PSEN1 c.1259T>G ;(p.L420R)

Variant ID: 14-73685852-T-G

NM_000021.3(PSEN1):c.1259T>G;(p.L420R)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.

Brain Communications
Ringman, John M JM; Dorrani, Naghmeh N; Fernández, Sara Gutiérrez SG; Signer, Rebecca R; Martinez-Agosto, Julian J; Lee, Hane H; Douine, Emilie D ED; Qiao, Yuchuan Y; Shi, Yonggang Y; D'Orazio, Lina L; Pawar, Sanjay S; Robbie, Leah L; Kashani, Amir H AH; Singer, Maxwell M; Byers, Joshua T JT; Magaki, Shino S; Guzman, Sam S; Sagare, Abhay A; Zlokovic, Berislav B; Cederbaum, Stephen S; Nelson, Stanley S; Sheikh-Bahaei, Nasim N; Chui, Helena C HC; Chávez-Gutiérrez, Lucía L; Vinters, Harry V HV
Publication Date: 2023

Variant appearance in text: PSEN1: L420R
PubMed Link: 36895955
Variant Present in the following documents:
  • fcad030.pdf
View BVdb publication page



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: Leu420Arg
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



Alzheimer's disease and epilepsy: The top 100 cited papers.

Frontiers In Aging Neuroscience
Zhang, Gui-Fen GF; Gong, Wen-Xin WX; Xu, Zheng-Yan-Ran ZY; Guo, Yi Y
Publication Date: 2022

Variant appearance in text: PSEN1: L420R
PubMed Link: 35936776
Variant Present in the following documents:
  • Main text
  • fnagi-14-926982.pdf
View BVdb publication page



Sleep: The Tip of the Iceberg in the Bidirectional Link Between Alzheimer's Disease and Epilepsy.

Frontiers In Neurology
B Szabo, Anna A; Cretin, Benjamin B; Gérard, Fleur F; Curot, Jonathan J; J Barbeau, Emmanuel E; Pariente, Jérémie J; Dahan, Lionel L; Valton, Luc L
Publication Date: 2022

Variant appearance in text: PSEN1: L420R
PubMed Link: 35481265
Variant Present in the following documents:
  • fneur-13-836292.pdf
View BVdb publication page



Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)
Willumsen, Nanet N; Poole, Teresa T; Nicholas, Jennifer M JM; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T
Publication Date: 2022-05

Variant appearance in text: PSEN1: L420R
PubMed Link: 34319632
Variant Present in the following documents:
  • BPA-32-e13009.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: L420R
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer's disease with cotton wool plaques due to a novel presenilin1 G417S mutation.

Acta Neuropathologica Communications
Miki, Tomoko T; Yokota, Osamu O; Haraguchi, Takashi T; Ikeuchi, Takeshi T; Zhu, Bin B; Takenoshita, Shintaro S; Terada, Seishi S; Yamada, Norihito N
Publication Date: 2019-02-12

Variant appearance in text: PSEN1: L420R
PubMed Link: 30755281
Variant Present in the following documents:
  • Main text
  • 40478_2019_Article_672.pdf
View BVdb publication page



Blood-Brain Barrier: From Physiology to Disease and Back.

Physiological Reviews
Sweeney, Melanie D MD; Zhao, Zhen Z; Montagne, Axel A; Nelson, Amy R AR; Zlokovic, Berislav V BV
Publication Date: 2019-01-01

Variant appearance in text: PSEN1: L420R
PubMed Link: 30280653
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

Frontiers In Neuroscience
Ibanez, Laura L; Dube, Umber U; Davis, Albert A AA; Fernandez, Maria V MV; Budde, John J; Cooper, Breanna B; Diez-Fairen, Monica M; Ortega-Cubero, Sara S; Pastor, Pau P; Perlmutter, Joel S JS; Cruchaga, Carlos C; Benitez, Bruno A BA
Publication Date: 2018

Variant appearance in text: PSEN1: L420R
PubMed Link: 29692703
Variant Present in the following documents:
  • Main text
  • fnins-12-00230.pdf
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: L420R
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: Leu420Arg
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: Leu420Arg
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: L420R
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: L420R
PubMed Link: 21663966
Variant Present in the following documents:
  • Main text
View BVdb publication page



A perfect storm: Converging paths of epilepsy and Alzheimer's dementia intersect in the hippocampal formation.

Epilepsia
Noebels, Jeffrey J
Publication Date: 2011-01

Variant appearance in text: PSEN1: L420R
PubMed Link: 21214538
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: L420R
PubMed Link: 20634584
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insulin promotes survival of amyloid-beta oligomers neuroblastoma damaged cells via caspase 9 inhibition and Hsp70 upregulation.

Journal Of Biomedicine & Biotechnology
Di Carlo, M M; Picone, P P; Carrotta, R R; Giacomazza, D D; San Biagio, P L PL
Publication Date: 2010

Variant appearance in text: PSEN1: L420R
PubMed Link: 20490276
Variant Present in the following documents:
  • JBB2010-147835.pdf
View BVdb publication page