Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I416T
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PSEN1

NM_000021.4:p.I416T

Associated Papers

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

PF-06447475 Molecule Attenuates the Neuropathology of Familial Alzheimer's and Coexistent Parkinson's Disease Markers in PSEN1 I416T Dopaminergic-like Neurons.

Quintero-Espinosa DA et al.

Molecules (basel, Switzerland), 2025

Cholinergic-like neurons and cerebral spheroids bearing the PSEN1 p.Ile416Thr variant mirror Alzheimer's disease neuropathology.

Gomez-Sequeda N et al.

Scientific Reports, 2023

A global view of the genetic basis of Alzheimer disease.

Reitz C et al.

Nature Reviews. Neurology, 2023

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Acosta-Uribe J et al.

Genome Medicine, 2022

Screening for Genetic Mutations Associated with Early-Onset Alzheimer's Disease in Han Chinese.

Liu C et al.

Current Alzheimer Research, 2022

How understudied populations have contributed to our understanding of Alzheimer's disease genetics.

Dehghani N et al.

Brain : a Journal of Neurology, 2021

Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.

Llibre-Guerra JJ et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021

Transcriptomics in Alzheimer's Disease: Aspects and Challenges.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2020

Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr).

Ramirez Aguilar L et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2019

Genetics of dementia: insights from Latin America.

Ramos C et al.

Dementia & Neuropsychologia, 0

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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."