PSEN1 c.1271T>A ;(p.L424H)

Variant ID: 14-73685864-T-A

NM_000021.3(PSEN1):c.1271T>A;(p.L424H)

This variant was identified in 7 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: Leu424His
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD.

Frontiers In Psychiatry
Stoychev, Kaloyan R KR; Stoimenova-Popova, Maya M; Chumpalova, Petranka P; Ilieva, Lilia L; Swamad, Mohamed M; Kamburova-Martinova, Zornitsa Z
Publication Date: 2019

Variant appearance in text: PSEN1: Leu424His
PubMed Link: 31920735
Variant Present in the following documents:
  • Main text
  • fpsyt-10-00857.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: L424H
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
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: Leu424His
PubMed Link: 24729694
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: L424H
PubMed Link: 24377094
Variant Present in the following documents:
  • Main text
View BVdb publication page



Presenilin/gamma-Secretase and Inflammation.

Frontiers In Aging Neuroscience
Saura, Carlos A CA
Publication Date: 2010

Variant appearance in text: PSEN1: L424H
PubMed Link: 20559464
Variant Present in the following documents:
  • Main text
  • fnagi-02-00016.pdf
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: L424H
PubMed Link: 17431506
Variant Present in the following documents:
  • Main text
View BVdb publication page