Publications:

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Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2023-05-08

Variant appearance in text: PSEN1: Pro117Ser

PubMed Link: 37176125

Variant Present in the following documents:

• Main text
• ijms-24-08417.pdf

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Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation.

Journal Of Alzheimer'S Disease : Jad

Libard, Sylwia S; Giedraitis, Vilmantas V; Kilander, Lena L; Ingelsson, Martin M; Alafuzoff, Irina I

Publication Date: 2022-10-22

Variant appearance in text: PS1: Pro117Ser

PubMed Link: 36314207

Variant Present in the following documents:

• jad-90-jad220655.pdf

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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: Pro117Ser

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

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Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.

The Journal Of Biological Chemistry

Liu, Lei L; Lauro, Bianca M BM; Wolfe, Michael S MS; Selkoe, Dennis J DJ

Publication Date: 2021

Variant appearance in text: PS1: P117S

PubMed Link: 33571524

Variant Present in the following documents:

• Main text
• main.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: P117S

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Bagyinszky, Eva E; Lee, Hye-Mi HM; Van Giau, Vo V; Koh, Seong-Beom SB; Jeong, Jee Hyang JH; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018-09-02

Variant appearance in text: PSEN1: Pro117Ser

PubMed Link: 30200536

Variant Present in the following documents:

• Main text

View BVdb publication page

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Introduction of pathogenic mutations into the mouse Psen1 gene by Base Editor and Target-AID.

Nature Communications

Sasaguri, Hiroki H; Nagata, Kenichi K; Sekiguchi, Misaki M; Fujioka, Ryo R; Matsuba, Yukio Y; Hashimoto, Shoko S; Sato, Kaori K; Kurup, Deepika D; Yokota, Takanori T; Saido, Takaomi C TC

Publication Date: 2018-07-24

Variant appearance in text: PS1: P117S

PubMed Link: 30042426

Variant Present in the following documents:

• Main text
• 41467_2018_5262_MOESM1_ESM.pdf
• 41467_2018_Article_5262.pdf

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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: Pro117Ser

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Biomed Research International

Pilotto, Andrea A; Padovani, Alessandro A; Borroni, Barbara B

Publication Date: 2013

Variant appearance in text: PSEN1: P117S

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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Advances in the pathogenesis of Alzheimer's disease: a re-evaluation of amyloid cascade hypothesis.

Translational Neurodegeneration

Dong, Suzhen S; Duan, Yale Y; Hu, Yinghe Y; Zhao, Zheng Z

Publication Date: 2012-09-21

Variant appearance in text: PS1: P117S

PubMed Link: 23210692

Variant Present in the following documents:

• Main text
• 2047-9158-1-18.pdf

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The usefulness of biological and neuroimaging markers for the diagnosis of early-onset Alzheimer's disease.

International Journal Of Alzheimer'S Disease

Padovani, Alessandro A; Gilberti, Nicola N; Borroni, Barbara B

Publication Date: 2011-02-21

Variant appearance in text: PSEN1: Pro117Ser

PubMed Link: 21559247

Variant Present in the following documents:

• IJAD2011-296374.pdf

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Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life.

Neuroscience Letters

Kauwe, John S K JS; Wang, Jun J; Chakraverty, Sumi S; Goate, Alison M AM; Henao-Martinez, Andres F AF

Publication Date: 2008-06-20

Variant appearance in text: PSEN1: P117S

PubMed Link: 18479822

Variant Present in the following documents:

• Main text

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Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.

Journal Of Neurology, Neurosurgery, And Psychiatry

Anheim, M M; Hannequin, D D; Boulay, C C; Martin, C C; Campion, D D; Tranchant, C C

Publication Date: 2007-12

Variant appearance in text: PSEN1: Pro117Ser

PubMed Link: 18024701

Variant Present in the following documents:

• Main text

View BVdb publication page

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