APP c.2032G>C ;(p.D678H)

Variant ID: 21-27269917-C-G

NM_000484.3(APP):c.2032G>C;(p.D678H)

This variant was identified in 39 publications

View GRCh38 version.




Publications:


The proteasome: A key modulator of nervous system function, brain aging, and neurodegenerative disease.

Frontiers In Cell And Developmental Biology
Davidson, Kanisa K; Pickering, Andrew M AM
Publication Date: 2023

Variant appearance in text: APP: D678H
PubMed Link: 37123415
Variant Present in the following documents:
  • fcell-11-1124907.pdf
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Stem Cell Therapy for Alzheimer's Disease: A Scoping Review for 2017-2022.

Biomedicines
Duan, Yunxiao Y; Lyu, Linshuoshuo L; Zhan, Siyan S
Publication Date: 2023-01-03

Variant appearance in text: APP: D678H
PubMed Link: 36672626
Variant Present in the following documents:
  • biomedicines-11-00120.pdf
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Integration of network pharmacology and molecular docking to explore the molecular mechanism of Cordycepin in the treatment of Alzheimer's disease.

Frontiers In Aging Neuroscience
Ma, Xiaoying X; Zhao, Ying Y; Yang, Tao T; Gong, Na N; Chen, Xun X; Liu, Guoli G; Xiao, Jun J
Publication Date: 2022

Variant appearance in text: APP: D678H
PubMed Link: 36620771
Variant Present in the following documents:
  • fnagi-14-1058780.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: D678H
PubMed Link: 36313020
Variant Present in the following documents:
  • Main text
  • fnagi-14-1013295.pdf
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iPSCs in Neurodegenerative Disorders: A Unique Platform for Clinical Research and Personalized Medicine.

Journal Of Personalized Medicine
Pandey, Shashank S; Jirásko, Michal M; Lochman, Jan J; Chvátal, Alexandr A; Chottova Dvorakova, Magdalena M; Kučera, Radek R
Publication Date: 2022-09-10

Variant appearance in text: APP: D678H
PubMed Link: 36143270
Variant Present in the following documents:
  • Main text
  • jpm-12-01485.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: D678H
PubMed Link: 35107767
Variant Present in the following documents:
  • 12015_2021_Article_10254.pdf
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Neurodegeneration and Vascular Burden on Cognition After Midlife: A Plasma and Neuroimaging Biomarker Study.

Frontiers In Human Neuroscience
Huang, Kuo-Lun KL; Hsiao, Ing-Tsung IT; Chang, Ting-Yu TY; Yang, Shieh-Yueh SY; Chang, Yeu-Jhy YJ; Wu, Hsiu-Chuan HC; Liu, Chi-Hung CH; Wu, Yi-Ming YM; Lin, Kun-Ju KJ; Ho, Meng-Yang MY; Lee, Tsong-Hai TH
Publication Date: 2021

Variant appearance in text: APP: D678H
PubMed Link: 34970128
Variant Present in the following documents:
  • fnhum-15-735063.pdf
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Human iPSC-Derived Neurons as A Platform for Deciphering the Mechanisms behind Brain Aging.

Biomedicines
Chao, Chuan-Chuan CC; Shen, Po-Wen PW; Tzeng, Tsai-Yu TY; Kung, Hsing-Jien HJ; Tsai, Ting-Fen TF; Wong, Yu-Hui YH
Publication Date: 2021-11-07

Variant appearance in text: APP: D678H
PubMed Link: 34829864
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01635.pdf
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Modeling congenital cataract in vitro using patient-specific induced pluripotent stem cells.

Npj Regenerative Medicine
Lyu, Danni D; Zhang, Lifang L; Qin, Zhenwei Z; Ni, Shuang S; Li, Jiayong J; Lu, Bing B; Hao, Shengjie S; Tang, Qiaomei Q; Yin, Houfa H; Chen, Zhijian Z; Yan, Yong-Bin YB; Ji, Junfeng J; He, Jiliang J; Nagy, Andras A; Fu, Qiuli Q; Yao, Ke K
Publication Date: 2021-10-01

Variant appearance in text: APP: D678H
PubMed Link: 34599192
Variant Present in the following documents:
  • Main text
  • 41536_2021_Article_171.pdf
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Cerebral Organoids-Challenges to Establish a Brain Prototype.

Cells
Eremeev, Artem V AV; Lebedeva, Olga S OS; Bogomiakova, Margarita E ME; Lagarkova, Maria A MA; Bogomazova, Alexandra N AN
Publication Date: 2021-07-15

Variant appearance in text: APP: D678H
PubMed Link: 34359959
Variant Present in the following documents:
  • cells-10-01790.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: D678H
PubMed Link: 34331941
Variant Present in the following documents:
  • Main text
  • main.pdf
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iPSCs: A Preclinical Drug Research Tool for Neurological Disorders.

