuroscience

Vasili, Eftychia E; Dominguez-Meijide, Antonio A; Outeiro, Tiago Fleming TF

Publication Date: 2019

Variant appearance in text: APP: V717G

PubMed Link: 31105524

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: V717G

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.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: V717G

PubMed Link: 30280653

Variant Present in the following documents:

• Main text

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Patterns and severity of vascular amyloid in Alzheimer's disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer's disease.

Acta Neuropathologica

Mann, David M A DMA; Davidson, Yvonne S YS; Robinson, Andrew C AC; Allen, Nancy N; Hashimoto, Tadafumi T; Richardson, Anna A; Jones, Matthew M; Snowden, Julie S JS; Pendleton, Neil N; Potier, Marie-Claude MC; Laquerrière, Annie A; Prasher, Vee V; Iwatsubo, Takeshi T; Strydom, Andre A

Publication Date: 2018-10

Variant appearance in text: APP: Val717Gly

PubMed Link: 29770843

Variant Present in the following documents:

• Main text
• 401_2018_Article_1866.pdf

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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics

Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF

Publication Date: 2017-08

Variant appearance in text: APP: 2150T>G; V717G

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.xlsx, sheet 3

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Early-Onset Alzheimer Disease.

Neurologic Clinics

Mendez, Mario F MF

Publication Date: 2017-05

Variant appearance in text: APP: V717G

PubMed Link: 28410659

Variant Present in the following documents:

• Main text

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Role of APP Interactions with Heterotrimeric G Proteins: Physiological Functions and Pathological Consequences.

Frontiers In Molecular Neuroscience

Copenhaver, Philip F PF; Kögel, Donat D

Publication Date: 2017

Variant appearance in text: APP: V717G

PubMed Link: 28197070

Variant Present in the following documents:

• fnmol-10-00003.pdf

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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: V717G

PubMed Link: 28003277

Variant Present in the following documents:

• Main text

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Network abnormalities and interneuron dysfunction in Alzheimer disease.

Nature Reviews. Neuroscience

Palop, Jorge J JJ; Mucke, Lennart L

Publication Date: 2016-12

Variant appearance in text: APP: V717G

PubMed Link: 27829687

Variant Present in the following documents:

• Main text

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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: V717G

PubMed Link: 27625790

Variant Present in the following documents:

• celldisc201626-s1.pdf

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Molecular Mechanisms in the Pathogenesis of Alzheimer's disease and Tauopathies-Prion-Like Seeded Aggregation and Phosphorylation.

Biomolecules

Hasegawa, Masato M

Publication Date: 2016-04-28

Variant appearance in text: APP: V717G

PubMed Link: 27136595

Variant Present in the following documents:

• Main text
• biomolecules-06-00024.pdf

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Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease.

Neurobiology Of Aging

Barber, Imelda S IS; García-Cárdenas, Jennyfer M JM; Sakdapanichkul, Chidchanok C; Deacon, Christopher C; Zapata Erazo, Gabriela G; Guerreiro, Rita R; Bras, Jose J; Hernandez, Dena D; Singleton, Andrew A; Guetta-Baranes, Tamar T; Braae, Anne A; Clement, Naomi N; Patel, Tulsi T; Brookes, Keeley K; Medway, Christopher C; Chappell, Sally S; Mann, David M DM; , ; Morgan, Kevin K

Publication Date: 2016-03

Variant appearance in text: APP: V717G

PubMed Link: 26803359

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: V717G

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Diffusion Kurtosis Imaging: A Possible MRI Biomarker for AD Diagnosis?

Journal Of Alzheimer'S Disease : Jad

Struyfs, Hanne H; Van Hecke, Wim W; Veraart, Jelle J; Sijbers, Jan J; Slaets, Sylvie S; De Belder, Maya M; Wuyts, Laura L; Peters, Benjamin B; Sleegers, Kristel K; Robberecht, Caroline C; Van Broeckhoven, Christine C; De Belder, Frank F; Parizel, Paul M PM; Engelborghs, Sebastiaan S

Publication Date: 2015

Variant appearance in text: APP: Val717Gly

PubMed Link: 26444762

Variant Present in the following documents:

• Main text

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Unfolded Protein Response and PERK Kinase as a New Therapeutic Target in the Pathogenesis of Alzheimer's Disease.

