PSEN1 c.329A>C ;(p.D110A)

Variant ID: 14-73637746-A-C

NM_000021.3(PSEN1):c.329A>C;(p.D110A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Enzyme-substrate interface targeting by imidazole-based γ-secretase modulators activates γ-secretase and stabilizes its interaction with APP.

The Embo Journal
Petit, Dieter D; Hitzenberger, Manuel M; Koch, Matthias M; Lismont, Sam S; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Hopf, Carsten C; Zacharias, Martin M; Chávez-Gutiérrez, Lucía L
Publication Date: 2022-11-02

Variant appearance in text: PSEN1: D110A
PubMed Link: 36121025
Variant Present in the following documents:
  • Main text
  • EMBJ-41-e111084.pdf
  • EMBJ-41-e111084-s001.pdf
View BVdb publication page



Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.

The Journal Of Biological Chemistry
Liu, Lei L; Lauro, Bianca M BM; Wolfe, Michael S MS; Selkoe, Dennis J DJ
Publication Date: 2021

Variant appearance in text: PS1: D110A
PubMed Link: 33571524
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page