Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.K687N
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APP

NM_000484.4:p.K687N

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

Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease.

Liang Z et al.

Frontiers in Neurology, 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

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

Chávez-Gutiérrez L et al.

Seminars in Cell & Developmental Biology, 2020

The Genetics of Alzheimer's Disease in the Chinese Population.

Gan CL et al.

International Journal of Molecular Sciences, 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

Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Park JS et al.

Nature Communications, 2019

31300647 (PubMed )
Supplement: 41467_2019_11000_MOESM14_ESM.xlsx › Supplementary_Data_11-4_APP

The vexing complexity of the amyloidogenic pathway.

Castro MA et al.

Protein Science : a Publication of the Protein Society, 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

The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia.

Xu Y et al.

Aging and Disease, 2018

Dysregulation of Neuronal Iron Homeostasis as an Alternative Unifying Effect of Mutations Causing Familial Alzheimer's Disease.

Lumsden AL et al.

Frontiers in Neuroscience, 2018

Genomics of Alzheimer Disease: A Review.

Rosenberg RN et al.

Jama Neurology, 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

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

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

Novel APP K724M mutation causes Chinese early-onset familial Alzheimer's disease and increases amyloid-β42 to amyloid-β40 ratio.

Peng XL et al.

Neurobiology of Aging, 2014

Hereditary and sporadic beta-amyloidoses.

Di Fede G et al.

Frontiers in Bioscience (landmark Edition), 2013

Novel APP/Aβ mutation K16N produces highly toxic heteromeric Aβ oligomers.

Kaden D et al.

Embo Molecular Medicine, 2012

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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."