Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.Y288N
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PSEN1

NM_000021.4:p.Y288N

Associated Papers

Three-amino acid spacing of presenilin endoproteolysis suggests a general stepwise cleavage of gamma-secretase-mediated intramembrane proteolysis.

Fukumori A et al.

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

Presenilin-1 D257A and D385A mutants fail to cleave Notch in their endoproteolyzed forms, but only presenilin-1 D385A mutant can restore its gamma-secretase activity with the compensatory overexpression of normal C-terminal fragment.

Kim H et al.

The Journal of Biological Chemistry, 2005

Functional domains in presenilin 1: the Tyr-288 residue controls gamma-secretase activity and endoproteolysis.

Laudon H et al.

The Journal of Biological Chemistry, 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."