Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I180F
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PSEN1

NM_000021.4:p.I180F

Associated Papers

Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.

Fernández SG et al.

Molecular Neurodegeneration, 2025

40281586 (PubMed )
Supplement: 13024_2025_832_MOESM1_ESM.docx

Sequence of decline on the NIH-toolbox cognitive battery in a predominantly Latino sample with autosomal dominant Alzheimer's disease.

Petkus AJ et al.

Journal of Alzheimer's Disease : Jad, 2025

The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.

Liu L et al.

Biorxiv : the Preprint Server for Biology, 2024

Age of onset predicted by Aβ profiling in a novel PSEN1 (I180F) mutation.

Robbie L et al.

Neuroscience Letters, 2024

Enzyme-substrate interface targeting by imidazole-based γ-secretase modulators activates γ-secretase and stabilizes its interaction with APP.

Petit D et al.

The Embo Journal, 2022

36121025 (PubMed )
Supplement: EMBJ-41-e111084-s001.pdf

Locus coeruleus integrity is related to tau burden and memory loss in autosomal-dominant Alzheimer's disease.

Dahl MJ et al.

Neurobiology of Aging, 2022

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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."