Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.D257E
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PSEN1

NM_000021.4:p.D257E

Associated Papers

Rare A360T Mutation Alters GSK3β(Ser9) Binding in the Cytosolic Loop of Presenilin 1, Influencing β-Catenin Nuclear Localization and Pro-Death Gene Expression in Alzheimer's Disease Case.

Wężyk M et al.

International Journal of Molecular Sciences, 2023

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

Conserved residues within the putative active site of gamma-secretase differentially influence enzyme activity and inhibitor binding.

Wrigley JD et al.

Journal of Neurochemistry, 2004

Presenilin mutations associated with fronto-temporal dementia.

Hutton M

Annals of Neurology, 2004

Presenilin 1 regulates beta-catenin-mediated transcription in a glycogen synthase kinase-3-independent fashion.

Palacino JJ et al.

The Journal of Biological Chemistry, 2001

Presenilin 1 regulates pharmacologically distinct gamma -secretase activities. Implications for the role of presenilin in gamma -secretase cleavage.

Murphy MP et al.

The Journal of Biological Chemistry, 2000

Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity.

Wolfe MS et al.

Nature, 1999

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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."