Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.D336A
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NCSTN

NM_015331.3:p.D336A

Associated Papers

p53-dependent control of cell death by nicastrin: lack of requirement for presenilin-dependent gamma-secretase complex.

Pardossi-Piquard R et al.

Journal of Neurochemistry, 2009

A novel alternative splice variant of nicastrin and its implication in Alzheimer disease.

Mitsuda N et al.

Life Sciences, 2006

Nicastrin functions as a gamma-secretase-substrate receptor.

Shah S et al.

Cell, 2005

Immature nicastrin stabilizes APH-1 independent of PEN-2 and presenilin: identification of nicastrin mutants that selectively interact with APH-1.

Shirotani K et al.

Journal of Neurochemistry, 2004

The transmembrane domain region of nicastrin mediates direct interactions with APH-1 and the gamma-secretase complex.

Morais VA et al.

The Journal of Biological Chemistry, 2003

Positive and negative regulation of the gamma-secretase activity by nicastrin in a murine model.

Li J et al.

The Journal of Biological Chemistry, 2003

Overexpression of nicastrin increases Abeta production.

Murphy MP et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2003

Mature glycosylation and trafficking of nicastrin modulate its binding to presenilins.

Yang DS et al.

The Journal of Biological Chemistry, 2002

Nicastrin is required for gamma-secretase cleavage of the Drosophila Notch receptor.

Hu Y et al.

Developmental Cell, 2002

Nicastrin binds to membrane-tethered Notch.

Chen F et al.

Nature Cell Biology, 2001

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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."