Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G382A
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PSEN1

NM_000021.4:p.G382A

Associated Papers

Effects of presenilin-1 familial Alzheimer's disease mutations on γ-secretase activation for cleavage of amyloid precursor protein.

Do HN et al.

Communications Biology, 2023

Aβ43-producing PS1 FAD mutants cause altered substrate interactions and respond to γ-secretase modulation.

Trambauer J et al.

Embo Reports, 2020

31762188 (PubMed )
Supplement: EMBR-21-e47996-s001.pdf

Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.

Grigorenko AP et al.

Oncotarget, 2017

Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.

Kretner B et al.

The Journal of Biological Chemistry, 2011

Requirement for small side chain residues within the GxGD-motif of presenilin for gamma-secretase substrate cleavage.

Pérez-Revuelta BI et al.

Journal of Neurochemistry, 2010

Structure of the catalytic pore of gamma-secretase probed by the accessibility of substituted cysteines.

Sato C et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006

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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."