Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G78C
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PSEN1

NM_000021.4:p.G78C

Associated Papers

Activation of γ-Secretase Trimming Activity by Topological Changes of Transmembrane Domain 1 of Presenilin 1.

Cai T et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017

Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

Tominaga A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016

Inhibition of γ-secretase activity by a monoclonal antibody against the extracellular hydrophilic loop of presenilin 1.

Takagi-Niidome S et al.

Biochemistry, 2013

Participation of transmembrane domain 1 of presenilin 1 in the catalytic pore structure of the γ-secretase.

Takagi S et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010

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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."