Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L435H
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PSEN1

NM_000021.4:p.L435H

Associated Papers

Generation and deposition of Aβ43 by the virtually inactive presenilin-1 L435F mutant contradicts the presenilin loss-of-function hypothesis of Alzheimer's disease.

Kretner B et al.

Embo Molecular Medicine, 2016

Differential regulation of amyloid precursor protein/presenilin 1 interaction during Aβ40/42 [corrected] production detected using fusion constructs.

Sato N et al.

Plos One, 2012

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

Nakaya Y et al.

The Journal of Biological Chemistry, 2005

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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."