Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.I716V
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APP

NM_000484.4:p.I716V

Associated Papers

Vascular smooth muscle cell loss, but not neuroinflammation, drives cerebrovascular reactivity impairment in Alzheimer's disease.

Yang X et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2026

The Icelandic Mutation in the Murine APP Gene, mAPPA673T, on Amyloid-β Plaque Burden in the 5×FAD Alzheimer Model.

Anschuetz A et al.

Journal of Integrative Neuroscience, 2026

Machine Learning-Enhanced Hyperspectral Raman Imaging for Label-Free Molecular Atlas of Alzheimer's Brain.

Wang Z et al.

Acs Applied Materials & Interfaces, 2026

NAD+ hydrolase Sarm1 is a key driver of synapse degeneration and memory loss in Alzheimer's disease.

Fan F et al.

Biorxiv : the Preprint Server for Biology, 2025

Systemic Piezo1 activation improves cerebrovascular function in Alzheimer's disease.

Tabrizi Z et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

Meningeal vascular Aβ deposition associates with cerebral hypoperfusion and compensatory collateral remodeling.

Kaloss AM et al.

Alzheimer's Research & Therapy, 2025

TSPO contributes to neuropathology and cognitive deficits in Alzheimer's disease.

Ceyzériat K et al.

Journal of Neuroinflammation, 2025

41152868 (PubMed )
Supplement: 12974_2025_3583_MOESM1_ESM.pdf

SIK2-mediated phosphorylation of GABARAPL2 facilitates autophagosome-lysosome fusion and rescues neurodegeneration in an Alzheimer's disease model.

Dai X et al.

Translational Neurodegeneration, 2025

Taurine suppresses Aβ aggregation and attenuates Alzheimer's disease pathologies in 5XFAD mice and patient-derived cerebral organoids.

Lee H et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025

Progressive Hippocampal Neuroarchitecture Changes in the 5×FAD Alzheimer's Disease Mouse Model.

Jang H et al.

Journal of Integrative Neuroscience, 2025

Modulation of Mitochondrial Dynamics in Primary Hippocampal Cultures of 5xFAD Mice by Mdivi-1, MFP, and Exogenous Zinc.

Chaplygina A et al.

Frontiers in Bioscience (landmark Edition), 2025

Poly(ADP-ribose) Polymerase 1 Deficiency Attenuates Amyloid Pathology, Neurodegeneration, and Cognitive Decline in a Familial Alzheimer's Disease Model.

Jhaldiyal A et al.

Biorxiv : the Preprint Server for Biology, 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

Retained introns in phototransduction genes of 5xFAD mouse retina suggest vision impairment as an early diagnostic marker for Alzheimer's disease.

Lee HM et al.

Scientific Reports, 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

Meningeal vascular Aβ deposition associates with cerebral hypoperfusion and compensatory collateral remodeling.

Kaloss AM et al.

Biorxiv : the Preprint Server for Biology, 2025

Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.

Fernández SG et al.

Molecular Neurodegeneration, 2025

Discovery of an ApoE4-targeted small-molecule SirT1 enhancer for the treatment of Alzheimer's disease.

Campagna J et al.

Scientific Reports, 2025

Upregulation of ISG15 induced by MAPT/tau accumulation represses autophagic flux by inhibiting HDAC6 activity: a vicious cycle in Alzheimer disease.

Liu Q et al.

Autophagy, 2025

A Peptide Motif Covering Splice Site B in Neuroligin-1 Binds to Aβ and Acts as a Neprilysin Inhibitor.

Dietz LT et al.

Molecular Neurobiology, 2025

Discovery of a small molecule secreted clusterin enhancer that improves memory in Alzheimer's disease mice.

Cohn W et al.

Npj Drug Discovery, 2025

Systemic lipid and glucose modulation differentially affects cognitive function and neuroinflammation in a mouse model of Alzheimer's disease.

Kynigopoulos D et al.

Frontiers in Neuroscience, 2025

Targeted autophagic clearance of Tau protects against Alzheimer's disease through amelioration of Tau-mediated lysosomal stress.

Yoon BH et al.

Theranostics, 2025

GNG5 is a novel regulator of Aβ42 production in Alzheimer's disease.

Li C et al.

Cell Death & Disease, 2024

The Molecular Bases of Anti-Oxidative and Anti-Inflammatory Properties of Paraoxonase 1.

