Varaico: Literature-Extracted Genetic Variants

Gene:HTT
Variant:p.P301S
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HTT

NM_001388492.1:p.P301S

Associated Papers

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

Croce KR et al.

Neuron, 2025

DNAJB8 oligomerization is mediated by an aromatic-rich motif that is dispensable for substrate activity.

Ryder BD et al.

Structure (london, England : 1993), 2024

Fully Human Bifunctional Intrabodies Achieve Graded Reduction of Intracellular Tau and Rescue Survival of MAPT Mutation iPSC-derived Neurons.

D'Brant L et al.

Biorxiv : the Preprint Server for Biology, 2024

An astrocyte BMAL1-BAG3 axis protects against alpha-synuclein and tau pathology.

Sheehan PW et al.

Neuron, 2023

The chaperone Clusterin in neurodegeneration-friend or foe?

Yuste-Checa P et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2022

Apolipoprotein E4 Reduction with Antisense Oligonucleotides Decreases Neurodegeneration in a Tauopathy Model.

Litvinchuk A et al.

Annals of Neurology, 2021

Age dependent trans-cellular propagation of human tau aggregates in Drosophila disease models.

Aqsa et al.

Brain Research, 2021

Modulating TRADD to restore cellular homeostasis and inhibit apoptosis.

Xu D et al.

Nature, 2020

Endosomal-Lysosomal Processing of Neurodegeneration-Associated Proteins in Astrocytes.

Wong CO

International Journal of Molecular Sciences, 2020

The cargo receptor SQSTM1 ameliorates neurofibrillary tangle pathology and spreading through selective targeting of pathological MAPT (microtubule associated protein tau).

Xu Y et al.

Autophagy, 2019

Autophagy-Mediated Secretory Pathway is Responsible for Both Normal and Pathological Tau in Neurons.

Kang S et al.

Journal of Alzheimer's Disease : Jad, 2019

Tau: A Common Denominator and Therapeutic Target for Neurodegenerative Disorders.

Maxan A et al.

Journal of Experimental Neuroscience, 2018

Reduction of Nuak1 Decreases Tau and Reverses Phenotypes in a Tauopathy Mouse Model.

Lasagna-Reeves CA et al.

Neuron, 2016

TDP-43 in amyotrophic lateral sclerosis - is it a prion disease?

Ludolph AC et al.

European Journal of Neurology, 2015

Abnormal interaction of VDAC1 with amyloid beta and phosphorylated tau causes mitochondrial dysfunction in Alzheimer's disease.

Manczak M et al.

Human Molecular Genetics, 2012

Astrocytic neuroprotection through induction of cytoprotective molecules; a proteomic analysis of mutant P301S tau-transgenic mouse.

Yata K et al.

Brain Research, 2011

Progressive white matter pathology in the spinal cord of transgenic mice expressing mutant (P301L) human tau.

Lin WL et al.

Journal of Neurocytology, 2005

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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."