Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.K115fs
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PSEN2

NM_000447.3:p.K115fs

Associated Papers

Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.

Course MM et al.

Brain : a Journal of Neurology, 2023

Brain transcriptomes of zebrafish and mouse Alzheimer's disease knock-in models imply early disrupted energy metabolism.

Barthelson K et al.

Disease Models & Mechanisms, 2022

Brain Transcriptome Analysis of a Protein-Truncating Mutation in Sortilin-Related Receptor 1 Associated With Early-Onset Familial Alzheimer's Disease Indicates Early Effects on Mitochondrial and Ribosome Function.

Barthelson K et al.

Journal of Alzheimer's Disease : Jad, 2021

PRESENILIN 1 Mutations Causing Early-Onset Familial Alzheimer's Disease or Familial Acne Inversa Differ in Their Effects on Genes Facilitating Energy Metabolism and Signal Transduction.

Barthelson K et al.

Journal of Alzheimer's Disease : Jad, 2021

Accelerated loss of hypoxia response in zebrafish with familial Alzheimer's disease-like mutation of presenilin 1.

Newman M et al.

Human Molecular Genetics, 2020

Accelerated brain aging towards transcriptional inversion in a zebrafish model of the K115fs mutation of human PSEN2.

Hin N et al.

Plos One, 2020

Brain transcriptome analysis of a familial Alzheimer's disease-like mutation in the zebrafish presenilin 1 gene implies effects on energy production.

Newman M et al.

Molecular Brain, 2019

Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.

Braggin JE et al.

Annals of Clinical and Translational Neurology, 2019

A Review of the Familial Alzheimer's Disease Locus PRESENILIN 2 and Its Relationship to PRESENILIN 1.

Jiang H et al.

Journal of Alzheimer's Disease : Jad, 2018

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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."