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: Arg278Lys

PubMed Link: 37176125

Variant Present in the following documents:

• ijms-24-08417.pdf

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Human iPSC-Derived Hippocampal Spheroids: An Innovative Tool for Stratifying Alzheimer Disease Patient-Specific Cellular Phenotypes and Developing Therapies.

Stem Cell Reports

Pomeshchik, Yuriy Y; Klementieva, Oxana O; Gil, Jeovanis J; Martinsson, Isak I; Hansen, Marita Grønning MG; de Vries, Tessa T; Sancho-Balsells, Anna A; Russ, Kaspar K; Savchenko, Ekaterina E; Collin, Anna A; Vaz, Ana Rita AR; Bagnoli, Silvia S; Nacmias, Benedetta B; Rampon, Claire C; Sorbi, Sandro S; Brites, Dora D; Marko-Varga, György G; Kokaia, Zaal Z; Rezeli, Melinda M; Gouras, Gunnar K GK; Roybon, Laurent L

Publication Date: 2023-05-09

Variant appearance in text: PS1: R278K

PubMed Link: 37163981

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Chaperone-Dependent Mechanisms as a Pharmacological Target for Neuroprotection.

International Journal Of Molecular Sciences

Voronin, Mikhail V MV; Abramova, Elena V EV; Verbovaya, Ekaterina R ER; Vakhitova, Yulia V YV; Seredenin, Sergei B SB

Publication Date: 2023-01-03

Variant appearance in text: PSEN1: Arg278Lys

PubMed Link: 36614266

Variant Present in the following documents:

• Main text
• ijms-24-00823.pdf

View BVdb publication page

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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: R278K

PubMed Link: 36142879

Variant Present in the following documents:

• ijms-23-10970.pdf

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Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.

Alzheimer'S & Dementia (Amsterdam, Netherlands)

Chelban, Viorica V; Breza, Marianthi M; Szaruga, Maria M; Vandrovcova, Jana J; Murphy, David D; Lee, Chia-Ju CJ; Alikhwan, Sondos S; Bourinaris, Thomas T; Vavougios, George G; Ilyas, Muhammad M; Halim, Sobia Ahsan SA; Al-Harrasi, Ahmed A; Kartanou, Chrisoula C; Ronald, Coras C; Blumcke, Ingmar I; Alexoudi, Athanasia A; Gatzonis, Stylianos S; Stefanis, Leonidas L; Karadima, Georgia G; Wood, Nicholas W NW; Chávez-Gutiérrez, Lucía L; Hardy, John J; Houlden, Henry H; Koutsis, Georgios G

Publication Date: 2021

Variant appearance in text: PSEN1: Arg278Lys

PubMed Link: 33969176

Variant Present in the following documents:

• Main text

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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: PS1: R278K

PubMed Link: 32962164

Variant Present in the following documents:

• Main text
• ijms-21-06867.pdf

View BVdb publication page

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Human iPSC-Derived Hippocampal Spheroids: An Innovative Tool for Stratifying Alzheimer Disease Patient-Specific Cellular Phenotypes and Developing Therapies.

Stem Cell Reports

Pomeshchik, Yuriy Y; Klementieva, Oxana O; Gil, Jeovanis J; Martinsson, Isak I; Hansen, Marita Grønning MG; de Vries, Tessa T; Sancho-Balsells, Anna A; Russ, Kaspar K; Savchenko, Ekaterina E; Collin, Anna A; Vaz, Ana Rita AR; Bagnoli, Silvia S; Nacmias, Benedetta B; Rampon, Claire C; Sorbi, Sandro S; Brites, Dora D; Marko-Varga, György G; Kokaia, Zaal Z; Rezeli, Melinda M; Gouras, Gunnar K GK; Roybon, Laurent L

Publication Date: 2020-07-14

Variant appearance in text: PS1: R278K

PubMed Link: 32589876

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf
• mmc6.pdf

View BVdb publication page

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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: R278K

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: PSEN1: R278K

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

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: Arg278Lys

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

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