Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L286R
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PSEN1

NM_000021.4:p.L286R

Associated Papers

Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.

Larner AJ

Journal of Alzheimer's Disease : Jad, 2013

Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.

Larner AJ et al.

Journal of Alzheimer's Disease : Jad, 2009

Familial Alzheimer disease-linked presenilin 1 variants enhance production of both Abeta 1-40 and Abeta 1-42 peptides that are only partially sensitive to a potent aspartyl protease transition state inhibitor of "gamma-secretase".

Ikeuchi T et al.

The Journal of Biological Chemistry, 2003

Gamma-secretase inhibitors and Alzheimer's disease.

Roberts SB

Advanced Drug Delivery Reviews, 2002

Cell-free generation of the notch1 intracellular domain (NICD) and APP-CTfgamma: evidence for distinct intramembranous "gamma-secretase" activities.

Ikeuchi T et al.

Neuromolecular Medicine, 2002

Characterization of a presenilin-mediated amyloid precursor protein carboxyl-terminal fragment gamma. Evidence for distinct mechanisms involved in gamma -secretase processing of the APP and Notch1 transmembrane domains.

Yu C et al.

The Journal of Biological Chemistry, 2001

Genetic markers in the diagnosis of Alzheimer's disease.

Rogaeva E et al.

Journal of Alzheimer's Disease : Jad, 2001

Separation of presenilin function in amyloid beta-peptide generation and endoproteolysis of Notch.

Kulic L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2000

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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."