International Journal Of Molecular Sciences
Bonaventura, Gabriele G; Iemmolo, Rosario R; Attaguile, Giuseppe Antonino GA; La Cognata, Valentina V; Pistone, Brigida Sabrina BS; Raudino, Giuseppe G; D'Agata, Velia V; Cantarella, Giuseppina G; Barcellona, Maria Luisa ML; Cavallaro, Sebastiano S
Publication Date: 2021-04-27

Variant appearance in text: APP: D678H
PubMed Link: 33925625
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Heterogeneous Subtypes of Mild Cognitive Impairment Using Cluster Analyses Based on PET Imaging of Tau and Astrogliosis.

Frontiers In Aging Neuroscience
Lee, Hyun Jeong HJ; Lee, Eun-Chong EC; Seo, Seongho S; Ko, Kwang-Pil KP; Kang, Jae Myeong JM; Kim, Woo-Ram WR; Seo, Ha-Eun HE; Lee, Sang-Yoon SY; Lee, Yeong-Bae YB; Park, Kee Hyung KH; Yeon, Byeong Kil BK; Okamura, Nobuyuki N; Na, Duk L DL; Seong, Joon-Kyung JK; Noh, Young Y
Publication Date: 2020

Variant appearance in text: APP: D678H
PubMed Link: 33584247
Variant Present in the following documents:
  • fnagi-12-615467.pdf
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Human iPSC-Based Modeling of Central Nerve System Disorders for Drug Discovery.

International Journal Of Molecular Sciences
Qian, Lu L; Tcw, Julia J
Publication Date: 2021-01-26

Variant appearance in text: APP: D678H
PubMed Link: 33530458
Variant Present in the following documents:
  • ijms-22-01203.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: D678H
PubMed Link: 33370284
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: D678H
PubMed Link: 33302541
Variant Present in the following documents:
  • Main text
  • molecules-25-05789.pdf
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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: Asp678His
PubMed Link: 33188256
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neuroprotective Effects of OMO within the Hippocampus and Cortex in a D-Galactose and Aβ 25-35-Induced Rat Model of Alzheimer's Disease.

Evidence-Based Complementary And Alternative Medicine : Ecam
Deng, Shaodong S; Lu, Hongmei H; Chi, Honggang H; Wang, Ying Y; Li, Xiao X; Ye, Haiyi H
Publication Date: 2020

Variant appearance in text: APP: D678H
PubMed Link: 33101436
Variant Present in the following documents:
  • ECAM2020-1067541.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: D678H
PubMed Link: 32962164
Variant Present in the following documents:
  • Main text
View BVdb publication page



Innovative Therapies and Nanomedicine Applications for the Treatment of Alzheimer's Disease: A State-of-the-Art (2017-2020).

International Journal Of Nanomedicine
Binda, Anna A; Murano, Carmen C; Rivolta, Ilaria I
Publication Date: 2020

Variant appearance in text: APP: D678H
PubMed Link: 32884267
Variant Present in the following documents:
  • ijn-15-6113.pdf
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Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine
Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J
Publication Date: 2020-10

Variant appearance in text: APP: 2032G>C; Asp678His
PubMed Link: 32767553
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1443.pdf
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The Role of P2X7 Receptor in Alzheimer's Disease.

Frontiers In Molecular Neuroscience
Francistiová, Linda L; Bianchi, Carolina C; Di Lauro, Caterina C; Sebastián-Serrano, Álvaro Á; de Diego-García, Laura L; Kobolák, Julianna J; Dinnyés, András A; Díaz-Hernández, Miguel M
Publication Date: 2020

Variant appearance in text: APP: D678H
PubMed Link: 32581707
Variant Present in the following documents:
  • fnmol-13-00094.pdf
View BVdb publication page



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: D678H
PubMed Link: 32235595
Variant Present in the following documents:
  • 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: D678H
PubMed Link: 32050773
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heavy metals contaminating the environment of a progressive supranuclear palsy cluster induce tau accumulation and cell death in cultured neurons.

Scientific Reports
Alquezar, Carolina C; Felix, Jessica B JB; McCandlish, Elizabeth E; Buckley, Brian T BT; Caparros-Lefebvre, Dominique D; Karch, Celeste M CM; Golbe, Lawrence I LI; Kao, Aimee W AW
Publication Date: 2020-01-17

Variant appearance in text: APP: D678H
PubMed Link: 31953414
Variant Present in the following documents:
  • 41598_2019_Article_56930.pdf
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Assessing the therapeutic potential of Graptopetalum paraguayense on Alzheimer's disease using patient iPSC-derived neurons.

