Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.Q18L
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CAT

NM_001752.4:p.Q18L

Associated Papers

Alpha-Synuclein Neurobiology in Parkinson's Disease: A Comprehensive Review of Its Role, Mechanisms, and Therapeutic Perspectives.

Pitton Rissardo J et al.

Brain Sciences, 2025

α-Synuclein-dependent increases in PIP5K1γ drive inositol signaling to promote neurotoxicity.

Horvath JD et al.

Cell Reports, 2023

miRNA and antisense oligonucleotide-based α-synuclein targeting as disease-modifying therapeutics in Parkinson's disease.

Suvarna V et al.

Frontiers in Pharmacology, 2022

Different Effects of α-Synuclein Mutants on Lipid Binding and Aggregation Detected by Single Molecule Fluorescence Spectroscopy and ThT Fluorescence-Based Measurements.

Ruf VC et al.

Acs Chemical Neuroscience, 2019

Mitochondrial dysfunction and neurodegenerative proteinopathies: mechanisms and prospects for therapeutic intervention.

Briston T et al.

Biochemical Society Transactions, 2018

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

Dixon C et al.

Genetics, 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."