Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.K670N
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APP

NM_000484.4:p.K670N

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

Probing APP Cleavage and Amyloid-β Assembly via Synthetic MUC-Type O-Glycosylated APP Glycopeptides.

Vela Navarro N et al.

Acs Chemical Neuroscience, 2026

Autophagy Activators Normalize Aberrant Tau Proteostasis and Rescue Synapses in Human Familial Alzheimer's Disease iPSC-Derived Cortical Organoids.

Labra SR et al.

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

Aquaporin-4 and caveolin-1 as mediators of fibrinogen-driven cerebrovascular pathology in cerebral amyloid angiopathy.

Singh V et al.

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

Noradrenergic innervation across brain regions is altered by aging and by disease progression in a mouse model of Alzheimer's disease neuropathology.

Hernandez NM et al.

Plos One, 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

Discovery of small molecules and a druggable groove that regulate DNA binding and release of the AP-1 transcription factor ΔFOSB.

McNeme S et al.

The Journal of Biological Chemistry, 2025

Fshr gene depletion prevents recognition memory loss, fat accrual and bone loss in Alzheimer's mice.

Cheliadinova U et al.

Molecular Psychiatry, 2025

Tau protein: Physiological functions and multifaceted roles in neurodegenerative and psychiatric disorders.

Tang F et al.

Genomic Psychiatry : Advancing Science From Genes to Society, 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

A decade progress in the phenotyping of AppNL-G-F knock-in mouse model of Alzheimer's disease.

Manabe T et al.

Neuroscience Research, 2025

ACLY regulates autolysosome acidification through tubulin acetylation-mediated assembly of V-ATPase subunits in Alzheimer's disease model mice.

Lin A et al.

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

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

Ceyzériat K et al.

Journal of Neuroinflammation, 2025

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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

Discovery of Small Molecules and a Druggable Groove That Regulate DNA Binding and Release of the AP1 Transcription Factor ΔFOSB.

McNeme S et al.

Biorxiv : the Preprint Server for Biology, 2025

Efficient in vivo pharmacological inhibition of ΔFOSB, an AP1 transcription factor, in brain.

McNeme S et al.

Biorxiv : the Preprint Server for Biology, 2025

Insights into insulin signalling and oxidative stress in the Tg2576 mouse model of familial Alzheimer's disease: effects of chronic oral galactose administration.

Babić Perhoč A et al.

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

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

Genetic ablation of neuronal mitochondrial calcium uptake impedes Alzheimer's disease progression.

Jadiya P et al.

Biorxiv : the Preprint Server for Biology, 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

Polygenic risk score of Alzheimer's disease is associated with cognitive trajectories and phenotypes of cerebral organoids.

Chun MY et al.

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

Aquaporin-4 and Caveolin-1 as Mediators of Fibrinogen-Driven Cerebrovascular Pathology in Cerebral Amyloid Angiopathy.

Singh V et al.

Biorxiv : the Preprint Server for Biology, 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

Autophagy activators normalize aberrant Tau proteostasis and rescue synapses in human familial Alzheimer's disease iPSC-derived cortical organoids.

Labra SR 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.

Biorxiv : the Preprint Server for Biology, 2025

Overexpression of TGFBR3 Aggravates Cognitive Impairment and Neuroinflammation by Promoting Microglia M1 Polarization in the APP/PS1 Mouse Model of Alzheimer's Disease.

Song H et al.

Molecular Neurobiology, 2025

Tg-SwDI transgenic mice: A suitable model for Alzheimer's disease and cerebral amyloid angiopathy basic research and preclinical studies.

Rodriguez-Lopez A et al.

Experimental Neurology, 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

Implications of Mucin-Type O-Glycosylation in Alzheimer's Disease.

Vela Navarro N et al.

Molecules (basel, Switzerland), 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

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

Campagna J et al.

Scientific Reports, 2025

Dysregulated ac4C modification of mRNA in a mouse model of early-stage Alzheimer's disease.

Ji HN et al.

Cell & Bioscience, 2025

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

MacMullen C et al.

Brain : a Journal of Neurology, 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

Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2.

Marsh JA et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025

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

Chou CC et al.

Nature Cell Biology, 2025

Amyloid precursor protein and presenilin-1 knock-in immunodeficient mice exhibit intraneuronal Aβ pathology, microgliosis, and extensive neuronal loss.

Yeapuri P et al.

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

Cerebral proteome adaptations to amyloid angiopathy are prevented by carbonic anhydrase inhibitors.

Carlsen J et al.

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

BOK-engaged mitophagy alleviates neuropathology in Alzheimer's disease.

Yang Y et al.

Brain : a Journal of Neurology, 2025

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

Chou CC et al.

Biorxiv : the Preprint Server for Biology, 2025

Reduction of orexin-expressing neurons and a unique sleep phenotype in the Tg-SwDI mouse model of Alzheimer's disease.

Wu Y et al.

Frontiers in Aging Neuroscience, 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

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