Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L166P
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PSEN1

NM_000021.4:p.L166P

Associated Papers

ABCA7 deficiency exacerbates glutamate excitotoxicity in Alzheimer's disease mice - a new pharmacological target for Glu-related neurotoxicity.

Górska AM et al.

Progress in Neurobiology, 2026

Presenilin L166P Mutation, a Model of Familial Alzheimer's Disease, Leads to Early Onset Bone Loss.

Suryadevara V et al.

Comprehensive Physiology, 2026

A C. elegans model of familial Alzheimer's disease shows age-dependent synaptic degeneration independent of amyloid β-peptide.

Nagarajan V et al.

Neurobiology of Disease, 2026

The role of astrocytes in Alzheimer's disease: Pathophysiology, biomarkers, and therapeutic potential.

Abedin MJ et al.

Journal of Alzheimer's Disease : Jad, 2026

Structural and functional effects of disease mutations in the interface of human membrane protein complexes.

Ridha F et al.

International Journal of Biological Macromolecules, 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

A C. elegans model of familial Alzheimer's disease shows age-dependent synaptic degeneration independent of amyloid β-peptide.

Nagarajan V et al.

Biorxiv : the Preprint Server for Biology, 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 › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.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

γ-secretase facilitates retromer-mediated retrograde transport.

Takeo Y et al.

Journal of Cell Science, 2025

Divergent Effects of APOE3 and APOE4 Human Astrocytes on Key Alzheimer's Disease Hallmarks in Chimeric Mice.

Cruz-Sese J et al.

Biorxiv : the Preprint Server for Biology, 2025

Quantitative 3D histochemistry reveals region-specific amyloid-β reduction by the antidiabetic drug netoglitazone.

Catto F et al.

Plos One, 2025

Transmissible long-term neuroprotective and pro-cognitive effects of 1-42 beta-amyloid with A2T icelandic mutation in an Alzheimer's disease mouse model.

Célestine M et al.

Molecular Psychiatry, 2024

Mapping cellular stress and lipid dysregulation in Alzheimer-related progressive neurodegeneration using label-free Raman microscopy.

Haessler A et al.

Communications Biology, 2024

PS1/gamma-secretase acts as rogue chaperone of glutamate transporter EAAT2/GLT-1 in Alzheimer's disease.

Perrin F et al.

Acta Neuropathologica Communications, 2024

Vascular Function and Ion Channels in Alzheimer's Disease.

Taylor JL et al.

Microcirculation (new York, N.y. : 1994), 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

ERRα and ERRγ coordinate expression of genes associated with Alzheimer's disease, inhibiting DKK1 to suppress tau phosphorylation.

Sato K et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Primary lateral sclerosis associated with PSEN1 Pro284Leu variant in a Colombian family: Clinical and neuropathological features.

Acosta-Uribe J et al.

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

Quantitative 3D histochemistry reveals region-specific amyloid-β reduction by the antidiabetic drug netoglitazone.

Catto F et al.

Biorxiv : the Preprint Server for Biology, 2024

Complement C3aR signaling: Immune and metabolic modulation and its impact on Alzheimer's disease.

Gedam M et al.

European Journal of Immunology, 2024

Humanin variant P3S is associated with longevity in APOE4 carriers and resists APOE4-induced brain pathology.

Miller B et al.

Aging Cell, 2024

Alzheimer's disease pathophysiology in the Retina.

Gaire BP et al.

Progress in Retinal and Eye Research, 2024

γ-secretase facilitates retromer-mediated retrograde transport.

Takeo Y et al.

Biorxiv : the Preprint Server for Biology, 2024

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Divergent Age-Dependent Conformational Rearrangement within Aβ Amyloid Deposits in APP23, APPPS1, and AppNL-F Mice.

Parvin F et al.

Acs Chemical Neuroscience, 2024

APOE2 gene therapy reduces amyloid deposition and improves markers of neuroinflammation and neurodegeneration in a mouse model of Alzheimer disease.

Jackson RJ et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024

Innate immune activation in neurodegenerative diseases.

Castro-Gomez S et al.

Immunity, 2024

Familial Alzheimer mutations stabilize synaptotoxic γ-secretase-substrate complexes.

Devkota S et al.

Cell Reports, 2024

Presenilin: A Multi-Functional Molecule in the Pathogenesis of Alzheimer's Disease and Other Neurodegenerative Diseases.

Sun Y et al.

International Journal of Molecular Sciences, 2024

Inflammasome signaling is dispensable for ß-amyloid-induced neuropathology in preclinical models of Alzheimer's disease.

Srinivasan S et al.

Frontiers in Immunology, 2024

Translational profiling identifies sex-specific metabolic and epigenetic reprogramming of cortical microglia/macrophages in APPPS1-21 mice with an antibiotic-perturbed-microbiome.

Shaik SM et al.

Molecular Neurodegeneration, 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

PS1/gamma-secretase acts as rogue chaperone of glutamate transporter EAAT2/GLT-1 in Alzheimer's disease.

Perrin F et al.

Research Square, 2023

APOE4 impairs the microglial response in Alzheimer's disease by inducing TGFβ-mediated checkpoints.

Yin Z et al.

Nature Immunology, 2023

A novel peptide derived from vascular endothelial growth factor prevents amyloid beta aggregation and toxicity.

Bouvet P et al.

Aging Cell, 2023

APOE2 gene therapy reduces amyloid deposition, and improves markers of neuroinflammation and neurodegeneration in a mouse model of Alzheimer disease.

Jackson RJ et al.

Biorxiv : the Preprint Server for Biology, 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

Pathogenic Aβ production by heterozygous PSEN1 mutations is intrinsic to the mutant protein and not mediated by conformational hindrance of wild-type PSEN1.

Kurth V et al.

The Journal of Biological Chemistry, 2023

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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."