The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy

Keyphrases

• Parkin 100%
• Mitophagy 100%
• Genetic Modifiers 100%
• Age of Onset 60%
• ATXN3 40%
• Molecular Pathogenesis 40%
• Cell Viability 20%
• Functional Analysis 20%
• Disease-associated 20%
• Genetic Factors 20%
• Parkinson's Disease 20%
• Spinocerebellar Ataxia 20%
• Autosomal Dominant 20%
• ATXN3 Gene 20%
• CAG Repeat Expansion 20%
• E3 Ubiquitin Ligase 20%
• Disease Groups 20%
• Correlation Analysis 20%
• Interaction Partner 20%
• Autophagic 20%
• Molecular Disorder 20%
• Neurodegenerative 20%
• Missense Single nucleotide Polymorphism 20%
• Deubiquitinase 20%
• PRKN Gene 20%
• Disease-related Proteins 20%
• Polyglutamine 20%
• Polymorphisms Variants 20%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Mitophagy 100%
• Ataxin 3 100%
• Genetic Determinism 50%
• Autosomal Dominant Inheritance 50%
• CAG Repeat 50%
• Ubiquitin-Conjugating Enzyme 50%
• Single-Nucleotide Polymorphism 50%
• Cell Viability 50%
• Candidate Gene 50%
• Missense 50%