Varaico: Literature-Extracted Genetic Variants

Gene:KHDRBS1
Variant:p.P301L
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KHDRBS1

NM_006559.3:p.P301L

Associated Papers

Gaultheria leucocarpa inhibits Aβ fibrillization and enhances mitophagy-mediated degradation of pathogenic proteins.

Zhang Y et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025

Comorbid pathologies and their impact on progressive supranuclear palsy: current view.

Jellinger KA

Journal of Neural Transmission (vienna, Austria : 1996), 2025

Protein modification in neurodegenerative diseases.

Ramazi S et al.

Medcomm, 2024

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

Zheng H et al.

International Journal of Molecular Sciences, 2024

Tau regulates Arc stability in neuronal dendrites via a proteasome-sensitive but ubiquitin-independent pathway.

Yakout DW et al.

The Journal of Biological Chemistry, 2024

38552740 (PubMed )
Supplement: mmc1.docx

Pathogenic tau recruits wild-type tau into brain inclusions and induces gut degeneration in transgenic SPAM mice.

Xia Y et al.

Communications Biology, 2022

Zinc enhances autophagic flux and lysosomal function through transcription factor EB activation and V-ATPase assembly.

Kim KR et al.

Frontiers in Cellular Neuroscience, 2022

P62 accumulates through neuroanatomical circuits in response to tauopathy propagation.

Blaudin de Thé FX et al.

Acta Neuropathologica Communications, 2021

Regulatory Role of Ubiquitin Specific Protease-13 (USP13) in Misfolded Protein Clearance in Neurodegenerative Diseases.

Liu X et al.

Neuroscience, 2021

SFPQ and Tau: critical factors contributing to rapid progression of Alzheimer's disease.

Younas N et al.

Acta Neuropathologica, 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

Globular glial tauopathy caused by MAPT P301T mutation: clinical and neuropathological findings.

Erro ME et al.

Journal of Neurology, 2019

Dysregulation of autophagy and stress granule-related proteins in stress-driven Tau pathology.

Silva JM et al.

Cell Death and Differentiation, 2019

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

Matsumoto G et al.

International Journal of Molecular Sciences, 2018

Bexarotene targets autophagy and is protective against thromboembolic stroke in aged mice with tauopathy.

Huuskonen MT et al.

Scientific Reports, 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

Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.

Irwin DJ et al.

Acta Neuropathologica, 2015

Frontotemporal lobar degeneration: diversity of FTLD lesions.

Seilhean D et al.

Revue Neurologique, 2013

Neuropathological background of phenotypical variability in frontotemporal dementia.

Josephs KA et al.

Acta Neuropathologica, 2011

White matter lesions in the brain with frontotemporal lobar degeneration with motor neuron disease: TDP-43-immunopositive inclusions co-localize with p62, but not ubiquitin.

Hiji M et al.

Acta Neuropathologica, 2008

PTK2 regulates tau-induced neurotoxicity via phosphorylation of p62 at Ser403.

Lee S et al.

Journal of Neurogenetics, 0

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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."