Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.E682K
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APP

NM_000484.4:p.E682K

Associated Papers

Amyloid precursor protein and C99 are subunits in human microglial Hv1 channels that enhance current and inflammatory mediator release.

Zhao R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

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

Generation of Alzheimer's Disease Model Derived from Induced Pluripotent Stem Cells with APP Gene Mutation.

Kim Y et al.

Biomedicines, 2024

Whole-exome sequencing detected a novel APP variant in a Han-Chinese family with Alzheimer's disease.

Zhaoxia W et al.

Molecular Biology Reports, 2023

An Alternative View of Familial Alzheimer's Disease Genetics.

Lardelli M

Journal of Alzheimer's Disease : Jad, 2023

Rare Amyloid Precursor Protein Point Mutations Recapitulate Worldwide Migration and Admixture in Healthy Individuals: Implications for the Study of Neurodegeneration.

Abondio P et al.

International Journal of Molecular Sciences, 2022

36555510 (PubMed )
Supplement: ijms-23-15871-s001.zip › ijms-2049902-supplementary.xlsx › S1

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

Can Anti-β-amyloid Monoclonal Antibodies Work in Autosomal Dominant Alzheimer Disease?

Imbimbo BP et al.

Neurology. Genetics, 2021

Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

Perrone F et al.

Alzheimer's Research & Therapy, 2020

32917274 (PubMed )
Supplement: 13195_2020_676_MOESM1_ESM.docx

Mechanisms of neurodegeneration - Insights from familial Alzheimer's disease.

Chávez-Gutiérrez L et al.

Seminars in Cell & Developmental Biology, 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

Mutations of beta-amyloid precursor protein alter the consequence of Alzheimer's disease pathogenesis.

Li NM et al.

Neural Regeneration Research, 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

Amyloid PET pattern with dementia and amyloid angiopathy in Taiwan familial AD with D678H APP mutation.

Huang CY et al.

Journal of the Neurological Sciences, 2019

Genetic Markers of Alzheimer's Disease.

Nikolac Perkovic M et al.

Advances in Experimental Medicine and Biology, 2019

The genes associated with early-onset Alzheimer's disease.

Dai MH et al.

Oncotarget, 2018

Untangling Genetic Risk for Alzheimer's Disease.

Pimenova AA et al.

Biological Psychiatry, 2018

Increased Foxo3a Nuclear Translocation and Activity is an Early Neuronal Response to βγ-Secretase-Mediated Processing of the Amyloid-β Protein Precursor: Utility of an AβPP-GAL4 Reporter Assay.

Law BM et al.

Journal of Alzheimer's Disease : Jad, 2018

BACE1 Cleavage Site Selection Critical for Amyloidogenesis and Alzheimer's Pathogenesis.

Zhang S et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017

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

Tcw J et al.

Cold Spring Harbor Perspectives in Medicine, 2017

Alternative Selection of β-Site APP-Cleaving Enzyme 1 (BACE1) Cleavage Sites in Amyloid β-Protein Precursor (APP) Harboring Protective and Pathogenic Mutations within the Aβ Sequence.

Kimura A et al.

The Journal of Biological Chemistry, 2016

Genomics of Alzheimer Disease: A Review.

Rosenberg RN et al.

Jama Neurology, 2016

β-Amyloid pathogenesis: Chemical properties versus cellular levels.

Tiwari MK et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2016

A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences.

Shea YF et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2016

Genes associated with Alzheimer's disease: an overview and current status.

Giri M et al.

Clinical Interventions in Aging, 2016

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

Direct Correlation of Cell Toxicity to Conformational Ensembles of Genetic Aβ Variants.

Somavarapu AK et al.

Acs Chemical Neuroscience, 2015

Two distinct β-sheet structures in Italian-mutant amyloid-beta fibrils: a potential link to different clinical phenotypes.

Hubin E et al.

Cellular and Molecular Life Sciences : Cmls, 2015

On the identification of low allele frequency mosaic mutations in the brains of Alzheimer's disease patients.

Sala Frigerio C et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2015

Cellular functions of the amyloid precursor protein from development to dementia.

van der Kant R et al.

Developmental Cell, 2015

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

Thal DR et al.

Acta Neuropathologica, 2015

Molecular mechanisms of Alzheimer disease protection by the A673T allele of amyloid precursor protein.

Maloney JA et al.

The Journal of Biological Chemistry, 2014

Specific antibody binding to the APP672-699 region shifts APP processing from α- to β-cleavage.

Li S et al.

Cell Death & Disease, 2014

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

Kamp JA et al.

Reviews in the Neurosciences, 2014

Amyloid-beta (Aβ) D7H mutation increases oligomeric Aβ42 and alters properties of Aβ-zinc/copper assemblies.

Chen WT et al.

Plos One, 2012

Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β'-site increases Aβ generation.

Zhou L et al.

Embo Molecular Medicine, 2011

Molecular genetics of Alzheimer's disease: an update.

Brouwers N et al.

Annals of Medicine, 2008

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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."