Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.E693K
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APP

NM_000484.4:p.E693K

Associated Papers

Gene Panel Approach to Screen for Hereditary Cerebral Small Vessel Disease: A Proof-of-Concept Study.

Ferraro C et al.

Genes, 2026

Cryo-EM studies of amyloid-β fibrils from human and murine brains carrying the Uppsala APP mutation (Δ690-695).

Zielinski M et al.

Acta Neuropathologica Communications, 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 › 2-Supplemental_Table1_AR_20250121_JLliF.pdf

Genetics of intracerebral hemorrhage.

Kimball TN et al.

Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2025

Biological function of Aβ peptides revealed by analysis of membrane-association properties: Implications for Azheimer's disease pathogenesis.

Kim M et al.

Biochemical and Biophysical Research Communications, 2024

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

Maisam M et al.

Frontiers in Bioscience (landmark Edition), 2023

Clinical considerations in early-onset cerebral amyloid angiopathy.

Banerjee G et al.

Brain : a Journal of Neurology, 2023

Interaction of Proteins Involved in Neuronal Proteinopathies.

Kulichikhin KY et al.

Life (basel, Switzerland), 2023

Differential and substrate-specific inhibition of γ-secretase by the C-terminal region of ApoE2, ApoE3, and ApoE4.

Hou X et al.

Neuron, 2023

Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.

Schuermans N et al.

Neurology. Genetics, 2023

Cryo-EM structures of amyloid-β filaments with the Arctic mutation (E22G) from human and mouse brains.

Yang Y et al.

Acta Neuropathologica, 2023

Intervention of next-generation sequencing in diagnosis of Alzheimer's disease: challenges and future prospects.

Chandy T

Dementia & Neuropsychologia, 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

Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.

Bruno F et al.

Biomedicines, 2022

Genetic characteristics of Chinese patients with hemorrhagic cerebrovascular disease.

Zhu H et al.

Neuro Endocrinology Letters, 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

Main features of hereditary cerebral amyloid angiopathies: A systematic review.

Biffi A

Cerebral Circulation - Cognition and Behavior, 2022

Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

Kalaria RN et al.

The American Journal of Pathology, 2021

The Clinical and Neuropathological Features of Sporadic (Late-Onset) and Genetic Forms of Alzheimer's Disease.

Rujeedawa T et al.

Journal of Clinical Medicine, 2021

The Uppsala APP deletion causes early onset autosomal dominant Alzheimer's disease by altering APP processing and increasing amyloid β fibril formation.

Pagnon de la Vega M et al.

Science Translational Medicine, 2021

An APP mutation family exhibiting white matter hyperintensities and cortical calcification in East China.

Yi Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

Late-onset vs nonmendelian early-onset Alzheimer disease: A distinction without a difference?

Reitz C et al.

Neurology. Genetics, 2020

Familial Alzheimer's disease mutations at position 22 of the amyloid β-peptide sequence differentially affect synaptic loss, tau phosphorylation and neuronal cell death in an ex vivo system.

Tackenberg C et al.

Plos One, 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

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

Chang KH et al.

Molecular Neurobiology, 2019

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

Cerebrovascular disorders associated with genetic lesions.

Karschnia P et al.

Cellular and Molecular Life Sciences : Cmls, 2019

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

Dai MH et al.

Oncotarget, 2018

Clinical aspects and biomarkers of Alzheimer's disease in Down syndrome.

Zis P et al.

Free Radical Biology & Medicine, 2018

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

Monoaminergic neuropathology in Alzheimer's disease.

Šimić G et al.

Progress in Neurobiology, 2017

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Lanoiselée HM et al.

Plos Medicine, 2017

APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review.

Sellal F et al.

Journal of Alzheimer's Disease : Jad, 2017

Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms.

Sun Q et al.

Frontiers in Molecular Neuroscience, 2017

Genomics of Alzheimer Disease: A Review.

Rosenberg RN et al.

Jama Neurology, 2016

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

Bersano A et al.

Stroke, 2016

Tau Protein Hyperphosphorylation and Aggregation in Alzheimer's Disease and Other Tauopathies, and Possible Neuroprotective Strategies.

Šimić G et al.

Biomolecules, 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

Vascular cognitive impairment, dementia, aging and energy demand. A vicious cycle.

Popa-Wagner A et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2015

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

Thal DR et al.

Acta Neuropathologica, 2015

Alternative salt bridge formation in Aβ-a hallmark of early-onset Alzheimer's disease?

Schledorn M et al.

Frontiers in Molecular Biosciences, 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

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