PSEN1 c.1155T>G ;(p.D385E)

Variant ID: 14-73683859-T-G

NM_000021.3(PSEN1):c.1155T>G;(p.D385E)

This variant was identified in 3 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: D385E
PubMed Link: 29137240
Variant Present in the following documents:
  • Main text
  • oncotarget-08-82006-s001.pdf
  • oncotarget-08-82006.pdf
View BVdb publication page



Presenilin/gamma-secretase cleaves CD46 in response to Neisseria infection.

Journal Of Immunology (Baltimore, Md. : 1950)
Weyand, Nathan J NJ; Calton, Christine M CM; Higashi, Dustin L DL; Kanack, Kristen J KJ; So, Magdalene M
Publication Date: 2010-01-15

Variant appearance in text: PS1: D385E
PubMed Link: 20018629
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sortilin, SorCS1b, and SorLA Vps10p sorting receptors, are novel gamma-secretase substrates.

Molecular Neurodegeneration
Nyborg, Andrew C AC; Ladd, Thomas B TB; Zwizinski, Craig W CW; Lah, James J JJ; Golde, Todd E TE
Publication Date: 2006-06-12

Variant appearance in text: PS1: D385E
PubMed Link: 16930450
Variant Present in the following documents:
  • Main text
  • 1750-1326-1-3.pdf
View BVdb publication page