PSEN1 c.244G>T ;(p.V82L)

Variant ID: 14-73637661-G-T

NM_000021.3(PSEN1):c.244G>T;(p.V82L)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: Val82Leu
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.

Brain Sciences
Bagyinszky, Eva E; Ch'ng, Gaik-Siew GS; Chan, Mei-Yan MY; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2021-10-08

Variant appearance in text: PSEN1: Val82Leu
PubMed Link: 34679393
Variant Present in the following documents:
  • Main text
  • brainsci-11-01328.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: V82L
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Human Mutation
Schepers, Dorien D; Tortora, Giada G; Morisaki, Hiroko H; MacCarrick, Gretchen G; Lindsay, Mark M; Liang, David D; Mehta, Sarju G SG; Hague, Jennifer J; Verhagen, Judith J; van de Laar, Ingrid I; Wessels, Marja M; Detisch, Yvonne Y; van Haelst, Mieke M; Baas, Annette A; Lichtenbelt, Klaske K; Braun, Kees K; van der Linde, Denise D; Roos-Hesselink, Jolien J; McGillivray, George G; Meester, Josephina J; Maystadt, Isabelle I; Coucke, Paul P; El-Khoury, Elie E; Parkash, Sandhya S; Diness, Birgitte B; Risom, Lotte L; Scurr, Ingrid I; Hilhorst-Hofstee, Yvonne Y; Morisaki, Takayuki T; Richer, Julie J; Désir, Julie J; Kempers, Marlies M; Rideout, Andrea L AL; Horne, Gabrielle G; Bennett, Chris C; Rahikkala, Elisa E; Vandeweyer, Geert G; Alaerts, Maaike M; Verstraeten, Aline A; Dietz, Hal H; Van Laer, Lut L; Loeys, Bart B
Publication Date: 2018-05

Variant appearance in text: PS1: 244G>T
PubMed Link: 29392890
Variant Present in the following documents:
  • HUMU-39-621-s001.pdf
View BVdb publication page



Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.

Frontiers In Aging Neuroscience
Li, Nuomin N; Liu, Kefu K; Qiu, Yunjie Y; Ren, Zehui Z; Dai, Rongji R; Deng, Yulin Y; Qing, Hong H
Publication Date: 2016

Variant appearance in text: PS1: V82L
PubMed Link: 27014058
Variant Present in the following documents:
  • Main text
  • fnagi-08-00051.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: Val82Leu
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page



Presenilin1/gamma-secretase promotes the EphB2-induced phosphorylation of ephrinB2 by regulating phosphoprotein associated with glycosphingolipid-enriched microdomains/Csk binding protein.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Georgakopoulos, Anastasios A; Xu, Jindong J; Xu, Chijie C; Mauger, Gweltas G; Barthet, Gael G; Robakis, Nikolaos K NK
Publication Date: 2011-10

Variant appearance in text: PS1: V82L
PubMed Link: 21746865
Variant Present in the following documents:
  • Main text
View BVdb publication page



Wild-type but not FAD mutant presenilin-1 prevents neuronal degeneration by promoting phosphatidylinositol 3-kinase neuroprotective signaling.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Baki, Lia L; Neve, Rachael L RL; Shao, Zhiping Z; Shioi, Junichi J; Georgakopoulos, Anastasios A; Robakis, Nikolaos K NK
Publication Date: 2008-01-09

Variant appearance in text: PS1: V82L
PubMed Link: 18184791
Variant Present in the following documents:
  • Main text
View BVdb publication page