Varaico: Literature-Extracted Genetic Variants

Gene:HTT
Variant:p.P301L
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HTT

NM_001388492.1:p.P301L

Associated Papers

Mining Alzheimer's Interactomes, Macromolecular Complexes and Pathways for Drug Discovery.

Panneerselvam K et al.

Proteomics, 2025

Targeting chaperone-mediated autophagy in neurodegenerative diseases: mechanisms and therapeutic potential.

Wu J et al.

Acta Pharmacologica Sinica, 2025

Targeting Protein Misfolding and Aggregation as a Therapeutic Perspective in Neurodegenerative Disorders.

Sidoryk-Węgrzynowicz M et al.

International Journal of Molecular Sciences, 2024

Site-specific phosphorylation of tau impacts mitochondrial function and response to stressors.

Isei MO et al.

Journal of Neurochemistry, 2024

Innate immune activation in neurodegenerative diseases.

Castro-Gomez S et al.

Immunity, 2024

The complement system in neurodegenerative diseases.

Nimmo J et al.

Clinical Science (london, England : 1979), 2024

Aberrant splicing exonizes C9ORF72 repeat expansion in ALS/FTD.

Yang S et al.

Biorxiv : the Preprint Server for Biology, 2023

Aggregation-prone Tau impairs mitochondrial import, which affects organelle morphology and neuronal complexity.

Needs HI et al.

Journal of Cell Science, 2023

Glycosylation and behavioral symptoms in neurological disorders.

Pradeep P et al.

Translational Psychiatry, 2023

Site-specific phosphorylation of tau impacts mitochondrial biology and response to stressors.

Isei MO et al.

Biorxiv : the Preprint Server for Biology, 2023

Loss-of-function and gain-of-function studies refute the hypothesis that tau protein is causally involved in the pathogenesis of Huntington's disease.

Mees I et al.

Human Molecular Genetics, 2022

O-GlcNAcylation in health and neurodegenerative diseases.

Lee BE et al.

Experimental & Molecular Medicine, 2021

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

The role of Nrf2 signaling in counteracting neurodegenerative diseases.

Dinkova-Kostova AT et al.

The Febs Journal, 2018

Untangling the Tauopathy for Alzheimer's disease and parkinsonism.

Chang HY et al.

Journal of Biomedical Science, 2018

RNA Editing Deficiency in Neurodegeneration.

Lorenzini I et al.

Advances in Neurobiology, 2018

Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?

De Vos KJ et al.

Neurobiology of Disease, 2017

The mTOR signalling cascade: paving new roads to cure neurological disease.

Crino PB

Nature Reviews. Neurology, 2016

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

Inhibition of Sirtuin 2 with Sulfobenzoic Acid Derivative AK1 is Non-Toxic and Potentially Neuroprotective in a Mouse Model of Frontotemporal Dementia.

Spires-Jones TL et al.

Frontiers in Pharmacology, 2012

Methylene blue fails to inhibit Tau and polyglutamine protein dependent toxicity in zebrafish.

van Bebber F et al.

Neurobiology of Disease, 2010

Development of a grape seed polyphenolic extract with anti-oligomeric activity as a novel treatment in progressive supranuclear palsy and other tauopathies.

Pasinetti GM et al.

Journal of Neurochemistry, 2010

Proteomic analysis of mitochondrial dysfunction in neurodegenerative diseases.

Rodolfo C et al.

Expert Review of Proteomics, 2010

LRRK2 and neurodegeneration.

Santpere G et al.

Acta Neuropathologica, 2009

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

Lin WL et al.

Journal of Neurocytology, 2005

Progressive neurodegeneration in C. elegans model of tauopathy.

Miyasaka T et al.

Neurobiology of Disease, 2005

In vivo analysis of wild-type and FTDP-17 tau transgenic mice.

Götz J et al.

Annals of the New York Academy of Sciences, 2000

Filamentous nerve cell inclusions in neurodegenerative diseases: tauopathies and alpha-synucleinopathies.

Goedert M

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 1999

[Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP 17)].

Nakano I

Ryoikibetsu Shokogun Shirizu, 1999

Context dependent neuroprotective properties of prion protein (PrP).

Steele AD et al.

Prion, 0

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