Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.E693D
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APP

NM_000484.4:p.E693D

Associated Papers

Endogenously generated Dutch-type Aβ nonfibrillar aggregates dysregulate presynaptic neurotransmission in the absence of detectable inflammation.

Castranio EL et al.

Biorxiv : the Preprint Server for Biology, 2025

Insights into Human-Induced Pluripotent Stem Cell-Derived Astrocytes in Neurodegenerative Disorders.

Kumar M et al.

Biomolecules, 2022

Overview and Current Status of Alzheimer's Disease in Bangladesh.

Rahman MR et al.

Journal of Alzheimer's Disease Reports, 2017

Cholesterol impairment contributes to neuroserpin aggregation.

Giampietro C et al.

Scientific Reports, 2017

Common and Rare Genetic Variants Associated With Alzheimer's Disease.

Marei HE et al.

Journal of Cellular Physiology, 2016

Meta-Analysis of Transcriptome Data Related to Hippocampus Biopsies and iPSC-Derived Neuronal Cells from Alzheimer's Disease Patients Reveals an Association with FOXA1 and FOXA2 Gene Regulatory Networks.

Wruck W et al.

Journal of Alzheimer's Disease : Jad, 2016

Genetic diagnosis and prognosis of Alzheimer's disease: challenges and opportunities.

Reitz C

Expert Review of Molecular Diagnostics, 2015

Additional mechanisms conferring genetic susceptibility to Alzheimer's disease.

Calero M et al.

Frontiers in Cellular Neuroscience, 2015

The absence of ABCA1 decreases soluble ApoE levels but does not diminish amyloid deposition in two murine models of Alzheimer disease.

Hirsch-Reinshagen V et al.

The Journal of Biological Chemistry, 2005

Studies of the aggregation of mutant proteins in vitro provide insights into the genetics of amyloid diseases.

Chiti F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2002

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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."