Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.E693G
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APP

NM_000484.4:p.E693G

Associated Papers

γ-Secretase exosites as targets for substrate-selective lowering of Aβ generation.

Maruyama R et al.

Structure (london, England : 1993), 2026

Early functional changes and plasma GFAP in Swedish families with Autosomal Dominant Alzheimer's disease mutations.

Luckett ES et al.

Translational Psychiatry, 2026

Lysosomal protease-mediated APP degradation is pH-dependent, mutation-sensitive, and facilitates tau proteolysis.

Ackley C et al.

Molecular Neurodegeneration Advances, 2026

The Vitamin D Receptor Ortholog Hr96 Modulates Neuronal and Mitochondrial Dynamics in a Drosophila Model of Alzheimer's Disease.

Rucatti GG et al.

Molecular Neurobiology, 2025

Phenotypic variability in early-onset dementia segregating with a novel APP (p.I718M) variant.

Johansson C et al.

Alzheimer's Research & Therapy, 2025

Comparison of the ApoE allelic variants in the formation of intracerebral Aβ deposits.

Xu G et al.

Neurobiology of Disease, 2025

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

High-affinity transferrin receptor binding improves brain delivery of bispecific antibodies at tracer dose.

Bonvicini G et al.

Fluids and Barriers of the Cns, 2025

Somatostatin therapy, neprilysin activation, and amyloid beta reduction: A novel approach for Alzheimer's treatment.

Metzendorf NG et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025

Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.

Podleśny-Drabiniok A et al.

Cell Reports, 2025

40570367 (PubMed )
Supplement: NIHMS2099510-supplement-6.xlsx › VSQR_THP-1

Alzheimer's disease basics: we all should know.

Das S

Neurological Research, 2025

Lysosomal Protease-Mediated APP Degradation is pH-Dependent, Mutation-Sensitive, and Facilitates Tau Proteolysis.

Ackley C et al.

Research Square, 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

The UNC5C T835M mutation associated with Alzheimer's disease leads to neurodegeneration involving oxidative stress and hippocampal atrophy in aged mice.

Karunakaran DKP et al.

Molecular Neurodegeneration, 2025

Vascular models of Alzheimer's disease: An overview of recent in vitro models of the blood-brain barrier.

Takeuchi LE et al.

Neurobiology of Disease, 2025

A Novel APP Knock-In Mouse Model to Study the Protective Effects of the Icelandic Mutation In Vivo.

Valle ML

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025

Endogenously generated Dutch-type Aβ nonfibrillar aggregates dysregulate presynaptic neurotransmission in the absence of detectable inflammation.

Castranio EL et al.

Biorxiv : the Preprint Server for Biology, 2025

Longitudinal characterization reveals behavioral impairments in aged APP knock in mouse models.

Blackmer-Raynolds L et al.

Scientific Reports, 2025

Selective association of EEG microstates with clinical symptoms and mutation status in monogenic Alzheimer disease.

Johansson C et al.

Neuroimage. Clinical, 2025

An unexpected discovery of a novel potentially pathogenic APP gene variant: a case report of slowly progressive Alzheimer's disease with prominent cerebral amyloid angiopathy.

Sykora M et al.

Frontiers in Neuroscience, 2025

The Icelandic Mutation (APP-A673T) Is Protective against Amyloid Pathology In Vivo.

Shimohama S et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2024

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

Human-mouse proteomics reveals the shared pathways in Alzheimer's disease and delayed protein turnover in the amyloidome.

Yarbro JM et al.

Biorxiv : the Preprint Server for Biology, 2024

Gene-variant specific effects of plasma amyloid-β levels in Swedish autosomal dominant Alzheimer disease.

Johansson C et al.

Alzheimer's Research & Therapy, 2024

Microglia Gravitate toward Amyloid Plaques Surrounded by Externalized Phosphatidylserine via TREM2.