Current Medicinal Chemistry

Rozpedek, Wioletta W; Markiewicz, Lukasz L; Diehl, J Alan JA; Pytel, Dariusz D; Majsterek, Ireneusz I

Publication Date: 2015

Variant appearance in text: APP: V717G

PubMed Link: 26282939

Variant Present in the following documents:

• Main text

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Extracellular association of APP and tau fibrils induces intracellular aggregate formation of tau.

Acta Neuropathologica

Takahashi, Muneaki M; Miyata, Haruka H; Kametani, Fuyuki F; Nonaka, Takashi T; Akiyama, Haruhiko H; Hisanaga, Shin-ichi S; Hasegawa, Masato M

Publication Date: 2015-06

Variant appearance in text: APP: V717G

PubMed Link: 25869641

Variant Present in the following documents:

• Main text
• 401_2015_Article_1415.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: V717G

PubMed Link: 24955352

Variant Present in the following documents:

• 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: Val717Gly

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Early onset Alzheimer's disease and oxidative stress.

Oxidative Medicine And Cellular Longevity

Meraz-Ríos, Marco Antonio MA; Franco-Bocanegra, Diana D; Toral Rios, Danira D; Campos-Peña, Victoria V

Publication Date: 2014

Variant appearance in text: APP: V717G

PubMed Link: 24669286

Variant Present in the following documents:

• Main text

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The genetics of Alzheimer's disease.

Scientifica

Barber, Robert C RC

Publication Date: 2012

Variant appearance in text: APP: V717G

PubMed Link: 24278680

Variant Present in the following documents:

• Main text
• SCIENTIFICA2012-246210.pdf

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Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations.

Journal Of Alzheimer'S Disease : Jad

Scahill, Rachael I RI; Ridgway, Gerard R GR; Bartlett, Jonathan W JW; Barnes, Josephine J; Ryan, Natalie S NS; Mead, Simon S; Beck, Jonathan J; Clarkson, Matthew J MJ; Crutch, Sebastian J SJ; Schott, Jonathan M JM; Ourselin, Sebastien S; Warren, Jason D JD; Hardy, John J; Rossor, Martin N MN; Fox, Nick C NC

Publication Date: 2013

Variant appearance in text: APP: V717G

PubMed Link: 23380992

Variant Present in the following documents:

• Main text

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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: V717G

PubMed Link: 22494386

Variant Present in the following documents:

• Main text

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Genetic studies in Alzheimer's disease.

Dialogues In Clinical Neuroscience

Tang, Ya-Ping YP; Gershon, Elliot S ES

Publication Date: 2003-03

Variant appearance in text: APP: Val717Gly

PubMed Link: 22033785

Variant Present in the following documents:

• 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: V717G

PubMed Link: 21785702

Variant Present in the following documents:

• IJAD2011-929042.pdf

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Structural imaging in early pre-states of dementia.

Biochimica Et Biophysica Acta

Smith, Charles D CD

Publication Date: 2012-03

Variant appearance in text: APP: V717G

PubMed Link: 21777674

Variant Present in the following documents:

• Main text

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Cerebral amyloid angiopathy: a systematic review.

Journal Of Clinical Neurology (Seoul, Korea)

Biffi, Alessandro A; Greenberg, Steven M SM

Publication Date: 2011-03

Variant appearance in text: APP: V717G

PubMed Link: 21519520

Variant Present in the following documents:

• jcn-7-1.pdf

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Molecular determinants and thermodynamics of the amyloid precursor protein transmembrane domain implicated in Alzheimer's disease.

