PSEN1 c.721C>A ;(p.L241I)

Variant ID: 14-73659524-C-A

NM_000021.3(PSEN1):c.721C>A;(p.L241I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Patient-derived xenografts and organoids model therapy response in prostate cancer.

Nature Communications
Karkampouna, Sofia S; La Manna, Federico F; Benjak, Andrej A; Kiener, Mirjam M; De Menna, Marta M; Zoni, Eugenio E; Grosjean, Joël J; Klima, Irena I; Garofoli, Andrea A; Bolis, Marco M; Vallerga, Arianna A; Theurillat, Jean-Philippe JP; De Filippo, Maria R MR; Genitsch, Vera V; Keller, David D; Booij, Tijmen H TH; Stirnimann, Christian U CU; Eng, Kenneth K; Sboner, Andrea A; Ng, Charlotte K Y CKY; Piscuoglio, Salvatore S; Gray, Peter C PC; Spahn, Martin M; Rubin, Mark A MA; Thalmann, George N GN; Kruithof-de Julio, Marianna M
Publication Date: 2021-02-18

Variant appearance in text: PSEN1: Leu241Ile
PubMed Link: 33602919
Variant Present in the following documents:
  • 41467_2021_21300_MOESM5_ESM.xlsx, sheet 3
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: L241I
PubMed Link: 33571524
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Nicastrin is dispensable for gamma-secretase protease activity in the presence of specific presenilin mutations.

The Journal Of Biological Chemistry
Futai, Eugene E; Yagishita, Sosuke S; Ishiura, Shoichi S
Publication Date: 2009-05-08

Variant appearance in text: PS1: L241I
PubMed Link: 19254953
Variant Present in the following documents:
  • 13013.pdf
View BVdb publication page