PSEN1 c.1298C>T ;(p.P433L)

Variant ID: 14-73685891-C-T

NM_000021.3(PSEN1):c.1298C>T;(p.P433L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: PSEN1: P433L
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
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: P433L
PubMed Link: 29137240
Variant Present in the following documents:
  • Main text
  • oncotarget-08-82006-s001.pdf
  • oncotarget-08-82006.pdf
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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: P433L
PubMed Link: 21531718
Variant Present in the following documents:
  • Main text
View BVdb publication page



A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.

The Journal Of Biological Chemistry
Heilig, Elizabeth A EA; Xia, Weiming W; Shen, Jie J; Kelleher, Raymond J RJ
Publication Date: 2010-07-16

Variant appearance in text: PS1: P433L
PubMed Link: 20460383
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: P433L
PubMed Link: 19415127
Variant Present in the following documents:
  • Main text
  • CG-8-531.pdf
View BVdb publication page



Assembly, maturation, and trafficking of the gamma-secretase complex in Alzheimer's disease.

Current Alzheimer Research
Dries, Daniel R DR; Yu, Gang G
Publication Date: 2008-04

Variant appearance in text: PS1: P433L
PubMed Link: 18393798
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regulated intramembrane proteolysis of amyloid precursor protein and regulation of expression of putative target genes.

Embo Reports
Hébert, Sébastien S SS; Serneels, Lutgarde L; Tolia, Alexandra A; Craessaerts, Katleen K; Derks, Carmen C; Filippov, Mikhail A MA; Müller, Ulrike U; De Strooper, Bart B
Publication Date: 2006-07

Variant appearance in text: PS1: P433L
PubMed Link: 16729020
Variant Present in the following documents:
  • Main text
View BVdb publication page