Park JC et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024

Exploring the complexity of amyloid-beta fibrils: structural polymorphisms and molecular interactions.

Baek Y et al.

Biochemical Society Transactions, 2024

E22G Aβ40 fibril structure and kinetics illuminate how Aβ40 rather than Aβ42 triggers familial Alzheimer's.

Tehrani MJ et al.

Nature Communications, 2024

39147751 (PubMed )
Supplement: 41467_2024_51294_MOESM1_ESM.pdf

Complement C3aR signaling: Immune and metabolic modulation and its impact on Alzheimer's disease.

Gedam M et al.

European Journal of Immunology, 2024

Apolipoprotein E polymorphisms and female fertility in a transgenic mouse model of Alzheimer's disease.

Medegan Fagla B et al.

Scientific Reports, 2024

Neuronal glutathione depletion elevates the Aβ42/Aβ40 ratio and tau aggregation in Alzheimer's disease mice.

Hashim KNB et al.

Febs Letters, 2024

The Role of RIN3 Gene in Alzheimer's Disease Pathogenesis: a Comprehensive Review.

Meshref M et al.

Molecular Neurobiology, 2024

Modeling neurodegenerative and neurodevelopmental disorders in the Drosophila mushroom body.

Stahl A et al.

Learning & Memory (cold Spring Harbor, N.y.), 2024

Altered amyloid-β structure markedly reduces gliosis in the brain of mice harboring the Uppsala APP deletion.

Pagnon de la Vega M et al.

Acta Neuropathologica Communications, 2024

Case of Autosomal Dominant Alzheimer Disease With Negative Findings From PiB-PET Examination.

Sun H et al.

Neurology. Genetics, 2024

Temporal Alterations in White Matter in An App Knock-In Mouse Model of Alzheimer's Disease.

Morrissey ZD et al.

Eneuro, 2024

Chronic administration of XBD173 ameliorates cognitive deficits and neuropathology via 18 kDa translocator protein (TSPO) in a mouse model of Alzheimer's disease.

Pradhan AK et al.

Translational Psychiatry, 2023

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

Maisam M et al.

Frontiers in Bioscience (landmark Edition), 2023

The autophagy protein Def8 is altered in Alzheimer's disease and Aβ42-expressing Drosophila brains.

Oyarce-Pezoa S et al.

Scientific Reports, 2023

Clinical considerations in early-onset cerebral amyloid angiopathy.

Banerjee G et al.

Brain : a Journal of Neurology, 2023

Alzheimer risk-increasing TREM2 variant causes aberrant cortical synapse density and promotes network hyperexcitability in mouse models.

Das M et al.

Neurobiology of Disease, 2023

Interaction of Proteins Involved in Neuronal Proteinopathies.

Kulichikhin KY et al.

Life (basel, Switzerland), 2023

Tracking reactive astrogliosis in autosomal dominant and sporadic Alzheimer's disease with multi-modal PET and plasma GFAP.

Chiotis K et al.

Molecular Neurodegeneration, 2023

Molecular pathology of neurodegenerative diseases by cryo-EM of amyloids.

Scheres SHW et al.

Nature, 2023

Mitochondrial hypermetabolism precedes impaired autophagy and synaptic disorganization in App knock-in Alzheimer mouse models.

Naia L et al.

Molecular Psychiatry, 2023

Investigational treatments for neurodegenerative diseases caused by inheritance of gene mutations: lessons from recent clinical trials.

Imbimbo BP et al.

Neural Regeneration Research, 2023

Deletion of SERF2 in mice delays embryonic development and alters amyloid deposit structure in the brain.

Stroo E et al.

Life Science Alliance, 2023

Differential effects of familial Alzheimer's disease-causing mutations on amyloid precursor protein (APP) trafficking, proteolytic conversion, and synaptogenic activity.

Schilling S et al.

Acta Neuropathologica Communications, 2023

1–50 of 298 papers
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