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: D678N

PubMed Link: 36313020

Variant Present in the following documents:

• Main text
• fnagi-14-1013295.pdf

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Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations.

International Journal Of Molecular Sciences

Kalampokini, Stefania S; Georgouli, Despoina D; Patrikiou, Eleni E; Provatas, Antonios A; Valotassiou, Varvara V; Georgoulias, Panagiotis P; Spanaki, Cleanthe C; Hadjigeorgiou, Georgios M GM; Xiromerisiou, Georgia G

Publication Date: 2021-11-16

Variant appearance in text: APP: D678N

PubMed Link: 34830236

Variant Present in the following documents:

• ijms-22-12355.pdf

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Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.

Current Alzheimer Research

Mao, Chenhui C; Li, Jie J; Dong, Liling L; Huang, Xinying X; Lei, Dan D; Wang, Jie J; Chu, Shanshan S; Liu, Caiyan C; Peng, Bin B; Román, Gustavo C GC; Cui, Liying L; Gao, Jing J

Publication Date: 2021

Variant appearance in text: APP: 2032G>A; Asp678Asn

PubMed Link: 34102969

Variant Present in the following documents:

• Main text
• CAR-18-265.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: D678N

PubMed Link: 33370284

Variant Present in the following documents:

• 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: D678N

PubMed Link: 33302541

Variant Present in the following documents:

• Main text
• molecules-25-05789.pdf

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Targeting isoaspartate-modified Aβ rescues behavioral deficits in transgenic mice with Alzheimer's disease-like pathology.

Alzheimer'S Research & Therapy

Gnoth, Kathrin K; Piechotta, Anke A; Kleinschmidt, Martin M; Konrath, Sandra S; Schenk, Mathias M; Taudte, Nadine N; Ramsbeck, Daniel D; Rieckmann, Vera V; Geissler, Stefanie S; Eichentopf, Rico R; Barendrecht, Susan S; Hartlage-Rübsamen, Maike M; Demuth, Hans-Ulrich HU; Roßner, Steffen S; Cynis, Holger H; Rahfeld, Jens-Ulrich JU; Schilling, Stephan S

Publication Date: 2020-11-14

Variant appearance in text: APP: D678N

PubMed Link: 33189132

Variant Present in the following documents:

• Main text

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Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile.

Scientific Reports

Lin, Yung-Shuan YS; Cheng, Chih-Ya CY; Liao, Yi-Chu YC; Hong, Chen-Jee CJ; Fuh, Jong-Ling JL

Publication Date: 2020-11-13

Variant appearance in text: APP: Asp678Asn

PubMed Link: 33188256

Variant Present in the following documents:

• Main text
• 41598_2020_Article_76794.pdf

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Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing.

Clinical Interventions In Aging

Han, Li-Hong LH; Xue, Yan-Yan YY; Zheng, Yi-Cen YC; Li, Xiao-Yan XY; Lin, Rong-Rong RR; Wu, Zhi-Ying ZY; Tao, Qing-Qing QQ

Publication Date: 2020

Variant appearance in text: APP: 2032G>A; D678N; rs63750064

PubMed Link: 33061333

Variant Present in the following documents:

• Main text
• cia-15-1831.pdf

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Progress toward Alzheimer's disease treatment: Leveraging the Achilles' heel of Aβ oligomers?

Protein Science : A Publication Of The Protein Society

Fantini, Jacques J; Chahinian, Henri H; Yahi, Nouara N

Publication Date: 2020-08

Variant appearance in text: APP: D678N

PubMed Link: 32567070

Variant Present in the following documents:

• Main text

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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: D678N

PubMed Link: 32050773

Variant Present in the following documents:

• Main text

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APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-09-25

Variant appearance in text: APP: Asp678Asn

PubMed Link: 31557888

Variant Present in the following documents:

• Main text
• ijms-20-04757.pdf

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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: D678N

PubMed Link: 31300647

Variant Present in the following documents:

• 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: D678N

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

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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: D678N

PubMed Link: 30238389

Variant Present in the following documents:

• Main text

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Implications of Metal Binding and Asparagine Deamidation for Amyloid Formation.

