PSEN1 c.1145G>C ;(p.G382A)

Variant ID: 14-73683849-G-C

NM_000021.3(PSEN1):c.1145G>C;(p.G382A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Aβ43-producing PS1 FAD mutants cause altered substrate interactions and respond to γ-secretase modulation.

Embo Reports
Trambauer, Johannes J; Rodríguez Sarmiento, Rosa María RM; Fukumori, Akio A; Feederle, Regina R; Baumann, Karlheinz K; Steiner, Harald H
Publication Date: 2020-01-07

Variant appearance in text: PS1: G382A
PubMed Link: 31762188
Variant Present in the following documents:
  • Main text
  • EMBR-21-e47996-s010.pdf
  • EMBR-21-e47996-s008.pdf
  • EMBR-21-e47996.pdf
  • EMBR-21-e47996-s005.pdf
  • EMBR-21-e47996-s002.pdf
View BVdb publication page



Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.

Oncotarget
Grigorenko, Anastasia P AP; Moliaka, Youri K YK; Plotnikova, Olga V OV; Smirnov, Alexander A; Nikishina, Vera A VA; Goltsov, Andrey Y AY; Gusev, Fedor F; Andreeva, Tatiana V TV; Nelson, Omar O; Bezprozvanny, Ilya I; Rogaev, Evgeny I EI
Publication Date: 2017-10-10

Variant appearance in text: PSEN1: G382A
PubMed Link: 29137240
Variant Present in the following documents:
  • Main text
  • oncotarget-08-82006-s001.pdf
  • oncotarget-08-82006.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: G382A
PubMed Link: 21357415
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure of the catalytic pore of gamma-secretase probed by the accessibility of substituted cysteines.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Sato, Chihiro C; Morohashi, Yuichi Y; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2006-11-15

Variant appearance in text: PS1: G382A
PubMed Link: 17108181
Variant Present in the following documents:
  • Main text
View BVdb publication page