PSEN1 c.1304T>A ;(p.L435H)

Variant ID: 14-73685897-T-A

NM_000021.3(PSEN1):c.1304T>A;(p.L435H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Generation and deposition of Aβ43 by the virtually inactive presenilin-1 L435F mutant contradicts the presenilin loss-of-function hypothesis of Alzheimer's disease.

Embo Molecular Medicine
Kretner, Benedikt B; Trambauer, Johannes J; Fukumori, Akio A; Mielke, Janina J; Kuhn, Peer-Hendrik PH; Kremmer, Elisabeth E; Giese, Armin A; Lichtenthaler, Stefan F SF; Haass, Christian C; Arzberger, Thomas T; Steiner, Harald H
Publication Date: 2016-05

Variant appearance in text: PS1: L435H
PubMed Link: 26988102
Variant Present in the following documents:
  • Main text
  • EMMM-8-458.pdf
View BVdb publication page



Differential regulation of amyloid precursor protein/presenilin 1 interaction during Aβ40/42 [corrected] production detected using fusion constructs.

Plos One
Sato, Naoyuki N; Okochi, Masayasu M; Shinohara, Mitsuru M; Thinakaran, Gopal G; Takeda, Shuko S; Fukumori, Akio A; Shinohara-Noma, Motoko M; Mori-Ueda, Mari M; Hamada, Hizuki H; Takeda, Masatoshi M; Rakugi, Hiromi H; Morishita, Ryuichi R
Publication Date: 2012

Variant appearance in text: PS1: L435H
PubMed Link: 23152781
Variant Present in the following documents:
  • Main text
  • pone.0048551.pdf
View BVdb publication page