Varaico: Literature-Extracted Genetic Variants

Gene:KHDRBS1
Variant:p.P301S
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KHDRBS1

NM_006559.3:p.P301S

Associated Papers

Pharmacologic reversal of advanced Alzheimer's disease in mice and identification of potential therapeutic nodes in human brain.

Chaubey K et al.

Cell Reports. Medicine, 2026

Dual Regulatory Roles of USP10 in Tau Pathology and Neuronal Fate During Alzheimer's Disease Progression.

Takahashi M et al.

Molecular and Cellular Biology, 2026

A rare genetic variant confers resistance to neurodegeneration across multiple neurological disorders by augmenting selective autophagy.

Croce KR et al.

Neuron, 2025

Upregulating ANKHD1 in PS19 Mice Reduces Tau Phosphorylation and Mitigates Tau Toxicity-Induced Cognitive Deficits.

Tian X et al.

International Journal of Molecular Sciences, 2025

Neuronal glycogen breakdown mitigates tauopathy via pentose-phosphate-pathway-mediated oxidative stress reduction.

Bar S et al.

Nature Metabolism, 2025

PM2.5 triggers tau aggregation in a mouse model of tauopathy.

Liu C et al.

Jci Insight, 2024

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

Zheng H et al.

International Journal of Molecular Sciences, 2024

Limitations of human tau-expressing mouse models and novel approaches of mouse modeling for tauopathy.

Sahara N et al.

Frontiers in Neuroscience, 2023

APOE in the bullseye of neurodegenerative diseases: impact of the APOE genotype in Alzheimer's disease pathology and brain diseases.

Fernández-Calle R et al.

Molecular Neurodegeneration, 2022

Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain.

Lee Y et al.

Brain : a Journal of Neurology, 2022

Loss of tau expression attenuates neurodegeneration associated with α-synucleinopathy.

Vermilyea SC et al.

Translational Neurodegeneration, 2022

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P62 accumulates through neuroanatomical circuits in response to tauopathy propagation.

Blaudin de Thé FX et al.

Acta Neuropathologica Communications, 2021

Generation and Characterization of Novel Monoclonal Antibodies Targeting p62/sequestosome-1 Across Human Neurodegenerative Diseases.

Trejo-Lopez JA et al.

Journal of Neuropathology and Experimental Neurology, 2020

Intracerebral Expression of AAV-APOE4 Is Not Sufficient to Alter Tau Burden in Two Distinct Models of Tauopathy.

Koller EJ et al.

Molecular Neurobiology, 2020

β-Arrestin2 oligomers impair the clearance of pathological tau and increase tau aggregates.

Woo JA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Therapeutic Approaches to Alzheimer's Disease Through Modulation of NRF2.

Bahn G et al.

Neuromolecular Medicine, 2019

Tau Fibril Formation in Cultured Cells Compatible with a Mouse Model of Tauopathy.

Matsumoto G et al.

International Journal of Molecular Sciences, 2018

High-Molecular-Weight Paired Helical Filaments from Alzheimer Brain Induces Seeding of Wild-Type Mouse Tau into an Argyrophilic 4R Tau Pathology in Vivo.

Audouard E et al.

The American Journal of Pathology, 2016

Tauopathy induced by low level expression of a human brain-derived tau fragment in mice is rescued by phenylbutyrate.

Bondulich MK et al.

Brain : a Journal of Neurology, 2016

Tau phosphorylation affects its axonal transport and degradation.

Rodríguez-Martín T et al.

Neurobiology of Aging, 2013

Stimulation of autophagy is neuroprotective in a mouse model of human tauopathy.

Schaeffer V et al.

Autophagy, 2012

Stimulation of autophagy reduces neurodegeneration in a mouse model of human tauopathy.

Schaeffer V et al.

Brain : a Journal of Neurology, 2012

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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."