PSEN1 c.404A>T ;(p.N135I)

Variant ID: 14-73640339-A-T

NM_000021.3(PSEN1):c.404A>T;(p.N135I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Soluble γ-secretase modulators selectively inhibit the production of the 42-amino acid amyloid β peptide variant and augment the production of multiple carboxy-truncated amyloid β species.

Biochemistry
Wagner, Steven L SL; Zhang, Can C; Cheng, Soan S; Nguyen, Phuong P; Zhang, Xulun X; Rynearson, Kevin D KD; Wang, Rong R; Li, Yueming Y; Sisodia, Sangram S SS; Mobley, William C WC; Tanzi, Rudolph E RE
Publication Date: 2014-02-04

Variant appearance in text: PS1: N135I
PubMed Link: 24401146
Variant Present in the following documents:
  • Main text
  • bi401537v.pdf
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: N135I
PubMed Link: 21357415
Variant Present in the following documents:
  • Main text
View BVdb publication page