Publications:

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Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Val97Leu

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Exploring the Involvement of the Amyloid Precursor Protein A673T Mutation against Amyloid Pathology and Alzheimer's Disease in Relation to Therapeutic Editing Tools.

Pharmaceutics

Stanciu, Gabriela Dumitrita GD; Ababei, Daniela Carmen DC; Rusu, Razvan Nicolae RN; Bild, Veronica V; Tamba, Bogdan-Ionel BI

Publication Date: 2022-06-15

Variant appearance in text: PSEN1: V97L

PubMed Link: 35745842

Variant Present in the following documents:

• pharmaceutics-14-01270.pdf

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Application of CRISPR/Cas9 in Alzheimer's Disease.

Frontiers In Neuroscience

Lu, Likui L; Yu, Xi X; Cai, Yongle Y; Sun, Miao M; Yang, Hao H

Publication Date: 2021

Variant appearance in text: PSEN1: V97L

PubMed Link: 34992519

Variant Present in the following documents:

• Main text

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Secretases Related to Amyloid Precursor Protein Processing.

Membranes

Liu, Xiaoling X; Liu, Yan Y; Ji, Shangrong S

Publication Date: 2021-12-15

Variant appearance in text: PS1: Val97Leu

PubMed Link: 34940484

Variant Present in the following documents:

• Main text
• membranes-11-00983.pdf

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Secretases Related to Amyloid Precursor Protein Processing.

Membranes

Liu, Xiaoling X; Liu, Yan Y; Ji, Shangrong S

Publication Date: 2021-12-15

Variant appearance in text: PS1: Val97Leu

PubMed Link: 34940484

Variant Present in the following documents:

• Main text
• membranes-11-00983.pdf

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A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.

Brain Sciences

Bagyinszky, Eva E; Ch'ng, Gaik-Siew GS; Chan, Mei-Yan MY; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2021-10-08

Variant appearance in text: PSEN1: Val97Leu

PubMed Link: 34679393

Variant Present in the following documents:

• Main text
• brainsci-11-01328.pdf

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Epileptic Mechanisms Shared by Alzheimer's Disease: Viewed via the Unique Lens of Genetic Epilepsy.

International Journal Of Molecular Sciences

Kang, Jing-Qiong JQ

Publication Date: 2021-07-01

Variant appearance in text: PSEN1: V97L

PubMed Link: 34281185

Variant Present in the following documents:

• Main text
• ijms-22-07133.pdf

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Pre-Clinical Neuroprotective Evidences and Plausible Mechanisms of Sulforaphane in Alzheimer's Disease.

International Journal Of Molecular Sciences

Kim, Jiyoung J

Publication Date: 2021-03-13

Variant appearance in text: PS1: Val97Leu

PubMed Link: 33805772

Variant Present in the following documents:

• Main text
• ijms-22-02929.pdf

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CRISPR-Cas9: A Promising Genome Editing Therapeutic Tool for Alzheimer's Disease-A Narrative Review.

Neurology And Therapy

Barman, Nirmal Chandra NC; Khan, Niuz Morshed NM; Islam, Maidul M; Nain, Zulkar Z; Roy, Rajib Kanti RK; Haque, Anwarul A; Barman, Shital Kumar SK

Publication Date: 2020-12

Variant appearance in text: PSEN1: V97L

PubMed Link: 33089409

Variant Present in the following documents:

• 40120_2020_Article_218.pdf

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STIM1 Deficiency Leads to Specific Down-Regulation of ITPR3 in SH-SY5Y Cells.

International Journal Of Molecular Sciences

Pascual-Caro, Carlos C; Orantos-Aguilera, Yolanda Y; Sanchez-Lopez, Irene I; de Juan-Sanz, Jaime J; Parys, Jan B JB; Area-Gomez, Estela E; Pozo-Guisado, Eulalia E; Martin-Romero, Francisco Javier FJ

Publication Date: 2020-09-09

Variant appearance in text: PSEN1: V97L

PubMed Link: 32916960

Variant Present in the following documents:

• Main text
• ijms-21-06598.pdf

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Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population.

