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: Ala136Gly

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.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: Ala136Gly

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: Ala136Gly

PubMed Link: 34940484

Variant Present in the following documents:

• Main text
• membranes-11-00983.pdf

View BVdb publication page

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Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy.

Alzheimer Disease And Associated Disorders

Li, Xu-Ying XY; Cui, Yue Y; Jing, Donglai D; Xie, Kexin K; Zhong, Xiaoling X; Kong, Yu Y; Wang, Yuting Y; Chu, Min M; Wang, Chaodong C; Wu, Liyong L

Publication Date: 2021

Variant appearance in text: PSEN1: A136G

PubMed Link: 33973882

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: A136G

PubMed Link: 32916960

Variant Present in the following documents:

• Main text
• ijms-21-06598.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: PSEN1: 407C>G

PubMed Link: 32767553

Variant Present in the following documents:

• Main text
• MGG3-8-e1443.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: PSEN1: A136G

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: Ala136Gly

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: A136G

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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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: Ala136Gly

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: A136G

PubMed Link: 27601731

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: PSEN1: Ala136Gly

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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