Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L286V
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PSEN1

NM_000021.4:p.L286V

Associated Papers

A ligand-mimetic anti-TREM2 agonist antibody elevates soluble TREM2 and ameliorates pathology in mouse models of Alzheimer's disease and multiple sclerosis.

Chen B et al.

Journal of Neuroinflammation, 2026

Appearance of Amyloid-β Early in Life Initiates Neuronal Hyper-excitability, Mitochondrial Decay, and Loss of Dendritic Complexity in the Hippocampal CA1 Region of 5xFAD Mice.

Kelley AR et al.

Biorxiv : the Preprint Server for Biology, 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

Mitochondrial dysfunction and Ca2+ dysregulation in human iPSC-derived neurons carrying presenilin-1 mutation arise under stress via an MCU-1-independent mechanism.

Wilson C et al.

Scientific Reports, 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

Catestatin ameliorates tauopathy and amyloidogenesis via adrenergic inhibition.

Jati S et al.

Biorxiv : the Preprint Server for Biology, 2026

Microglial histone H3K18 crotonylation promotes STAT1 expression and induces cognitive deficit in Alzheimer disease.

Weng Y et al.

Frontiers in Immunology, 2026

PIP2 corrects an endothelial Piezo1 channelopathy.

Hashad AM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Metabolic Astrocytic Support with Decanoic Acid Enhances Energy Metabolism in Alzheimer's Disease Models.

Ameen AO et al.

Cells, 2025

Long-read RNA-seq demarcates cis- and trans-directed alternative RNA splicing.

Quinones-Valdez G et al.

Nature Communications, 2025

41168189 (PubMed )
Supplement: 41467_2025_64605_MOESM13_ESM.pdf

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

ApoE-calypse tau: ApoE-tau synergy in Alzheimer's disease.

Lennol MP et al.

The Journal of Experimental Medicine, 2025

G-protein-coupled receptor ADGRG1 drives a protective microglial state in Alzheimer's disease through MYC activation.

Zhu B et al.

Neuron, 2025

APOE deficiency inhibits amyloid-facilitated (A) tau pathology (T) and neurodegeneration (N), halting progressive ATN pathology in a preclinical model.

Vanherle S et al.

Molecular Psychiatry, 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

Stabilizing the retromer complex rescues synaptic dysfunction and endosomal trafficking deficits in an Alzheimer's disease mouse model.

Ramonet D et al.

Acta Neuropathologica Communications, 2025

Thymosin beta 4 as an Alzheimer disease intervention target identified using human brain organoids.

Zeng PM et al.

Stem Cell Reports, 2025

40816274 (PubMed )
Supplement: mmc1.pdf

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

Ms4a4a deficiency ameliorates plaque pathology in a mouse model of amyloid accumulation.

Danhash EP et al.

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

Loss of lysosomal acid lipase contributes to Alzheimer's disease pathology and cognitive decline.

Barnett AM et al.

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

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

Ji HN et al.

Cell & Bioscience, 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

New mechanisms highlight the complex relationship of Apolipoprotein E and tau pathogenesis.

Chakrabarty P et al.

Neuron, 2025

S-Nitrosylation of CRTC1 in Alzheimer's disease impairs CREB-dependent gene expression induced by neuronal activity.

Zhang X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

EBP1 potentiates amyloid β pathology by regulating γ-secretase.

Kim BS et al.

Nature Aging, 2025

APOE Christchurch enhances a disease-associated microglial response to plaque but suppresses response to tau pathology.

Tran KM et al.

Molecular Neurodegeneration, 2025

Altered metabolic function induced by Aβ-oligomers and PSEN1 mutations in iPSC-derived astrocytes.

Elsworthy RJ et al.

Journal of Neurochemistry, 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

Alterations in zinc, copper, and iron levels in the retina and brain of Alzheimer's disease patients and the APP/PS1 mouse model.

Hosseinpour Mashkani SM et al.

Metallomics : Integrated Biometal Science, 2024

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

Jakubowski H

Antioxidants (basel, Switzerland), 2024

Alzheimer's-linked axonal changes accompany elevated antidromic action potential failure rate in aged mice.

Russo ML et al.

Brain Research, 2024

RTP801 interacts with the tRNA ligase complex and dysregulates its RNA ligase activity in Alzheimer's disease.

Campoy-Campos G et al.

Nucleic Acids Research, 2024

Comprehensive Analysis of the 5xFAD Mouse Model of Alzheimer's Disease Using dMRI, Immunohistochemistry, and Neuronal and Glial Functional Metabolic Mapping.

Westi EW et al.

Biomolecules, 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

AlzDiscovery: A computational tool to identify Alzheimer's disease-causing missense mutations using protein structure information.

Pan Q et al.

Protein Science : a Publication of the Protein Society, 2024

A novel PDHK inhibitor restored cognitive dysfunction and limited neurodegeneration without affecting amyloid pathology in 5xFAD mouse, a model of Alzheimer's disease.

Sakimura K et al.

Alzheimer's Research & Therapy, 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

Homocysteine Thiolactone Detoxifying Enzymes and Alzheimer's Disease.

Jakubowski H

International Journal of Molecular Sciences, 2024

1–50 of 398 papers
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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."