PSEN1 c.1292_1293delinsAC ;(p.A431D)

Variant ID: 14-73685885-CA-AC

NM_000021.3(PSEN1):c.1292_1293delinsAC;(p.A431D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cadherins mediate both the association between PS1 and beta-catenin and the effects of PS1 on beta-catenin stability.

The Journal Of Biological Chemistry
Serban, Geo G; Kouchi, Zen Z; Baki, Lia L; Georgakopoulos, Anastasios A; Litterst, Claudia M CM; Shioi, Junichi J; Robakis, Nikolaos K NK
Publication Date: 2005-10-28

Variant appearance in text: PS1: A431D
PubMed Link: 16126725
Variant Present in the following documents:
  • Main text
View BVdb publication page



A presenilin-1/gamma-secretase cleavage releases the E-cadherin intracellular domain and regulates disassembly of adherens junctions.

The Embo Journal
Marambaud, Philippe P; Shioi, Junichi J; Serban, Geo G; Georgakopoulos, Anastasios A; Sarner, Shula S; Nagy, Vanja V; Baki, Lia L; Wen, Paul P; Efthimiopoulos, Spiros S; Shao, Zhiping Z; Wisniewski, Thomas T; Robakis, Nikolaos K NK
Publication Date: 2002-04-15

Variant appearance in text: PS1: A431D
PubMed Link: 11953314
Variant Present in the following documents:
  • Main text
View BVdb publication page