PSEN1 c.709T>A ;(p.F237I)

Variant ID: 14-73659512-T-A

NM_000021.3(PSEN1):c.709T>A;(p.F237I)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


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: Phe237Ile
PubMed Link: 37176125
Variant Present in the following documents:
  • Main text
  • ijms-24-08417.pdf
View BVdb publication page



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: Phe237Ile
PubMed Link: 33969176
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Links between Cardiovascular Diseases and Alzheimer's Disease.

Current Neuropharmacology
Leszek, Jerzy J; Mikhaylenko, Elizaveta V EV; Belousov, Dmitrii M DM; Koutsouraki, Efrosini E; Szczechowiak, Katarzyna K; Kobusiak-Prokopowicz, Małgorzata M; Mysiak, Andrzej A; Diniz, Breno Satler BS; Somasundaram, Siva G SG; Kirkland, Cecil E CE; Aliev, Gjumrakch G
Publication Date: 2021

Variant appearance in text: PS1: F237I
PubMed Link: 32727331
Variant Present in the following documents:
  • Main text
  • CN-19-152.pdf
View BVdb publication page



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: Phe237Ile
PubMed Link: 31557888
Variant Present in the following documents:
  • Main text
  • ijms-20-04757.pdf
View BVdb publication page



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: F237I
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



γ-Secretase promotes membrane insertion of the human papillomavirus L2 capsid protein during virus infection.

The Journal Of Cell Biology
Inoue, Takamasa T; Zhang, Pengwei P; Zhang, Wei W; Goodner-Bingham, Kylia K; Dupzyk, Allison A; DiMaio, Daniel D; Tsai, Billy B
Publication Date: 2018-10-01

Variant appearance in text: PS1: F237I
PubMed Link: 30006461
Variant Present in the following documents:
  • Main text
  • JCB_201804171.pdf
View BVdb publication page



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: Phe237Ile
PubMed Link: 27799753
Variant Present in the following documents:
  • Main text
  • cia-11-1467.pdf
View BVdb publication page



An atomic structure of human γ-secretase.

Nature
Bai, Xiao-Chen XC; Yan, Chuangye C; Yang, Guanghui G; Lu, Peilong P; Ma, Dan D; Sun, Linfeng L; Zhou, Rui R; Scheres, Sjors H W SHW; Shi, Yigong Y
Publication Date: 2015-09-10

Variant appearance in text: PS1: F237I
PubMed Link: 26280335
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cleavage of amyloid precursor protein by an archaeal presenilin homologue PSH.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Dang, Shangyu S; Wu, Shenjie S; Wang, Jiawei J; Li, Hongbo H; Huang, Min M; He, Wei W; Li, Yue-Ming YM; Wong, Catherine C L CC; Shi, Yigong Y
Publication Date: 2015-03-17

Variant appearance in text: PS1: F237I
PubMed Link: 25733893
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.

Journal Of Human Genetics
Kasuga, Kensaku K; Kikuchi, Masataka M; Tokutake, Takayoshi T; Nakaya, Akihiro A; Tezuka, Toshiyuki T; Tsukie, Tamao T; Hara, Norikazu N; Miyashita, Akinori A; Kuwano, Ryozo R; Ikeuchi, Takeshi T
Publication Date: 2015-05

Variant appearance in text: PSEN1: Phe237Ile
PubMed Link: 25694106
Variant Present in the following documents:
  • jhg201515x1.pdf
View BVdb publication page



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: Phe237Ile
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page



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: F237I
PubMed Link: 24377094
Variant Present in the following documents:
  • Main text
  • BMRI2013-689591.pdf
View BVdb publication page



The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Shen, Jie J; Kelleher, Raymond J RJ
Publication Date: 2007-01-09

Variant appearance in text: PS1: F237I
PubMed Link: 17197420
Variant Present in the following documents:
  • Main text
View BVdb publication page