PSEN1 c.1099_1100delinsGA ;(p.S367D)

Variant ID: 14-73678620-AG-GA

NM_000021.3(PSEN1):c.1099_1100delinsGA;(p.S367D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Versatility of presenilin 1.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Frost, Georgia R GR; Wong, Eitan E; Li, Yue-Ming YM
Publication Date: 2017-07-03

Variant appearance in text: PS1: S367D
PubMed Link: 28645897
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bidirectional regulation of Aβ levels by Presenilin 1.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bustos, Victor V; Pulina, Maria V MV; Kelahmetoglu, Yildiz Y; Sinha, Subhash C SC; Gorelick, Fred S FS; Flajolet, Marc M; Greengard, Paul P
Publication Date: 2017-07-03

Variant appearance in text: PS1: S367D
PubMed Link: 28533411
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phosphorylated Presenilin 1 decreases β-amyloid by facilitating autophagosome-lysosome fusion.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bustos, Victor V; Pulina, Maria V MV; Bispo, Ashley A; Lam, Alison A; Flajolet, Marc M; Gorelick, Fred S FS; Greengard, Paul P
Publication Date: 2017-07-03

Variant appearance in text: PS1: S367D
PubMed Link: 28533369
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathogenic PS1 phosphorylation at Ser367.

Elife
Maesako, Masato M; Horlacher, Jana J; Zoltowska, Katarzyna M KM; Kastanenka, Ksenia V KV; Kara, Eleanna E; Svirsky, Sarah S; Keller, Laura J LJ; Li, Xuejing X; Hyman, Bradley T BT; Bacskai, Brian J BJ; Berezovska, Oksana O
Publication Date: 2017-01-30

Variant appearance in text: PS1: S367D
PubMed Link: 28132667
Variant Present in the following documents:
  • Main text
  • elife-19720.pdf
View BVdb publication page