Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G217R
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PSEN1

NM_000021.4:p.G217R

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

Autosomal Dominant Alzheimer's Disease Mutations in Human Microglia Are Not Sufficient to Trigger Amyloid Pathology in WT Mice but Might Affect Pathology in 5XFAD Mice.

Romero-Molina C et al.

International Journal of Molecular Sciences, 2024

Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.

Novotny BC et al.

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

36251323 (PubMed )
Supplement: NIHMS1865189-supplement-SUPPORTING_INFORMATION_3.xlsx › Table_S1

Identification of the Aβ37/42 peptide ratio in CSF as an improved Aβ biomarker for Alzheimer's disease.

Liu L et al.

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

Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

Bagaria J et al.

International Journal of Molecular Sciences, 2022

Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.

Willumsen N et al.

Brain Pathology (zurich, Switzerland), 2022

Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer's disease with cotton wool plaques due to a novel presenilin1 G417S mutation.

Miki T et al.

Acta Neuropathologica Communications, 2019

Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.

Jiang S et al.

Translational Psychiatry, 2018

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

Karch CM et al.

Alzheimer's Research & Therapy, 2018

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

Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Ringman JM et al.

Current Neurology and Neuroscience Reports, 2014

The genetics of Alzheimer's disease.

Bagyinszky E et al.

Clinical Interventions in Aging, 2014

Increased in vivo amyloid-β42 production, exchange, and loss in presenilin mutation carriers.

Potter R et al.

Science Translational Medicine, 2013

Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques.

Norton JB et al.

Neurology, 2009

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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."