Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.V261I
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PSEN1

NM_000021.4:p.V261I

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

Cryo-EM structures of cotton wool plaques' amyloid β and of tau filaments in dominantly inherited Alzheimer disease.

Hoq MR et al.

Acta Neuropathologica, 2024

11C-PiB PET can underestimate brain amyloid-β burden when cotton wool plaques are numerous.

Abrahamson EE et al.

Brain : a Journal of Neurology, 2022

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

Acosta-Uribe J et al.

Genome Medicine, 2022

A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.

Yu AC et al.

Frontiers in Neuroscience, 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

Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Ringman JM et al.

Current Neurology and Neuroscience Reports, 2014

Abstracts of the IX Congresso Sindem: Italian Association for the study of Dementia linked to the Italian Neurological Society (SIN), March 13-15, 2014, Florence, Italy.

Bonavita V et al.

Journal of Alzheimer's Disease : Jad, 2014

Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations.

Maarouf CL et al.

Molecular Neurodegeneration, 2008

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.

Dumanchin C et al.

Human Mutation, 2006

Amino-terminally truncated Abeta peptide species are the main component of cotton wool plaques.

Miravalle L et al.

Biochemistry, 2005

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