Publications:

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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: L723P

PubMed Link: 36313020

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• fnagi-14-1013295.pdf

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PepNN: a deep attention model for the identification of peptide binding sites.

Communications Biology

Abdin, Osama O; Nim, Satra S; Wen, Han H; Kim, Philip M PM

Publication Date: 2022-05-26

Variant appearance in text: APP: L723P

PubMed Link: 35618814

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• 42003_2022_3445_MOESM3_ESM.xlsx, sheet 1

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: APP: L723P

PubMed Link: 34948396

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• Main text
• ijms-22-13600.pdf

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: APP: L723P

PubMed Link: 34948396

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• ijms-22-13600.pdf

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Structural Studies Providing Insights into Production and Conformational Behavior of Amyloid-β Peptide Associated with Alzheimer's Disease Development.

Molecules (Basel, Switzerland)

Urban, Anatoly S AS; Pavlov, Konstantin V KV; Kamynina, Anna V AV; Okhrimenko, Ivan S IS; Arseniev, Alexander S AS; Bocharov, Eduard V EV

Publication Date: 2021-05-13

Variant appearance in text: APP: L723P

PubMed Link: 34068293

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• molecules-26-02897.pdf

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Molecular characterization of coat color gene in Sahiwal versus Karan Fries bovine.

Journal, Genetic Engineering & Biotechnology

Goud, Talla Sridhar TS; Upadhyay, Ramesh Chandra RC; Pichili, Vijaya Bhaskar Reddy VBR; Onteru, Suneel Kumar SK; Chadipiralla, Kiranmai K

Publication Date: 2021-01-29

Variant appearance in text: APP: L723P

PubMed Link: 33512595

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• 43141_2021_Article_117.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: L723P

PubMed Link: 33370284

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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

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PubMed Link: 33302541

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• Main text
• molecules-25-05789.pdf

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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: L723P

PubMed Link: 32325882

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• jpm-10-00026.pdf

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Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Neurobiology Of Disease

Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM

Publication Date: 2020-06

Variant appearance in text: APP: L723P

PubMed Link: 32087291

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• Main text
• nihms-1588025.pdf
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2

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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

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PubMed Link: 32050773

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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: L723P

PubMed Link: 31300647

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• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 5

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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: L723P

PubMed Link: 31011484

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• 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

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PubMed Link: 30280653

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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: L723P

PubMed Link: 29599933

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• Main text
• oncotarget-09-15132.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

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PubMed Link: 28003277

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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: L723P

PubMed Link: 27625790

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• 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

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PubMed Link: 27135718

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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: L723P

PubMed Link: 26659599

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• pone.0144692.s002.xlsx, sheet 1

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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: L723P

PubMed Link: 26282939

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Molecular mechanism of the intramembrane cleavage of the β-carboxyl terminal fragment of amyloid precursor protein by γ-secretase.

Frontiers In Physiology

Morishima-Kawashima, Maho M

Publication Date: 2014

Variant appearance in text: APP: L723P

PubMed Link: 25505888

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• Main text
• fphys-05-00463.pdf

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Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports

Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,

Publication Date: 2014-11

Variant appearance in text: APP: Leu723Pro

PubMed Link: 25217249

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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: Leu723Pro

PubMed Link: 24729694

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• Main text
• cia-9-535.pdf

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BACE1 (β-secretase) inhibitors for the treatment of Alzheimer's disease.

Chemical Society Reviews

Ghosh, Arun K AK; Osswald, Heather L HL

Publication Date: 2014-10-07

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PubMed Link: 24691405

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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: L723P

PubMed Link: 24669286

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• Main text
• OMCL2014-375968.pdf

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Characterization of intermediate steps in amyloid beta (Aβ) production under near-native conditions.

The Journal Of Biological Chemistry

Olsson, Fredrik F; Schmidt, Staffan S; Althoff, Veit V; Munter, Lisa M LM; Jin, Shaobo S; Rosqvist, Susanne S; Lendahl, Urban U; Multhaup, Gerd G; Lundkvist, Johan J

Publication Date: 2014-01-17

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PubMed Link: 24225948

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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

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PubMed Link: 22494386

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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: L723P

PubMed Link: 21785702

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• IJAD2011-929042.pdf

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Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β'-site increases Aβ generation.

Embo Molecular Medicine

Zhou, Lujia L; Brouwers, Nathalie N; Benilova, Iryna I; Vandersteen, Annelies A; Mercken, Marc M; Van Laere, Koen K; Van Damme, Philip P; Demedts, David D; Van Leuven, Fred F; Sleegers, Kristel K; Broersen, Kerensa K; Van Broeckhoven, Christine C; Vandenberghe, Rik R; De Strooper, Bart B

Publication Date: 2011-05

Variant appearance in text: APP: Leu723Pro

PubMed Link: 21500352

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• emmm0003-0291.pdf

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Genetics of Alzheimer disease.

Journal Of Geriatric Psychiatry And Neurology

Bekris, Lynn M LM; Yu, Chang-En CE; Bird, Thomas D TD; Tsuang, Debby W DW

Publication Date: 2010-12

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PubMed Link: 21045163

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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: L723P

PubMed Link: 20452985

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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: Leu723Pro

PubMed Link: 18234110

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• 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

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PubMed Link: 17659280

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Longer forms of amyloid beta protein: implications for the mechanism of intramembrane cleavage by gamma-secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Qi-Takahara, Yue Y; Morishima-Kawashima, Maho M; Tanimura, Yu Y; Dolios, Georgia G; Hirotani, Naoko N; Horikoshi, Yuko Y; Kametani, Fuyuki F; Maeda, Masahiro M; Saido, Takaomi C TC; Wang, Rong R; Ihara, Yasuo Y

Publication Date: 2005-01-12

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PubMed Link: 15647487

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