Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.P301S
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PSAP

NM_002778.4:p.P301S

Associated Papers

AZP2006 (Ezeprogind®): a Promising New Drug Candidate in the Battle Against Neurodegenerative Diseases.

Verwaerde P et al.

Chemmedchem, 2025

Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures.

Wang J et al.

Cerebellum (london, England), 2024

The Enigma of Tau Protein Aggregation: Mechanistic Insights and Future Challenges.

Zheng H et al.

International Journal of Molecular Sciences, 2024

An in situ and in vitro investigation of cytoplasmic TDP-43 inclusions reveals the absence of a clear amyloid signature.

Cascella R et al.

Annals of Medicine, 2023

Targeted brain-specific tauopathy compromises peripheral skeletal muscle integrity and function.

Alava B et al.

Biorxiv : the Preprint Server for Biology, 2023

Glaucoma as a Tauopathy-Is It the Missing Piece in the Glaucoma Puzzle?

Passaro ML et al.

Journal of Clinical Medicine, 2023

Anti-tau antibodies targeting a conformation-dependent epitope selectively bind seeds.

Hitt BD et al.

The Journal of Biological Chemistry, 2023

FSH and ApoE4 contribute to Alzheimer's disease-like pathogenesis via C/EBPβ/δ-secretase in female mice.

Xiong J et al.

Nature Communications, 2023

Monoclonal antibody Y01 prevents tauopathy progression induced by lysine 280-acetylated tau in cell and mouse models.

Song HL et al.

The Journal of Clinical Investigation, 2023

Inhibition of histone methyltransferase Smyd3 rescues NMDAR and cognitive deficits in a tauopathy mouse model.

Williams JB et al.

Nature Communications, 2023

Quantitative super-resolution imaging of pathological aggregates reveals distinct toxicity profiles in different synucleinopathies.

Morten MJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Tau seeding in cases of multiple sclerosis.

LaCroix MS et al.

Acta Neuropathologica Communications, 2022

Seed-competent tau monomer initiates pathology in a tauopathy mouse model.

Mirbaha H et al.

The Journal of Biological Chemistry, 2022

Synaptic Localisation of Tau.

Hanger DP et al.

Advances in Experimental Medicine and Biology, 2019

Cellular Prion Protein Mediates the Disruption of Hippocampal Synaptic Plasticity by Soluble Tau In Vivo.

Ondrejcak T et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018

Epitope determines efficacy of therapeutic anti-Tau antibodies in a functional assay with human Alzheimer Tau.

Courade JP et al.

Acta Neuropathologica, 2018

In Vivo Tau Imaging for a Diagnostic Platform of Tauopathy Using the rTg4510 Mouse Line.

Sahara N et al.

Frontiers in Neurology, 2017

Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations.

Iovino M et al.

Brain : a Journal of Neurology, 2015

Increased tau phosphorylation and tau truncation, and decreased synaptophysin levels in mutant BRI2/tau transgenic mice.

Garringer HJ et al.

Plos One, 2013

Dietary cholesterol and its effect on tau protein: a study in apolipoprotein E-deficient and P301L human tau mice.

Glöckner F et al.

Journal of Neuropathology and Experimental Neurology, 2011

Hallmark cellular pathology of Alzheimer's disease induced by mutant human tau expression in cultured Aplysia neurons.

Shemesh OA et al.

Acta Neuropathologica, 2010

Axonal degeneration induced by targeted expression of mutant human tau in oligodendrocytes of transgenic mice that model glial tauopathies.

Higuchi M et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005

Frontotemporal dementia and tauopathy.

Yoshiyama Y et al.

Current Neurology and Neuroscience Reports, 2001

Reduced binding of protein phosphatase 2A to tau protein with frontotemporal dementia and parkinsonism linked to chromosome 17 mutations.

Goedert M et al.

Journal of Neurochemistry, 2000

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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."