Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.E693del1
Back to variants list

APP

NM_000484.4:p.E693del1

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

Alzheimer's Disease; Mechanism, Mutations, and Applications of Nano-Medicine.

Maisam M et al.

Frontiers in Bioscience (landmark Edition), 2023

High Soluble Amyloid-β42 Predicts Normal Cognition in Amyloid-Positive Individuals with Alzheimer's Disease-Causing Mutations.

Sturchio A et al.

Journal of Alzheimer's Disease : Jad, 2022

Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.

Liu Y et al.

Frontiers in Aging 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

New Insights into the Molecular Bases of Familial Alzheimer's Disease.

D'Argenio V et al.

Journal of Personalized Medicine, 2020

Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.

Senanarong V et al.

Diagnostics (basel, Switzerland), 2020

The protective mutation A673T in amyloid precursor protein gene decreases Aβ peptides production for 14 forms of Familial Alzheimer's Disease in SH-SY5Y cells.

Guyon A et al.

Plos One, 2020

APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

Giau VV et al.

International Journal of Molecular Sciences, 2019

Modeling Alzheimer's Disease by Induced Pluripotent Stem Cells Carrying APP D678H Mutation.

Chang KH et al.

Molecular Neurobiology, 2019

Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Bi C et al.

Aging and Disease, 2019

Opportunities and challenges for the use of induced pluripotent stem cells in modelling neurodegenerative disease.

Wu YY et al.

Open Biology, 2019

Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease.

Mastromoro G et al.

Neuro-degenerative Diseases, 2019

Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.

Van Giau V et al.

Neuropsychiatric Disease and Treatment, 2018

Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease.

Tcw J et al.

Cold Spring Harbor Perspectives in Medicine, 2017

Low Florbetapir PET Uptake and Normal Aβ1-42 Cerebrospinal Fluid in an APP Ala713Thr Mutation Carrier.

Lombardi G et al.

Journal of Alzheimer's Disease : Jad, 2017

Alzheimer's disease-associated mutations increase amyloid precursor protein resistance to γ-secretase cleavage and the Aβ42/Aβ40 ratio.

Xu TH et al.

Cell Discovery, 2016

27625790 (PubMed )
Supplement: celldisc201626-s1.pdf

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

Bagyinszky E et al.

Clinical Interventions in Aging, 2016

Neuropathology and biochemistry of Aβ and its aggregates in Alzheimer's disease.

Thal DR et al.

Acta Neuropathologica, 2015

A second pedigree with amyloid-less familial Alzheimer's disease harboring an identical mutation in the amyloid precursor protein gene (E693delta).

Kutoku Y et al.

Internal Medicine (tokyo, Japan), 2015

Unfolded Protein Response and PERK Kinase as a New Therapeutic Target in the Pathogenesis of Alzheimer's Disease.

Rozpedek W et al.

Current Medicinal Chemistry, 2015

The genetics of Alzheimer's disease.

Bagyinszky E et al.

Clinical Interventions in Aging, 2014

Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type.

Kamp JA et al.

Reviews in the Neurosciences, 2014

Clinical genetics of Alzheimer's disease.

Zou Z et al.

Biomed Research International, 2014

[Alzheimer disease: autosomal dominant forms].

Guyant-Maréchal L et al.

Revue Neurologique, 2009

[Dominant forms of Alzheimer's disease: from genotype to phenotype].

Hannequin D et al.

Revue Neurologique, 2001

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."