Varaico: Literature-Extracted Genetic Variants

Gene:HTT
Variant:p.Q18L
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HTT

NM_001388492.1:p.Q18L

Associated Papers

Mitophagy in the pathogenesis and management of disease.

Wang Q et al.

Cell Research, 2026

Protein aggregation in neurodegenerative diseases.

Wang J et al.

Chinese Medical Journal, 2025

G6PD deficiency triggers dopamine loss and the initiation of Parkinson's disease pathogenesis.

Stykel MG et al.

Cell Reports, 2025

Mechanism and Clinical Application Prospects of Mitochondrial DNA Single Nucleotide Polymorphism in Neurodegenerative Diseases.

Xu M et al.

Neurochemical Research, 2024

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

Sidoryk-Węgrzynowicz M et al.

International Journal of Molecular Sciences, 2024

TOLLIP acts as a cargo adaptor to promote lysosomal degradation of aberrant ER membrane proteins.

Hayashi Y et al.

The Embo Journal, 2023

37929762 (PubMed )
Supplement: EMBJ-42-e114272-s006.pdf

Effects of Mutations and Post-Translational Modifications on α-Synuclein In Vitro Aggregation.

Pancoe SX et al.

Journal of Molecular Biology, 2022

Protein Misfolding and Aggregation: The Relatedness between Parkinson's Disease and Hepatic Endoplasmic Reticulum Storage Disorders.

Padilla-Godínez FJ et al.

International Journal of Molecular Sciences, 2021

Treating Parkinson's Disease with Antibodies: Previous Studies and Future Directions.

Castonguay AM et al.

Journal of Parkinson's Disease, 2021

Targeting of Lysosomal Pathway Genes for Parkinson's Disease Modification: Insights From Cellular and Animal Models.

Abe T et al.

Frontiers in Neurology, 2021

Alpha-synuclein at the intracellular and the extracellular side: functional and dysfunctional implications.

Ottolini D et al.

Biological Chemistry, 2017

Hederagenin and α-hederin promote degradation of proteins in neurodegenerative diseases and improve motor deficits in MPTP-mice.

Wu AG et al.

Pharmacological Research, 2017

Autophagy and Alpha-Synuclein: Relevance to Parkinson's Disease and Related Synucleopathies.

Xilouri M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2016

Familial Parkinson disease-associated mutations alter the site-specific microenvironment and dynamics of α-synuclein.

Sahay S et al.

The Journal of Biological Chemistry, 2015

Neferine attenuates the protein level and toxicity of mutant huntingtin in PC-12 cells via induction of autophagy.

Wong VK et al.

Molecules (basel, Switzerland), 2015

Macroautophagy in sporadic and the genetic form of Parkinson's disease with the A53T α-synuclein mutation.

Huang Y et al.

Translational Neurodegeneration, 2012

Common features at the start of the neurodegeneration cascade.

Hervás R et al.

Plos Biology, 2012

Inhibition of α-synuclein aggregation by small heat shock proteins.

Bruinsma IB et al.

Proteins, 2011

Genetic LRRK2 models of Parkinson's disease: Dissecting the pathogenic pathway and exploring clinical applications.

Yue Z et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2011

Alpha-synuclein targets the plasma membrane via the secretory pathway and induces toxicity in yeast.

Dixon C et al.

Genetics, 2005

Pathogenic effects of alpha-synuclein aggregation.

Lundvig D et al.

Brain Research. Molecular Brain Research, 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."