Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.E280A
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PSEN1

NM_000021.4:p.E280A

Associated Papers

Understanding Neurodegenerative Diseases From the -Omics Perspective: Lessons Learnt.

Ibanez L et al.

Annals of Neurology, 2026

Safety and efficacy of crenezumab in cognitively unimpaired carriers of the PSEN1Glu280Ala mutation at risk for autosomal-dominant Alzheimer's disease in Colombia (API ADAD Colombia Trial): a phase 2, randomised, double-blind, placebo-controlled trial.

Tariot PN et al.

The Lancet. Neurology, 2026

Long-term forgetting, sleep, and tau in autosomal-dominant Alzheimer's disease.

You JC et al.

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

RIN3 mutations impairing binding of the Alzheimer's disease-associated protein BIN1 lead to RAB5 hyperactivation and endosomal pathology.

Maaser-Hecker AK et al.

Science Advances, 2026

Exploratory RNA Sequencing Reveals Systemic Metabolic Dysregulation in Alzheimer's Disease: Insights from a Diverse Latin American Cohort.

Villegas-Trujillo LM et al.

Molecular Neurobiology, 2026

Association between basal forebrain volume and age in the presenilin-1 E280A autosomal dominant Alzheimer's disease kindred.

He B et al.

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

Plasma extracellular vesicles from APOE3 Christchurch carriers display a protective phenotype in early stages of autosomal dominant Alzheimer's disease.

Pineda-Lopez L et al.

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

Contribution of local amyloid-β and tau burden to hypometabolism in autosomal-dominant Alzheimer's disease.

Tristão-Pereira C et al.

Brain Communications, 2026

Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.

Acosta-Uribe J et al.

Npj Dementia, 2026

15 years of longitudinal genetic, clinical, cognitive, imaging, and biochemical measures in DIAN.

Daniels AJ et al.

Npj Dementia, 2026

41709913 (PubMed )
Supplement: 44400_2025_47_MOESM1_ESM.pdf

N-Sulfated Heparan Sulfate Promotes Reelin Signaling as a Co-receptor.

Pan L et al.

Journal of the American Chemical Society, 2025

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

Ameen AO et al.

Cells, 2025

Neuronal PARIS-STAT3 axis drives tau pathology and glial activation in Alzheimer's disease.

Song JY et al.

Biorxiv : the Preprint Server for Biology, 2025

Iris mammillations in Cri-du-chat syndrome.

Landzberg RS et al.

American Journal of Ophthalmology Case Reports, 2025

Lysosomal proteomics reveals mechanisms of neuronal APOE4-associated lysosomal dysfunction.

Krogsaeter EK et al.

Autophagy, 2025

Serum Lipidome as an Early Peripheral Indicator in Familial Alzheimer's Disease.

Cardona-Gómez GP et al.

Biorxiv : the Preprint Server for Biology, 2025

The Christchurch point mutation in mouse APOE reduces Aβ-induced tau and α-synuclein pathologies.

Soto-Faguás CM et al.

Biorxiv : the Preprint Server for Biology, 2025

Restoring amyloid-β42 and γ-secretase function in Alzheimer's disease.

Espay AJ et al.

Brain : a Journal of Neurology, 2025

Presenilin 1 E280A mutation induces dysfunctional astrocytic phenotype in menstrual stromal-derived astrocyte-like cells.

Correa NQ et al.

Cellular and Molecular Life Sciences : Cmls, 2025

Protective mechanisms against Alzheimer's disease in APOE3-Christchurch homozygous astrocytes.

Tian X et al.

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

The Curious Case of a Heterozygous Loss-of-Function PSEN1 variant associated with Early-Onset Alzheimer's Disease.

Sanjuan Ruiz I et al.

Research Square, 2025

DAOA and APOEε4 as Modifiers of Age of Onset in Autosomal-Dominant Early-Onset Alzheimer's Disease Caused by the PSEN1 A431E Variant.

Valdez-Gaxiola CA et al.

International Journal of Molecular Sciences, 2025

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

Stancheva M et al.

International Journal of Molecular Sciences, 2025

The R136S mutation in the APOE3 gene confers resilience against tau pathology via inhibition of the cGAS-STING-IFN pathway.

Naguib S et al.

Immunity, 2025

Presenilin 1 hemizygosity has no overt deleterious phenotypic outcomes in sheep: Potential implications for therapeutic targets in Alzheimer's disease.

Mckean NE et al.

Neurobiology of Aging, 2025

Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer's Disease.

Xia Y et al.

Neurology and Therapy, 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

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

Synapse vulnerability and resilience across the clinical spectrum of dementias.

Taddei RN et al.

Nature Reviews. Neurology, 2025

Plasma p-tau231 in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: A cross-sectional and longitudinal cohort study.

Malotaux V et al.

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

ApoE3 Christchurch and tau interaction as a protective mechanism against Alzheimer's disease.

Perez-Corredor P et al.

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

An increased excitation and inhibition onto CA1 pyramidal cells sets the path to Alzheimer's disease.

Wehrle PH et al.

Biorxiv : the Preprint Server for Biology, 2025

Religious stress coping is associated with lower entorhinal tau pathology and better memory performance in autosomal dominant Alzheimer's disease.

Martinez JE et al.

Journal of Alzheimer's Disease : Jad, 2025

Protective genetic variants against Alzheimer's disease.

Marino C et al.

The Lancet. Neurology, 2025

Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.

Acosta-Uribe J et al.

Research Square, 2025

PF-06447475 Molecule Attenuates the Neuropathology of Familial Alzheimer's and Coexistent Parkinson's Disease Markers in PSEN1 I416T Dopaminergic-like Neurons.

Quintero-Espinosa DA et al.

Molecules (basel, Switzerland), 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

Apolipoprotein E in Alzheimer's disease: molecular insights and therapeutic opportunities.

Belaidi AA et al.

Molecular Neurodegeneration, 2025

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

MacMullen C et al.

Brain : a Journal of Neurology, 2025

Longitudinal analysis of a dominantly inherited Alzheimer disease mutation carrier protected from dementia.

Llibre-Guerra JJ et al.

Nature Medicine, 2025

Frequency of variants in Mendelian Alzheimer's disease genes within the Alzheimer's Disease Sequencing Project.

Wang D et al.

Journal of Alzheimer's Disease : Jad, 2025

Protective Genes Against Alzheimer's Disease: Case Review and Therapeutic Implications.

Hossain N et al.

Dementia and Neurocognitive Disorders, 2025

Tau-targeting nanoparticles for treatment of Alzheimer's disease.

Pawar S et al.

Exploration (beijing, China), 2025

40395755 (PubMed )
Supplement: EXP2-5-20230137-s001.xlsx › Sheet2

Tau-PET pathology in the subregions of the amygdala and its associations with cognitive performance and neuropsychiatric symptoms in autosomal dominant Alzheimer's disease.

Tristão-Pereira C et al.

Alzheimer's Research & Therapy, 2025

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