Publications:

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Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease.

Frontiers In Neurology

Liang, Zhihou Z; Wu, Yan Y; Li, Chuanzhou C; Liu, Zhijun Z

Publication Date: 2023

Variant appearance in text: APP: 2061A>C; K687N

PubMed Link: 37051054

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• Main text
• fneur-14-1119326.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: K687N

PubMed Link: 36313020

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• Main text
• fnagi-14-1013295.pdf

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Decoding Conformational Imprint of Convoluted Molecular Interactions Between Prenylflavonoids and Aggregated Amyloid-Beta42 Peptide Causing Alzheimer's Disease.

Frontiers In Chemistry

Srinivasan, E E; Chandrasekhar, G G; Chandrasekar, P P; Anbarasu, K K; Vickram, A S AS; Tayubi, Iftikhar Aslam IA; Rajasekaran, R R; Karunakaran, Rohini R

Publication Date: 2021

Variant appearance in text: APP: K687N

PubMed Link: 34988060

Variant Present in the following documents:

• Main text
• fchem-09-753146.pdf

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: APP: K687N

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

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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: K687N

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: K687N

PubMed Link: 33302541

Variant Present in the following documents:

• Main text
• molecules-25-05789.pdf

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The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences

Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH

Publication Date: 2020-03-30

Variant appearance in text: APP: K687N

PubMed Link: 32235595

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• Main text
• ijms-21-02381.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: K687N

PubMed Link: 32050773

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• 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: K687N

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: K687N

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: K687N

PubMed Link: 30897251

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• Main text

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Dysregulation of Neuronal Iron Homeostasis as an Alternative Unifying Effect of Mutations Causing Familial Alzheimer's Disease.

Frontiers In Neuroscience

Lumsden, Amanda L AL; Rogers, Jack T JT; Majd, Shohreh S; Newman, Morgan M; Sutherland, Greg T GT; Verdile, Giuseppe G; Lardelli, Michael M

Publication Date: 2018

Variant appearance in text: APP: K687N

PubMed Link: 30150923

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The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia.

Aging And Disease

Xu, Yangqi Y; Liu, Xiaoli X; Shen, Junyi J; Tian, Wotu W; Fang, Rong R; Li, Binyin B; Ma, Jianfang J; Cao, Li L; Chen, Shengdi S; Li, Guanjun G; Tang, Huidong H

Publication Date: 2018-08

Variant appearance in text: APP: K687N

PubMed Link: 30090657

Variant Present in the following documents:

• Main text
• ad-9-4-696.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: K687N

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: K687N

PubMed Link: 27135718

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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: K687N

PubMed Link: 26282939

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Novel APP/Aβ mutation K16N produces highly toxic heteromeric Aβ oligomers.

Embo Molecular Medicine

Kaden, Daniela D; Harmeier, Anja A; Weise, Christoph C; Munter, Lisa M LM; Althoff, Veit V; Rost, Benjamin R BR; Hildebrand, Peter W PW; Schmitz, Dietmar D; Schaefer, Michael M; Lurz, Rudi R; Skodda, Sabine S; Yamamoto, Raina R; Arlt, Sönke S; Finckh, Ulrich U; Multhaup, Gerd G

Publication Date: 2012-07

Variant appearance in text: APP: K687N

PubMed Link: 22514144

Variant Present in the following documents:

• Main text
• emmm0004-0647-SD2.pdf
• emmm0004-0647.pdf

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