Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.N141I
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PSEN2

NM_000447.3:p.N141I

Associated Papers

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

Neurodegenerative disease and autophagy in iPSC-based models.

Odonchimed S et al.

Neuroscience Research, 2026

A neuroimmune cerebral assembloid model to study the pathophysiology of familial Alzheimer's disease.

Becerra-Calixto A et al.

Journal of Neuroinflammation, 2025

Chaperone-mediated autophagy regulates neuronal activity by sex-specific remodelling of the synaptic proteome.

Khawaja RR et al.

Nature Cell Biology, 2025

Down syndrome and a presenilin 2 variant: dual genetic risk of Alzheimer's disease.

Ogg J et al.

Acta Neuropathologica, 2025

Presence of Alzheimer's disease variants in circular RNA of PSEN1 and PSEN2.

Johnson IP et al.

Journal of Alzheimer's Disease : Jad, 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

Protective genetic variants against Alzheimer's disease.

Marino C et al.

The Lancet. Neurology, 2025

Benchmarking AlphaMissense pathogenicity predictions against APP, PSEN1, and PSEN2 variants of unknown significance.

Pillai J et al.

Biochemistry and Biophysics Reports, 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

40281586 (PubMed )
Supplement: 13024_2025_832_MOESM1_ESM.docx

Presenilin, γ-Secretase, and the Search for Pathogenic Triggers of Alzheimer's Disease.

Wolfe MS

Biochemistry, 2025

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

MacMullen C et al.

Brain : a Journal of Neurology, 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

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

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

Poniah P et al.

Genes, 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

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

The Spectrum of Genetic Risk in Alzheimer Disease.

Karagas N et al.

Neurology. Genetics, 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

Sex-related differences in genetically determined Alzheimer's disease.

Del Hoyo Soriano L et al.

Frontiers in Aging Neuroscience, 2025

Organelle abnormalities in Alzheimer's disease.

Gao J et al.

Organelle (tucson, Ariz.), 2025

The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.

Liu L et al.

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

Altered expression of Presenilin2 impacts endolysosomal homeostasis and synapse function in Alzheimer's disease-relevant brain circuits.

Perdok A et al.

Nature Communications, 2024

Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP).

Wang D et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer's Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis.

Yang Y et al.

International Journal of Molecular Sciences, 2024

Production of a heterozygous exon skipping model of common marmosets using gene-editing technology.

Sato K et al.

Lab Animal, 2024

PSEN2 Mutations May Mimic Frontotemporal Dementia: Two New Case Reports and a Review.

Minguillón Pereiro AM et al.

Biomedicines, 2024

Presenilin2 D439A Mutation Induces Dysfunction of Mitochondrial Fusion/Fission Dynamics and Abnormal Regulation of GTPase Activity.

Gao C et al.

Molecular Neurobiology, 2024

The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.

Liu L et al.

Biorxiv : the Preprint Server for Biology, 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

Mesenchymal Stem Cells from Familial Alzheimer's Patients Express MicroRNA Differently.

Rochín-Hernández LJ et al.

International Journal of Molecular Sciences, 2024

iPSC-derived PSEN2 (N141I) astrocytes and microglia exhibit a primed inflammatory phenotype.

Sullivan MA et al.

Journal of Neuroinflammation, 2024

JUN upregulation drives aberrant transposable element mobilization, associated innate immune response, and impaired neurogenesis in Alzheimer's disease.

Scopa C et al.

Nature Communications, 2023

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

Clinical considerations in early-onset cerebral amyloid angiopathy.

Banerjee G et al.

Brain : a Journal of Neurology, 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

Genetic Phenotypes of Alzheimer's Disease: Mechanisms and Potential Therapy.

Quan M et al.

Phenomics (cham, Switzerland), 2023

Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway.

Guo Y et al.

Nature Communications, 2023

Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains.

Novotny BC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023

36251323 (PubMed )
Supplement: NIHMS1865189-supplement-SUPPORTING_INFORMATION_3.xlsx › Table_S1

BMP4-SMAD1/5/9-RUNX2 pathway activation inhibits neurogenesis and oligodendrogenesis in Alzheimer's patients' iPSCs in senescence-related conditions.

Nakatsu D et al.

Stem Cell Reports, 2023

36764297 (PubMed )
Supplement: mmc1.pdf
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