Publications:

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SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

Genes

Ruffo, Paola P; Perrone, Benedetta B; Conforti, Francesca Luisa FL

Publication Date: 2022-03-18

Variant appearance in text: PS1: 350C>G

PubMed Link: 35328090

Variant Present in the following documents:

• genes-13-00537.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: PSEN1: P117R

PubMed Link: 32962164

Variant Present in the following documents:

• Main text
• ijms-21-06867.pdf

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"Amyloid-beta accumulation cycle" as a prevention and/or therapy target for Alzheimer's disease.

Aging Cell

Rao, Chinthalapally V CV; Asch, Adam S AS; Carr, Daniel J J DJJ; Yamada, Hiroshi Y HY

Publication Date: 2020-03

Variant appearance in text: PSEN1: P117R

PubMed Link: 31981470

Variant Present in the following documents:

• Main text
• ACEL-19-e13109.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: P117R

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Opportunities and challenges for the use of induced pluripotent stem cells in modelling neurodegenerative disease.

Open Biology

Wu, Yi-Ying YY; Chiu, Feng-Lan FL; Yeh, Chan-Shien CS; Kuo, Hung-Chih HC

Publication Date: 2019-01-31

Variant appearance in text: PSEN1: P117R

PubMed Link: 30958120

Variant Present in the following documents:

• Main text
• rsob-9-180177.pdf

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The Use of Pluripotent Stem Cell-Derived Organoids to Study Extracellular Matrix Development during Neural Degeneration.

Cells

Yan, Yuanwei Y; Bejoy, Julie J; Marzano, Mark M; Li, Yan Y

Publication Date: 2019-03-14

Variant appearance in text: PSEN1: P117R

PubMed Link: 30875781

Variant Present in the following documents:

• Main text
• cells-08-00242.pdf

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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: Pro117Arg

PubMed Link: 30200536

Variant Present in the following documents:

• Main text

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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: P117R

PubMed Link: 30042426

Variant Present in the following documents:

• Main text
• 41467_2018_Article_5262.pdf

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P53 Dysfunction in Neurodegenerative Diseases - The Cause or Effect of Pathological Changes?

Aging And Disease

Szybińska, Aleksandra A; Leśniak, Wiesława W

Publication Date: 2017-07

Variant appearance in text: PS1: P117R

PubMed Link: 28840063

Variant Present in the following documents:

• Main text
• ad-8-4-506.pdf

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T Lymphocytes and Inflammatory Mediators in the Interplay between Brain and Blood in Alzheimer's Disease: Potential Pools of New Biomarkers.

Journal Of Immunology Research

Mietelska-Porowska, Anna A; Wojda, Urszula U

Publication Date: 2017

Variant appearance in text: PS1: P117R

PubMed Link: 28293644

Variant Present in the following documents:

• JIR2017-4626540.pdf

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Neuroprotective effects of apigenin against inflammation, neuronal excitability and apoptosis in an induced pluripotent stem cell model of Alzheimer's disease.

Scientific Reports

Balez, Rachelle R; Steiner, Nicole N; Engel, Martin M; Muñoz, Sonia Sanz SS; Lum, Jeremy Stephen JS; Wu, Yizhen Y; Wang, Dadong D; Vallotton, Pascal P; Sachdev, Perminder P; O'Connor, Michael M; Sidhu, Kuldip K; Münch, Gerald G; Ooi, Lezanne L

Publication Date: 2016-08-12

Variant appearance in text: PSEN1: P117R

PubMed Link: 27514990

Variant Present in the following documents:

• Main text
• srep31450.pdf

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A Unified Hypothesis of Early- and Late-Onset Alzheimer's Disease Pathogenesis.

Journal Of Alzheimer'S Disease : Jad

Atwood, Craig S CS; Bowen, Richard L RL

Publication Date: 2015

Variant appearance in text: PS1: P117R

PubMed Link: 26402752

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: PSEN1: Pro117Arg

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: P117R

PubMed Link: 24377094

Variant Present in the following documents:

• Main text
• BMRI2013-689591.pdf

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Conformational altered p53 as an early marker of oxidative stress in Alzheimer's disease.

Plos One

Buizza, Laura L; Cenini, Giovanna G; Lanni, Cristina C; Ferrari-Toninelli, Giulia G; Prandelli, Chiara C; Govoni, Stefano S; Buoso, Erica E; Racchi, Marco M; Barcikowska, Maria M; Styczynska, Maria M; Szybinska, Aleksandra A; Butterfield, David Allan DA; Memo, Maurizio M; Uberti, Daniela D

Publication Date: 2012

Variant appearance in text: PS1: P117R

PubMed Link: 22242180

Variant Present in the following documents:

• Main text
• pone.0029789.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: P117R

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: Pro117Arg

PubMed Link: 18024701

Variant Present in the following documents:

• Main text

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