PSEN1 c.637A>C ;(p.I213L)

Variant ID: 14-73659440-A-C

NM_000021.3(PSEN1):c.637A>C;(p.I213L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: Ile213Leu; rs63750861
PubMed Link: 36614266
Variant Present in the following documents:
  • Main text
  • ijms-24-00823.pdf
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: I213L
PubMed Link: 32727331
Variant Present in the following documents:
  • Main text
  • CN-19-152.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: I213L
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
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: I213L
PubMed Link: 26280335
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports
Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,
Publication Date: 2014-11

Variant appearance in text: PSEN1: Ile213Leu
PubMed Link: 25217249
Variant Present in the following documents:
  • Main text
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: Ile213Leu
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page