PSEN1 c.1099_1100delinsGC ;(p.S367A)

Variant ID: 14-73678620-AG-GC

NM_000021.3(PSEN1):c.1099_1100delinsGC;(p.S367A)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Lack of a site-specific phosphorylation of Presenilin 1 disrupts microglial gene networks and progenitors during development.

Plos One
Ledo, Jose Henrique JH; Zhang, Ran R; Mesin, Luka L; Mourão-Sá, Diego D; Azevedo, Estefania P EP; Troyanskaya, Olga G OG; Bustos, Victor V; Greengard, Paul P
Publication Date: 2020

Variant appearance in text: PS1: S367A
PubMed Link: 32822378
Variant Present in the following documents:
  • Main text
View BVdb publication page



Presenilin 1 phosphorylation regulates amyloid-β degradation by microglia.

Molecular Psychiatry
Ledo, Jose Henrique JH; Liebmann, Thomas T; Zhang, Ran R; Chang, Jerry C JC; Azevedo, Estefania P EP; Wong, Eitan E; Silva, Hernandez Moura HM; Troyanskaya, Olga G OG; Bustos, Victor V; Greengard, Paul P
Publication Date: 2021-10

Variant appearance in text: PS1: S367A
PubMed Link: 32792660
Variant Present in the following documents:
  • Main text
  • 41380_2020_Article_856.pdf
View BVdb publication page



Presenilins and γ-Secretase in Membrane Proteostasis.

Cells
Oikawa, Naoto N; Walter, Jochen J
Publication Date: 2019-03-01

Variant appearance in text: PS1: S367A
PubMed Link: 30823664
Variant Present in the following documents:
  • Main text
  • cells-08-00209.pdf
View BVdb publication page



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: S367A
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: S367A
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: S367A
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: S367A
PubMed Link: 28132667
Variant Present in the following documents:
  • Main text
  • elife-19720.pdf
View BVdb publication page