Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.N135Y
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PSEN1

NM_000021.4:p.N135Y

Associated Papers

15 years of longitudinal genetic, clinical, cognitive, imaging, and biochemical measures in DIAN.

Daniels AJ et al.

Npj Dementia, 2026

41709913 (PubMed )
Supplement: 44400_2025_47_MOESM1_ESM.pdf

The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.

Liu H et al.

Brain : a Journal of Neurology, 2025

39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 2-Supplemental_Table1_AR_20250121_JLliF.pdf

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

Liu L et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

Kalaria RN et al.

The American Journal of Pathology, 2021

Identification of a novel PSEN1 Gly111Val missense mutation in a Chinese pedigree with early-onset Alzheimer's disease.

Qiu Q et al.

Neurobiology of Aging, 2020

Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Karch CM et al.

Alzheimer's Research & Therapy, 2018

Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.

Natelson Love M et al.

Neurobiology of Aging, 2017

Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Ringman JM et al.

Current Neurology and Neuroscience Reports, 2014

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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."