Journal Of Molecular Biology

Wang, Hao H; Barreyro, Laura L; Provasi, Davide D; Djemil, Imane I; Torres-Arancivia, Celia C; Filizola, Marta M; Ubarretxena-Belandia, Iban I

Publication Date: 2011-05-20

Variant appearance in text: APP: V717G

PubMed Link: 21440556

Variant Present in the following documents:

• Main text

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Aberrant amyloid precursor protein (APP) processing in hereditary forms of Alzheimer disease caused by APP familial Alzheimer disease mutations can be rescued by mutations in the APP GxxxG motif.

The Journal Of Biological Chemistry

Munter, Lisa-Marie LM; Botev, Anne A; Richter, Luise L; Hildebrand, Peter W PW; Althoff, Veit V; Weise, Christoph C; Kaden, Daniela D; Multhaup, Gerd G

Publication Date: 2010-07-09

Variant appearance in text: APP: V717G

PubMed Link: 20452985

Variant Present in the following documents:

• Main text

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Assessment of allele-specific gene silencing by RNA interference with mutant and wild-type reporter alleles.

Journal Of Rnai And Gene Silencing : An International Journal Of Rna And Gene Targeting Research

Ohnishi, Yusuke Y; Tokunaga, Katsushi K; Kaneko, Kiyotoshi K; Hohjoh, Hirohiko H

Publication Date: 2006-02-28

Variant appearance in text: APP: V717G

PubMed Link: 19771217

Variant Present in the following documents:

• Main text

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RNA interference technologies and therapeutics: from basic research to products.

Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals And Gene Therapy

López-Fraga, Marta M; Martínez, Tamara T; Jiménez, Ana A

Publication Date: 2009

Variant appearance in text: APP: V717G

PubMed Link: 19754220

Variant Present in the following documents:

• Main text

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Enhancement of allele discrimination by introduction of nucleotide mismatches into siRNA in allele-specific gene silencing by RNAi.

Plos One

Ohnishi, Yusuke Y; Tamura, Yoshiko Y; Yoshida, Mariko M; Tokunaga, Katsushi K; Hohjoh, Hirohiko H

Publication Date: 2008-05-21

Variant appearance in text: APP: V717G

PubMed Link: 18493311

Variant Present in the following documents:

• Main text

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Dimerization of the transmembrane domain of amyloid precursor proteins and familial Alzheimer's disease mutants.

Bmc Neuroscience

Gorman, Paul M PM; Kim, Sanguk S; Guo, Meng M; Melnyk, Roman A RA; McLaurin, Joanne J; Fraser, Paul E PE; Bowie, James U JU; Chakrabartty, Avijit A

Publication Date: 2008-01-30

Variant appearance in text: APP: V717G

PubMed Link: 18234110

Variant Present in the following documents:

• Main text
• 1471-2202-9-17.pdf

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Stable insertion of Alzheimer Abeta peptide into the ER membrane strongly correlates with its length.

Febs Letters

Lundin, Carolina C; Johansson, Sofia S; Johnson, Arthur E AE; Näslund, Jan J; von Heijne, Gunnar G; Nilsson, IngMarie I

Publication Date: 2007-08-07

Variant appearance in text: APP: Val717Gly

PubMed Link: 17659280

Variant Present in the following documents:

• Main text

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An update on the amyloid hypothesis.

Neurologic Clinics

Eckman, Christopher B CB; Eckman, Elizabeth A EA

Publication Date: 2007-08

Variant appearance in text: APP: V717G

PubMed Link: 17659184

Variant Present in the following documents:

• Main text

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Selective cytotoxicity of intracellular amyloid beta peptide1-42 through p53 and Bax in cultured primary human neurons.

The Journal Of Cell Biology

Zhang, Yan Y; McLaughlin, Richard R; Goodyer, Cynthia C; LeBlanc, Andréa A

Publication Date: 2002-02-04

Variant appearance in text: APP: V717G

PubMed Link: 11815632

Variant Present in the following documents:

• Main text

View BVdb publication page

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