PSEN1 c.334_336delinsTGT ;(p.Q112C)

Variant ID: 14-73637751-CAG-TGT

NM_000021.3(PSEN1):c.334_336delinsTGT;(p.Q112C)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Side-by-side comparison of Notch- and C83 binding to γ-secretase in a complete membrane model at physiological temperature.

Rsc Advances
Dehury, Budheswar B; Tang, Ning N; Mehra, Rukmankesh R; Blundell, Tom L TL; Kepp, Kasper P KP
Publication Date: 2020-08-21

Variant appearance in text: PS1: Q112C
PubMed Link: 35520661
Variant Present in the following documents:
  • Main text
  • RA-010-D0RA04683C.pdf
View BVdb publication page



Structural Studies Providing Insights into Production and Conformational Behavior of Amyloid-β Peptide Associated with Alzheimer's Disease Development.

Molecules (Basel, Switzerland)
Urban, Anatoly S AS; Pavlov, Konstantin V KV; Kamynina, Anna V AV; Okhrimenko, Ivan S IS; Arseniev, Alexander S AS; Bocharov, Eduard V EV
Publication Date: 2021-05-13

Variant appearance in text: PSEN1: Q112C
PubMed Link: 34068293
Variant Present in the following documents:
  • Main text
  • molecules-26-02897.pdf
View BVdb publication page



Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.

The Journal Of Biological Chemistry
Liu, Lei L; Lauro, Bianca M BM; Wolfe, Michael S MS; Selkoe, Dennis J DJ
Publication Date: 2021

Variant appearance in text: PS1: Q112C
PubMed Link: 33571524
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Mechanisms of γ-Secretase Activation and Substrate Processing.

Acs Central Science
Bhattarai, Apurba A; Devkota, Sujan S; Bhattarai, Sanjay S; Wolfe, Michael S MS; Miao, Yinglong Y
Publication Date: 2020-06-24

Variant appearance in text: PS1: Q112C
PubMed Link: 32607444
Variant Present in the following documents:
  • Main text
View BVdb publication page



Substrate-Enzyme Interactions in Intramembrane Proteolysis: γ-Secretase as the Prototype.

Frontiers In Molecular Neuroscience
Liu, Xinyue X; Zhao, Jing J; Zhang, Yingkai Y; Ubarretxena-Belandia, Iban I; Forth, Scott S; Lieberman, Raquel L RL; Wang, Chunyu C
Publication Date: 2020

Variant appearance in text: PS1: Q112C
PubMed Link: 32508589
Variant Present in the following documents:
  • Main text
  • fnmol-13-00065.pdf
View BVdb publication page



Extracellular interface between APP and Nicastrin regulates Aβ length and response to γ-secretase modulators.

The Embo Journal
Petit, Dieter D; Hitzenberger, Manuel M; Lismont, Sam S; Zoltowska, Katarzyna Marta KM; Ryan, Natalie S NS; Mercken, Marc M; Bischoff, François F; Zacharias, Martin M; Chávez-Gutiérrez, Lucía L
Publication Date: 2019-06-17

Variant appearance in text: PSEN1: Q112C
PubMed Link: 31109937
Variant Present in the following documents:
  • Main text
  • EMBJ-38-e101494.pdf
View BVdb publication page