Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.V717I
Back to variants list

APP

NM_000484.4:p.V717I

Associated Papers

Human in vitro and rodent in vivo models highlight progressive mitochondrial dysfunction as a starting point of cerebral amyloidosis.

Motamed Z et al.

Neurobiology of Aging, 2026

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

PICALM Genetic Variant Alters mRNA Expression Without Affecting Protein Levels or Tau Spreading in Alzheimer's Disease.

Ando K et al.

Cells, 2026

41677602 (PubMed )
Supplement: cells-15-00235-s001.zip › cells-4030729-supplementary.pdf

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

Agomelatine drives sex-specific neuroprotection and reduced pathology in rat and human Alzheimer's models.

Terry GA et al.

Biorxiv : the Preprint Server for Biology, 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

Generation of hiPSC-Derived Brain Microvascular Endothelial Cells Using Directed Differentiation and Transcriptional Reprogramming.

Cui A et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2026

Neurodegenerative disease and autophagy in iPSC-based models.

Odonchimed S et al.

Neuroscience Research, 2026

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

Ackley C et al.

Molecular Neurodegeneration Advances, 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

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

Johansson C et al.

Alzheimer's Research & Therapy, 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

Upregulation of MAM by C99 disrupts ACSL4 activity and phospholipid homeostasis in Alzheimer's disease models.

Montesinos J et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Kaloss AM et al.

Alzheimer's Research & Therapy, 2025

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

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

Melatonin-Mediated Nrf2 Activation as a Potential Therapeutic Strategy in Mutation-Driven Neurodegenerative Diseases.

Íñigo-Catalina L et al.

Antioxidants (basel, Switzerland), 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

Recent Advances and Future Directions in Alzheimer's Disease Genetic Research.

Stancheva M et al.

International Journal of Molecular Sciences, 2025

Proinflammatory transcriptomic and kinomic alterations in astrocytes derived from patients with familial Alzheimer's disease.

Siciliano B et al.

Brain, Behavior, & Immunity - Health, 2025

Systematic analysis of cellular cross-talk reveals a role for SEMA6D-TREM2 regulating microglial function in Alzheimer's disease.

D'Oliveira Albanus R et al.

Science Translational Medicine, 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

Mislocalization of nucleic acids is a convergent and targetable mechanism in Alzheimer's disease and frontotemporal dementia.

Hung C et al.

Cell Reports, 2025

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

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

Synaptic vulnerability to amyloid-β and tau pathologies differentially disrupts emotional and memory neural circuits.

Capilla-López MD et al.

Molecular Psychiatry, 2025

Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next.

Piccinin CC et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

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

Kaloss AM et al.

Biorxiv : the Preprint Server for Biology, 2025

Targeting RPSA to modulate endosomal trafficking and amyloidogenesis in genetic Alzheimer's disease.

Limone A et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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

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

Mitochondrial dynamics and bioenergetics in Alzheimer's induced pluripotent stem cell-derived neurons.

MacMullen C et al.

Brain : a Journal of Neurology, 2025

BACE1-dependent cleavage of GABAA receptor contributes to neural hyperexcitability and disease progression in Alzheimer's disease.

Bi D et al.

Neuron, 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

Proteostasis and lysosomal repair deficits in transdifferentiated neurons of Alzheimer's disease.

Chou CC et al.

Nature Cell Biology, 2025

Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.

Poniah P et al.

Genes, 2025

40149496 (PubMed )
Supplement: genes-16-00345-s001.zip › genes-3411048-supplementary.pdf

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

Ide Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory Study.

Foddis M et al.

Stroke, 2025

39866114 (PubMed )
Supplement: EMS202781-supplement-Supplemental_Publication_Material.pdf

Retinal and Optic Nerve Lesions Correspond to Amyloid in Autosomal Dominant Alzheimer's Disease.

Kashani AH et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Proteostasis and lysosomal repair deficits in transdifferentiated neurons of Alzheimer's disease.

Chou CC et al.

Biorxiv : the Preprint Server for Biology, 2025

Integrative multiomics reveals common endotypes across PSEN1, PSEN2, and APP mutations in familial Alzheimer's disease.

Valdes P et al.

Alzheimer's Research & Therapy, 2025

Emerging structures and dynamic mechanisms of γ-secretase for Alzheimer's disease.

Miao Y et al.

Neural Regeneration Research, 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

1–50 of 600 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."