Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.T99A
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PSEN1

NM_000021.4:p.T99A

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 › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.pdf

Inhibition of the dopamine transporter promotes lysosome biogenesis and ameliorates Alzheimer's disease-like symptoms in mice.

Yin L et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023

A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.

Bagyinszky E et al.

Brain Sciences, 2021

Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Hsu S et al.

Neurobiology of Disease, 2020

Fluid Biomarkers and APOE Status of Early Onset Alzheimer's Disease Variants: A Systematic Review and Meta-Analysis.

Kaur G et al.

Journal of Alzheimer's Disease : Jad, 2020

32333592 (PubMed )
Supplement: sj-xlsx-1-alz-10.3233_jad-200052.xlsx › Supplementary_Table_2

Genetic Markers of Alzheimer's Disease.

Nikolac Perkovic M et al.

Advances in Experimental Medicine and Biology, 2019

Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease.

Tang N et al.

Journal of Alzheimer's Disease : Jad, 2018

30412504 (PubMed )
Supplement: sj-docx-1-alz-10.3233_jad-180829.docx

Cerebrospinal fluid levels of phosphorylated tau and Aβ1-38/Aβ1-40/Aβ1-42 in Alzheimer's disease with PS1 mutations.

Ikeda M et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2013

Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.

Larner AJ

Journal of Alzheimer's Disease : Jad, 2013

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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."