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: Arg278Thr

PubMed Link: 37176125

Variant Present in the following documents:

• ijms-24-08417.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PSEN1: 833G>C; Arg278Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: R278T

PubMed Link: 36142879

Variant Present in the following documents:

• ijms-23-10970.pdf

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Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Molecular Psychiatry

Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L

Publication Date: 2022-06

Variant appearance in text: PSEN1: R278T

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: R278T

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: R278T

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

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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: Arg278Thr

PubMed Link: 33969176

Variant Present in the following documents:

• Main text

View BVdb publication page

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The R278I Mutation of PSEN1 in the Familial Alzheimer Disease.

Dementia And Neurocognitive Disorders

Kim, Jong Hun JH; Choi, Seong Hye SH; Lee, Jun Hong JH

Publication Date: 2020-03

Variant appearance in text: PSEN1: R278T

PubMed Link: 32174048

Variant Present in the following documents:

• Main text
• dnd-19-33.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: R278T

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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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: Arg278Thr

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Biological function of Presenilin and its role in AD pathogenesis.

Translational Neurodegeneration

Zhang, Shuting S; Zhang, Mingming M; Cai, Fang F; Song, Weihong W

Publication Date: 2013-07-17

Variant appearance in text: PS1: R278T

PubMed Link: 23866842

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mechanism of intramembrane cleavage of alcadeins by γ-secretase.

Plos One

Piao, Yi Y; Kimura, Ayano A; Urano, Satomi S; Saito, Yuhki Y; Taru, Hidenori H; Yamamoto, Tohru T; Hata, Saori S; Suzuki, Toshiharu T

Publication Date: 2013

Variant appearance in text: PS1: R278T

PubMed Link: 23658629

Variant Present in the following documents:

• Main text
• pone.0062431.pdf

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Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.

Cell Calcium

Supnet, Charlene C; Bezprozvanny, Ilya I

Publication Date: 2011-09

Variant appearance in text: PS1: R278T

PubMed Link: 21663966

Variant Present in the following documents:

• Main text

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Alcadein cleavages by amyloid beta-precursor protein (APP) alpha- and gamma-secretases generate small peptides, p3-Alcs, indicating Alzheimer disease-related gamma-secretase dysfunction.

The Journal Of Biological Chemistry

Hata, Saori S; Fujishige, Sayaka S; Araki, Yoichi Y; Kato, Naoko N; Araseki, Masahiko M; Nishimura, Masaki M; Hartmann, Dieter D; Saftig, Paul P; Fahrenholz, Falk F; Taniguchi, Miyako M; Urakami, Katsuya K; Akatsu, Hiroyasu H; Martins, Ralph N RN; Yamamoto, Kazuo K; Maeda, Masahiro M; Yamamoto, Tohru T; Nakaya, Tadashi T; Gandy, Sam S; Suzuki, Toshiharu T

Publication Date: 2009-12-25

Variant appearance in text: PS1: R278T

PubMed Link: 19864413

Variant Present in the following documents:

• Main text

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Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.

Journal Of Korean Medical Science

Park, Hyun-Kyung HK; Na, Duk Lyul DL; Lee, Jae-Hong JH; Kim, Jong-Won JW; Ki, Chang-Seok CS

Publication Date: 2008-04

Variant appearance in text: PS1: R278T

PubMed Link: 18437002

Variant Present in the following documents:

• jkms-23-213.pdf

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