Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism

Keyphrases

• Neuroaxonal Dystrophy 100%
• Catalytic Function 100%
• PLA2G6 100%
• Dystonia-parkinsonism 100%
• Neurodegeneration with Brain Iron Accumulation 75%
• Phospholipids 62%
• Lysophospholipids 37%
• Disease Phenotype 37%
• Free Fatty Acids 25%
• Specific Activity 25%
• Catalytic Activity 25%
• PLA2G6 Gene 25%
• Neurodegeneration 12%
• Recombinant 12%
• Mutant Protein 12%
• Background mutations 12%
• Clinical Syndromes 12%
• Autosomal Recessive 12%
• Neurodegenerative Diseases 12%
• Parkinsonian 12%
• Fatty Acid Release 12%
• In Vitro Assay 12%
• Enzyme Activity 12%
• Regulatory Mechanism 12%
• Movement Disorders 12%
• Sn-2 12%
• Calcium-independent Phospholipase A2 12%
• Lipid Substrate 12%
• Histopathological Study 12%
• Phospholipase 12%
• Acyl Chain 12%
• Lysophospholipase 12%
• Mechanistic Explanation 12%
• Substrate Preference 12%
• Neuroaxonal Spheroids 12%

Neuroscience

• Parkinsonism 100%
• Dystonia 100%
• Pantothenate Kinase-Associated Neurodegeneration 100%
• Phospholipid 83%
• Lysophospholipid 50%
• Free Fatty Acids 33%
• Neurodegeneration 16%
• In Vitro 16%
• Neurodegenerative Disorder 16%
• Fatty Acids 16%
• Enzyme Activity 16%
• Stereotypic Movement Disorder 16%
• Mutant Protein 16%
• Phospholipase 16%
• Calcium Independent Phospholipase A2 16%
• Lysophospholipase 16%

Biochemistry, Genetics and Molecular Biology

• Catalysis 100%
• PLA2G6 100%
• Phospholipid 50%
• Enzyme 20%
• Enzymatic Hydrolysis 20%
• Free Fatty Acids 20%
• Enzymatic Activity 20%
• Mutant Protein 10%
• Lipid 10%
• Enzyme Activity 10%
• Phospholipase 10%
• Phospholipase A2 10%
• Autosomal Recessive Inheritance 10%
• Tumor Spheroid 10%
• Lysophospholipase 10%