International Journal Of Molecular Sciences

Sadakane, Yutaka Y; Kawahara, Masahiro M

Publication Date: 2018-08-19

Variant appearance in text: APP: D678N

PubMed Link: 30126231

Variant Present in the following documents:

• ijms-19-02449.pdf

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Insights into the Molecular Mechanisms of Alzheimer's and Parkinson's Diseases with Molecular Simulations: Understanding the Roles of Artificial and Pathological Missense Mutations in Intrinsically Disordered Proteins Related to Pathology.

International Journal Of Molecular Sciences

Coskuner-Weber, Orkid O; Uversky, Vladimir N VN

Publication Date: 2018-01-24

Variant appearance in text: APP: d678n

PubMed Link: 29364151

Variant Present in the following documents:

• ijms-19-00336.pdf

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Pyroglutamate and Isoaspartate modified Amyloid-Beta in ageing and Alzheimer's disease.

Acta Neuropathologica Communications

Moro, Maria Luisa ML; Phillips, Andrew Stephen AS; Gaimster, Katie K; Paul, Christian C; Mudher, Amritpal A; Nicoll, James A R JAR; Boche, Delphine D

Publication Date: 2018-01-03

Variant appearance in text: APP: D678N

PubMed Link: 29298722

Variant Present in the following documents:

• 40478_2017_Article_505.pdf

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Identification of key regions and residues controlling Aβ folding and assembly.

Scientific Reports

Hayden, Eric Y EY; Hoi, Kimberly K KK; Lopez, Jasmine J; Inayathullah, Mohammed M; Condron, Margaret M MM; Teplow, David B DB

Publication Date: 2017-10-03

Variant appearance in text: APP: D678N

PubMed Link: 28974765

Variant Present in the following documents:

• 41598_2017_Article_10845.pdf

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Alzheimer's amyloid-β A2T variant and its N-terminal peptides inhibit amyloid-β fibrillization and rescue the induced cytotoxicity.

Plos One

Lin, Tien-Wei TW; Chang, Chi-Fon CF; Chang, Yu-Jen YJ; Liao, Yi-Hung YH; Yu, Hui-Ming HM; Chen, Yun-Ru YR

Publication Date: 2017

Variant appearance in text: APP: D678N

PubMed Link: 28362827

Variant Present in the following documents:

• pone.0174561.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: D678N

PubMed Link: 28003277

Variant Present in the following documents:

• Main text

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Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2016

Variant appearance in text: APP: Asp678Asn

PubMed Link: 27799753

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: D678N

PubMed Link: 27625790

Variant Present in the following documents:

• celldisc201626-s1.pdf

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Genes associated with Alzheimer's disease: an overview and current status.

Clinical Interventions In Aging

Giri, Mohan M; Zhang, Man M; Lü, Yang Y

Publication Date: 2016

Variant appearance in text: APP: Asp678Asn

PubMed Link: 27274215

Variant Present in the following documents:

• Main text
• cia-11-665.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: D678N

PubMed Link: 27135718

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: D678N

PubMed Link: 26659599

Variant Present in the following documents:

• 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: D678N

PubMed Link: 26282939

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: Asp678Asn

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: D678N

PubMed Link: 24669286

Variant Present in the following documents:

• Main text

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Stability of transmembrane amyloid β-peptide and membrane integrity tested by molecular modeling of site-specific Aβ42 mutations.

Plos One

Poojari, Chetan C; Strodel, Birgit B

Publication Date: 2013

Variant appearance in text: APP: D678N

PubMed Link: 24244308

Variant Present in the following documents:

• pone.0078399.pdf

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Metabolism of amyloid β peptide and pathogenesis of Alzheimer's disease.

Proceedings Of The Japan Academy. Series B, Physical And Biological Sciences

Saido, Takaomi C TC

Publication Date: 2013

Variant appearance in text: APP: D678N

PubMed Link: 23883611

Variant Present in the following documents:

• Main text
• pjab-89-321.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: D678N

PubMed Link: 22494386

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: D678N

PubMed Link: 21785702

Variant Present in the following documents:

• IJAD2011-929042.pdf

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