Alzheimer'S & Dementia (Amsterdam, Netherlands)

Zhou, Xiaopu X; Chen, Yu Y; Ip, Fanny C F FCF; Lai, Nicole C H NCH; Li, Yolanda Y T YYT; Jiang, Yuanbing Y; Zhong, Huan H; Chen, Yuewen Y; Zhang, Yulin Y; Ma, Shuangshuang S; Lo, Ronnie M N RMN; Cheung, Kit K; Tong, Estella P S EPS; Ko, Ho H; Shoai, Maryam M; Mok, Kin Y KY; Hardy, John J; Mok, Vincent C T VCT; Kwok, Timothy C Y TCY; Fu, Amy K Y AKY; Ip, Nancy Y NY

Publication Date: 2020

Variant appearance in text: PSEN1: V97L

PubMed Link: 32775599

Variant Present in the following documents:

• Main text

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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: PSEN1: V97L

PubMed Link: 32235595

Variant Present in the following documents:

• Main text
• ijms-21-02381.pdf

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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: PSEN1: Val97Leu

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: PSEN1: V97L

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Toxic amyloid-β oligomers induced self-replication in astrocytes triggering neuronal injury.

Ebiomedicine

Wang, Wei W; Hou, Ting-Ting TT; Jia, Long-Fei LF; Wu, Qiao-Qi QQ; Quan, Mei-Na MN; Jia, Jian-Ping JP

Publication Date: 2019-04

Variant appearance in text: PSEN1: Val97Leu

PubMed Link: 30926423

Variant Present in the following documents:

• Main text
• main.pdf

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Genome-editing applications of CRISPR-Cas9 to promote in vitro studies of Alzheimer's disease.

Clinical Interventions In Aging

Giau, Vo Van VV; Lee, Hyon H; Shim, Kyu Hwan KH; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2018

Variant appearance in text: PSEN1: V97L

PubMed Link: 29445268

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: PSEN1: Val97Leu

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.pdf

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Familial Alzheimer's disease-associated presenilin 1 mutants promote γ-secretase cleavage of STIM1 to impair store-operated Ca2+ entry.

Science Signaling

Tong, Benjamin Chun-Kit BC; Lee, Claire Shuk-Kwan CS; Cheng, Wing-Hei WH; Lai, Kwok-On KO; Foskett, J Kevin JK; Cheung, King-Ho KH

Publication Date: 2016-09-06

Variant appearance in text: PS1: V97L

PubMed Link: 27601731

Variant Present in the following documents:

• Main text

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FAD-linked Presenilin-1 V97L mutation impede tranport regulation and intracellular Ca(2+) homeostasis under ER stress.

International Journal Of Clinical And Experimental Medicine

Shao, Yankun Y; Li, Miao M; Wu, Miao M; Shi, Kai K; Fang, Boyan B; Wang, Jie J

Publication Date: 2015

Variant appearance in text: PS1: V97L

PubMed Link: 26884997

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: PS1: V97L

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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A lifespan observation of a novel mouse model: in vivo evidence supports aβ oligomer hypothesis.

Plos One

Zhang, Yichi Y; Lu, Lu L; Jia, Jianping J; Jia, Longfei L; Geula, Changiz C; Pei, Jinjing J; Xu, Zhiqing Z; Qin, Wei W; Liu, Ruiqin R; Li, Dan D; Pan, Na N

Publication Date: 2014

Variant appearance in text: PS1: Val97Leu

PubMed Link: 24465766

Variant Present in the following documents:

• Main text
• pone.0085885.pdf

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Oleic acid ameliorates amyloidosis in cellular and mouse models of Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Amtul, Zareen Z; Westaway, David D; Cechetto, David F DF; Rozmahel, Richard F RF

Publication Date: 2011-05

Variant appearance in text: PS1: V97L

PubMed Link: 21040071

Variant Present in the following documents:

• Main text

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