Scientific Reports
Wu, Pei-Chun PC; Fann, Ming-Ji MJ; Tran, Tu Thanh TT; Chen, Shu-Cian SC; Devina, Tania T; Cheng, Irene Han-Juo IH; Lien, Cheng-Chang CC; Kao, Lung-Sen LS; Wang, Shuu-Jiun SJ; Fuh, Jong-Ling JL; Tzeng, Tsai-Teng TT; Huang, Chi-Ying CY; Shiao, Young-Ji YJ; Wong, Yu-Hui YH
Publication Date: 2019-12-17

Variant appearance in text: APP: D678H
PubMed Link: 31848379
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deep Feature Selection and Causal Analysis of Alzheimer's Disease.

Frontiers In Neuroscience
Liu, Yuanyuan Y; Li, Zhouxuan Z; Ge, Qiyang Q; Lin, Nan N; Xiong, Momiao M
Publication Date: 2019

Variant appearance in text: APP: D678H
PubMed Link: 31802999
Variant Present in the following documents:
  • fnins-13-01198.pdf
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GSKIP-Mediated Anchoring Increases Phosphorylation of Tau by PKA but Not by GSK3beta via cAMP/PKA/GSKIP/GSK3/Tau Axis Signaling in Cerebrospinal Fluid and iPS Cells in Alzheimer Disease.

Journal Of Clinical Medicine
Ko, Huey-Jiun HJ; Chiou, Shean-Jaw SJ; Wong, Yu-Hui YH; Wang, Yin-Hsuan YH; Lai, YunLing Y; Chou, Chia-Hua CH; Wang, Chihuei C; Loh, Joon-Khim JK; Lieu, Ann-Shung AS; Cheng, Jiin-Tsuey JT; Lin, Yu-Te YT; Lu, Pei-Jung PJ; Fann, Ming-Ji MJ; Huang, Chi-Ying F CF; Hong, Yi-Ren YR
Publication Date: 2019-10-21

Variant appearance in text: APP: D678H
PubMed Link: 31640277
Variant Present in the following documents:
  • Main text
View BVdb publication page



Calcilytic NPS 2143 Reduces Amyloid Secretion and Increases sAβPPα Release from PSEN1 Mutant iPSC-Derived Neurons.

Journal Of Alzheimer'S Disease : Jad
Lo Giudice, Maria M; Mihalik, Balázs B; Turi, Zsófia Z; Dinnyés, András A; Kobolák, Julianna J
Publication Date: 2019

Variant appearance in text: APP: D678H
PubMed Link: 31640098
Variant Present in the following documents:
  • jad-72-jad190602.pdf
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Modeling Alzheimer's disease with iPSC-derived brain cells.

Molecular Psychiatry
Penney, Jay J; Ralvenius, William T WT; Tsai, Li-Huei LH
Publication Date: 2020-01

Variant appearance in text: APP: D678H
PubMed Link: 31391546
Variant Present in the following documents:
  • 41380_2019_Article_468.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: D678H
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 5
View BVdb publication page



Tau PET With 18F-THK-5351 Taiwan Patients With Familial Alzheimer's Disease With the APP p.D678H Mutation.

Frontiers In Neurology
Huang, Chin-Chang CC; Hsiao, Ing-Tsung IT; Huang, Chu-Yun CY; Weng, Yi-Ching YC; Huang, Kuo-Lun KL; Liu, Chi-Hung CH; Chang, Ting-Yu TY; Wu, Hsiu-Chuan HC; Yen, Tzu-Chen TC; Lin, Kun-Ju KJ
Publication Date: 2019

Variant appearance in text: APP: 2032G>C; D678H
PubMed Link: 31191427
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: D678H
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: D678H
PubMed Link: 30238389
Variant Present in the following documents:
  • Main text
  • 12035_2018_Article_1336.pdf
View BVdb publication page



Protein folding, misfolding and aggregation: The importance of two-electron stabilizing interactions.

Plos One
Cieplak, Andrzej Stanisław AS
Publication Date: 2017

Variant appearance in text: APP: D678H
PubMed Link: 28922400
Variant Present in the following documents:
  • pone.0180905.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: D678H
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: D678H
PubMed Link: 27135718
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: D678H
PubMed Link: 26282939
Variant Present in the following documents:
  • Main text
View BVdb publication page



Amyloid-beta (Aβ) D7H mutation increases oligomeric Aβ42 and alters properties of Aβ-zinc/copper assemblies.

Plos One
Chen, Wei-Ting WT; Hong, Chen-Jee CJ; Lin, Ya-Tzu YT; Chang, Wen-Han WH; Huang, He-Ting HT; Liao, Jhih-Ying JY; Chang, Yu-Jen YJ; Hsieh, Yi-Fang YF; Cheng, Chih-Ya CY; Liu, Hsiu-Chih HC; Chen, Yun-Ru YR; Cheng, Irene H IH
Publication Date: 2012

Variant appearance in text: APP: D678H
PubMed Link: 22558227
Variant Present in the following documents:
  • Main text
  • pone.0035807.pdf
View BVdb publication page