Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L435R
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PSEN1

NM_000021.4:p.L435R

Associated Papers

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

Heilig EA et al.

The Journal of Biological Chemistry, 2010

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

Fraering PC

Current Genomics, 2007

C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation.

Wang J et al.

Journal of Neurochemistry, 2006

Random mutagenesis of presenilin-1 identifies novel mutants exclusively generating long amyloid beta-peptides.

Nakaya Y et al.

The Journal of Biological Chemistry, 2005

Conserved "PAL" sequence in presenilins is essential for gamma-secretase activity, but not required for formation or stabilization of gamma-secretase complexes.

Wang J et al.

Neurobiology of Disease, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."