Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L282F
Back to variants list

PSEN1

NM_000021.4:p.L282F

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

Presenilin Is Essential for ApoE Secretion, a Novel Role of Presenilin Involved in Alzheimer's Disease Pathogenesis.

Islam S et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2022

Induced pluripotent stem cells (iPSCs) as game-changing tools in the treatment of neurodegenerative disease: Mirage or reality?

Yousefi N et al.

Journal of Cellular Physiology, 2020

PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer's disease.

Kim YE et al.

Scientific Reports, 2020

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

Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1.

Poon A et al.

Stem Cell Research, 2016

Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Bagyinszky E et al.

Clinical Interventions in Aging, 2016

The genetics of Alzheimer's disease.

Bagyinszky E et al.

Clinical Interventions in Aging, 2014

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

Larner AJ

Journal of Alzheimer's Disease : Jad, 2013

A novel presenilin 1 mutation (L282F) in familial Alzheimer's disease.

Hamaguchi T et al.

Journal of Neurology, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."