PSEN1 c.1153_1154delinsTG ;(p.D385C)

Variant ID: 14-73683857-GA-TG

NM_000021.3(PSEN1):c.1153_1154delinsTG;(p.D385C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Mutagenesis mapping of the presenilin 1 calcium leak conductance pore.

The Journal Of Biological Chemistry
Nelson, Omar O; Supnet, Charlene C; Tolia, Alexandra A; Horré, Katrien K; De Strooper, Bart B; Bezprozvanny, Ilya I
Publication Date: 2011-06-24

Variant appearance in text: PS1: D385C
PubMed Link: 21531718
Variant Present in the following documents:
  • Main text
View BVdb publication page



Presenilin-1 acts via Id1 to regulate the function of muscle satellite cells in a gamma-secretase-independent manner.

Journal Of Cell Science
Ono, Yusuke Y; Gnocchi, Viola F VF; Zammit, Peter S PS; Nagatomi, Ryoichi R
Publication Date: 2009-12-15

Variant appearance in text: PS1: D385C
PubMed Link: 19920078
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural and Functional Determinants of gamma-Secretase, an Intramembrane Protease Implicated in Alzheimer's Disease.

Current Genomics
Fraering, Patrick C PC
Publication Date: 2007-12

Variant appearance in text: PS1: D385C
PubMed Link: 19415127
Variant Present in the following documents:
  • Main text
  • CG-8-531.pdf
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: D385C
PubMed Link: 17108181
Variant Present in the following documents:
  • Main text
View BVdb publication page