PSEN1 c.818A>C ;(p.E273A)

Variant ID: 14-73664787-A-C

NM_000021.3(PSEN1):c.818A>C;(p.E273A)

This variant was identified in 14 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: E273A
PubMed Link: 34948396
Variant Present in the following documents:
  • Main text
  • ijms-22-13600.pdf
View BVdb publication page


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: E273A
PubMed Link: 34948396
Variant Present in the following documents:
  • Main text
  • ijms-22-13600.pdf
View BVdb publication page


Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.

Translational Psychiatry
Kakuda, Nobuto N; Takami, Mako M; Okochi, Masayasu M; Kasuga, Kensaku K; Ihara, Yasuo Y; Ikeuchi, Takeshi T
Publication Date: 2021-11-03

Variant appearance in text: PS1: E273A
PubMed Link: 34728605
Variant Present in the following documents:
  • Main text
  • 41398_2021_1684_MOESM3_ESM.pdf
  • 41398_2021_Article_1684.pdf
View BVdb publication page


Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.

Translational Psychiatry
Kakuda, Nobuto N; Takami, Mako M; Okochi, Masayasu M; Kasuga, Kensaku K; Ihara, Yasuo Y; Ikeuchi, Takeshi T
Publication Date: 2021-11-03

Variant appearance in text: PS1: E273A
PubMed Link: 34728605
Variant Present in the following documents:
  • Main text
  • 41398_2021_1684_MOESM3_ESM.pdf
  • 41398_2021_Article_1684.pdf
View BVdb publication page


Molecular Dysfunctions of Mitochondria-Associated Membranes (MAMs) in Alzheimer's Disease.

International Journal Of Molecular Sciences
Eysert, Fanny F; Kinoshita, Paula Fernanda PF; Mary, Arnaud A; Vaillant-Beuchot, Loan L; Checler, Frédéric F; Chami, Mounia M
Publication Date: 2020-12-14

Variant appearance in text: PS1: E273A
PubMed Link: 33327665
Variant Present in the following documents:
  • Main text
  • ijms-21-09521.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: Glu273Ala
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: E273A
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page


Role of presynaptic calcium stores for neural network dysfunction in Alzheimer's disease.

Neural Regeneration Research
Lerdkrai, Chommanad C; Garaschuk, Olga O
Publication Date: 2018-06

Variant appearance in text: PS1: E273A
PubMed Link: 29926819
Variant Present in the following documents:
  • Main text
  • NRR-13-977.pdf
View BVdb publication page


Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Sun, Linfeng L; Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y
Publication Date: 2017-01-24

Variant appearance in text: PS1: E273A
PubMed Link: 27930341
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: Glu273Ala
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: Glu273Ala
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page


Reduced synaptic STIM2 expression and impaired store-operated calcium entry cause destabilization of mature spines in mutant presenilin mice.

Neuron
Sun, Suya S; Zhang, Hua H; Liu, Jie J; Popugaeva, Elena E; Xu, Nan-Jie NJ; Feske, Stefan S; White, Charles L CL; Bezprozvanny, Ilya I
Publication Date: 2014-04-02

Variant appearance in text: PS1: E273A
PubMed Link: 24698269
Variant Present in the following documents:
  • Main text
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: E273A
PubMed Link: 24377094
Variant Present in the following documents:
  • Main text
  • BMRI2013-689591.pdf
View BVdb publication page


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: E273A
PubMed Link: 21663966
Variant Present in the following documents:
  • Main text
View BVdb publication page


Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

Journal Of Alzheimer'S Disease : Jad
Nelson, Omar O; Supnet, Charlene C; Liu, Huarui H; Bezprozvanny, Ilya I
Publication Date: 2010

Variant appearance in text: PS1: E273A
PubMed Link: 20634584
Variant Present in the following documents:
  • Main text
View BVdb publication page


Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1.

The Journal Of Clinical Investigation
Nelson, Omar O; Tu, Huiping H; Lei, Tianhua T; Bentahir, Mostafa M; de Strooper, Bart B; Bezprozvanny, Ilya I
Publication Date: 2007-05

Variant appearance in text: PS1: E273A
PubMed Link: 17431506
Variant Present in the following documents:
  • Main text
View BVdb publication page