PSEN1 c.1297C>G ;(p.P433A)

Variant ID: 14-73685890-C-G

NM_000021.3(PSEN1):c.1297C>G;(p.P433A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.

Oncotarget
Grigorenko, Anastasia P AP; Moliaka, Youri K YK; Plotnikova, Olga V OV; Smirnov, Alexander A; Nikishina, Vera A VA; Goltsov, Andrey Y AY; Gusev, Fedor F; Andreeva, Tatiana V TV; Nelson, Omar O; Bezprozvanny, Ilya I; Rogaev, Evgeny I EI
Publication Date: 2017-10-10

Variant appearance in text: PSEN1: P433A
PubMed Link: 29137240
Variant Present in the following documents:
  • Main text
  • oncotarget-08-82006-s001.pdf
  • oncotarget-08-82006.pdf
View BVdb publication page



Mutagenesis mapping of the presenilin 1 calcium leak conductance pore.

The Journal Of Biological Chemistry
Nelson, Omar O; Supnet, Charlene C; Tolia, Alexandra A; Horré, Katrien K; De Strooper, Bart B; Bezprozvanny, Ilya I
Publication Date: 2011-06-24

Variant appearance in text: PS1: P433A
PubMed Link: 21531718
Variant Present in the following documents:
  • Main text
View BVdb publication page



Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.

The Journal Of Biological Chemistry
Kretner, Benedikt B; Fukumori, Akio A; Gutsmiedl, Amelie A; Page, Richard M RM; Luebbers, Thomas T; Galley, Guido G; Baumann, Karlheinz K; Haass, Christian C; Steiner, Harald H
Publication Date: 2011-04-29

Variant appearance in text: PS1: P433A
PubMed Link: 21357415
Variant Present in the following documents:
  • Main text
View BVdb publication page