Jakubowski H

Antioxidants (basel, Switzerland), 2024

Challenges and Opportunities for Consideration of Efavirenz Drug Repurposing for Alzheimer's Disease Therapeutics.

Boyarko B et al.

Acs Pharmacology & Translational Science, 2024

mTOR inhibition enhances synaptic and mitochondrial function in Alzheimer's disease in an APOE genotype-dependent manner.

Sanganahalli BG et al.

Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2024

FAM19A5 Deficiency Mitigates the Aβ Plaque Burden and Improves Cognition in Mouse Models of Alzheimer's Disease.

Park S et al.

Experimental Neurobiology, 2024

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

Medegan Fagla B et al.

Scientific Reports, 2024

TaqTth-hpRNA: a novel compact RNA-targeting tool for specific silencing of pathogenic mRNA.

Xu C et al.

Genome Biology, 2024

FGFR3 drives Aβ-induced tau uptake.

Kim DK et al.

Experimental & Molecular Medicine, 2024

Rodent Models of Alzheimer's Disease: Past Misconceptions and Future Prospects.

Collins HM et al.

International Journal of Molecular Sciences, 2024

Metabolomics profiling reveals distinct, sex-specific signatures in serum and brain metabolomes in mouse models of Alzheimer's disease.

Pandey RS et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Biomarker evidence of early vision and rod energy-linked pathophysiology benefits from very low dose DMSO in 5xFAD mice.

Berkowitz BA et al.

Acta Neuropathologica Communications, 2024

Monocytes release cystatin F dimer to associate with Aβ and aggravate amyloid pathology and cognitive deficits in Alzheimer's disease.

Li Q et al.

Journal of Neuroinflammation, 2024

Sex-specific mechanisms of cerebral microvascular BK Ca dysfunction in a mouse model of Alzheimer's disease.

da Silva JF et al.

Biorxiv : the Preprint Server for Biology, 2024

Corynoxine promotes TFEB/TFE3-mediated autophagy and alleviates Aβ pathology in Alzheimer's disease models.

Guan XJ et al.

Acta Pharmacologica Sinica, 2024

Simple modeling of familial Alzheimer's disease using human pluripotent stem cell-derived cerebral organoid technology.

Choe MS et al.

Stem Cell Research & Therapy, 2024

Innate immune activation in neurodegenerative diseases.

Castro-Gomez S et al.

Immunity, 2024

Corinthian Currants Promote the Expression of Paraoxonase-1 and Enhance the Antioxidant Status in Serum and Brain of 5xFAD Mouse Model of Alzheimer's Disease.

Lymperopoulos D et al.

Biomolecules, 2024

Repetitive head trauma and apoE4 induce chronic cerebrovascular alterations that impair tau elimination from the brain.

Eisenbaum M et al.

Experimental Neurology, 2024

Silencing Apoe with divalent-siRNAs improves amyloid burden and activates immune response pathways in Alzheimer's disease.

Ferguson CM et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Autosomal Dominant Alzheimer's Disease Mutations in Human Microglia Are Not Sufficient to Trigger Amyloid Pathology in WT Mice but Might Affect Pathology in 5XFAD Mice.

Romero-Molina C et al.

International Journal of Molecular Sciences, 2024

Single-Cell RNA-seq reveals transcriptomic modulation of Alzheimer's disease by activated protein C.

Fatmi MK et al.

Aging, 2024

Longitudinal progression of blood biomarkers reveals a key role of astrocyte reactivity in preclinical Alzheimer's disease.

Varma VR et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Cerebrovascular Dysfunction in Alzheimer's Disease and Transgenic Rodent Models.

Fang X et al.

Journal of Experimental Neurology, 2024

Expression Profiles of Brain-Derived Neurotrophic Factor Splice Variants in the Hippocampus of Alzheimer's Disease Model Mouse.

Matsuoka Y et al.

Biological & Pharmaceutical Bulletin, 2024

The novel estrogen receptor beta agonist EGX358 and APOE genotype influence memory, vasomotor, and anxiety outcomes in an Alzheimer's mouse model.

Schwabe MR et al.

Frontiers in Aging Neuroscience, 2024

Integrative multi-omic profiling of adult mouse brain endothelial cells and potential implications in Alzheimer's disease.

Yu M et al.

Cell Reports, 2023

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