Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.A246E
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PSEN1

NM_000021.4:p.A246E

Associated Papers

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

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

Glial and Neuronal Alzheimer's Disease-Related Alterations Reproduced in Human Induced Pluripotent Stem Cells With Presenilin-1 Mutation.

Comolli D et al.

Research Square, 2026

Clinical and functional evidence supporting the pathogenicity of the novel PSEN1 p.R358P variant in early-onset Alzheimer's disease.

García-Chialva DE et al.

Journal of Alzheimer's Disease : Jad, 2026

Neurodegenerative disease and autophagy in iPSC-based models.

Odonchimed S et al.

Neuroscience Research, 2026

Postmortem brain MRI reveals differential associations of subcortical and limbic volumes with cortical thinning and neuropathology patterns.

Khandelwal P et al.

Biorxiv : the Preprint Server for Biology, 2025

Pluripotent stem cells-based neural organoids for modelling human brain development and diseases.

Tong L et al.

Cell & Bioscience, 2025

Elevated TFEB expression with limited activation in peripheral blood mononuclear cells reflects altered lysosomal enzyme dynamics in Parkinson's disease.

Mizutani Y et al.

Neurobiology of Disease, 2025

THICAPA modulates amyloid precursor protein processing and alleviates oxidative stress in fibroblasts derived from patients with Familial Alzheimer's disease.

Thangeswaran D et al.

Molecular Biology Reports, 2025

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 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

Viral Infection Induces Alzheimer's Disease-Related Pathways and Senescence in iPSC-Derived Neuronal Models.

Hribkova H et al.

Biorxiv : the Preprint Server for Biology, 2025

Beyond the brain: early autonomic dysfunction in Alzheimer's disease.

Nanclares C et al.

Acta Neuropathologica Communications, 2025

Elevated p16Ink4a Expression Enhances Tau Phosphorylation in Neurons Differentiated From Human-Induced Pluripotent Stem Cells.

Holloway K et al.

Aging Cell, 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

Transthyretin as a therapeutic target: the future of disease-modifying therapies for Alzheimer's disease.

Shaw S et al.

Molecular Biology 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

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

Chou CC et al.

Nature Cell Biology, 2025

40140603 (PubMed )
Supplement: 41556_2025_1623_MOESM3_ESM.xlsx › S1

Aβ-driven nuclear pore complex dysfunction alters activation of necroptosis proteins in a mouse model of Alzheimer's disease.

Bansal VA et al.

Elife, 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

γ-Secretase modulator resistance of an aggressive Alzheimer-causing presenilin mutant can be overcome in the heterozygous patient state by a set of advanced compounds.

Trambauer J et al.

Alzheimer's Research & Therapy, 2025

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S et al.

Nature Medicine, 2025

39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing

Basal forebrain global functional connectivity is preserved in asymptomatic presenilin-1 E280A mutation carriers: Results from the Colombia cohort.

Grazia A et al.

The Journal of Prevention of Alzheimer's Disease, 2025

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

Chou CC et al.

Biorxiv : the Preprint Server for Biology, 2025

37034684 (PubMed )
Supplement: media-13.xlsx › S1

OAS1: A Protective Mechanism for Alzheimer's Disease? An Exploration of Data and Possible Mechanisms.

Elsworthy RJ et al.

International Journal of Molecular Sciences, 2025

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

Elsworthy RJ et al.

Journal of Neurochemistry, 2025

Skin and Induced Pluripotent Stem Cells as Biomarkers for Neurodegenerative Diseases.

Rallis E et al.

Genes, 2024

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2024

TDP43 aggregation at ER-exit sites impairs ER-to-Golgi transport.

Wu H et al.

Nature Communications, 2024

Advances in the cell biology of the trafficking and processing of amyloid precursor protein: impact of familial Alzheimer's disease mutations.

Wang J et al.

The Biochemical Journal, 2024

Comprehensive Overview of Alzheimer's Disease: Etiological Insights and Degradation Strategies.

Singh MK et al.

International Journal of Molecular Sciences, 2024

Inhibitory Roles of Apolipoprotein E Christchurch Astrocytes in Curbing Tau Propagation Using Human Pluripotent Stem Cell-Derived Models.

Murakami R et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2024

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

Collins HM et al.

International Journal of Molecular Sciences, 2024

Gene replacement-Alzheimer's disease (GR-AD): Modeling the genetics of human dementias in mice.

Benzow K et al.

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

Carvedilol suppresses ryanodine receptor-dependent Ca2+ bursts in human neurons bearing PSEN1 variants found in early onset Alzheimer's disease.

Hori A et al.

Plos One, 2024

Alzheimer's disease induced neurons bearing PSEN1 mutations exhibit reduced excitability.

Maksour S et al.

Frontiers in Cellular Neuroscience, 2024

Cerebral organoids derived from patients with Alzheimer's disease with PSEN1/2 mutations have defective tissue patterning and altered development.

Vanova T et al.

Cell Reports, 2023

Development of a three-dimensional organoid model to explore early retinal phenotypes associated with Alzheimer's disease.

Lavekar SS et al.

Scientific Reports, 2023

The Proteome Profile of Olfactory Ecto-Mesenchymal Stem Cells-Derived from Patients with Familial Alzheimer's Disease Reveals New Insights for AD Study.

Rochín-Hernández LJ et al.

International Journal of Molecular Sciences, 2023

Cholinergic-like neurons and cerebral spheroids bearing the PSEN1 p.Ile416Thr variant mirror Alzheimer's disease neuropathology.

Gomez-Sequeda N et al.

Scientific Reports, 2023

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