The molecular basis of aminoacylase 1 deficiency

Biochemistry, Genetics and Molecular Biology

• Enzyme 100%
• Amino Acids 100%
• Western Blot 33%
• Wild Type 33%
• Enzyme Activity 33%
• Escherichia coli 33%
• Autosomal Recessive Inheritance 33%
• Acetic Acid 33%
• Posttranslational Modification 33%
• Methionine 33%
• Missense Mutation 33%
• Site-Directed Mutagenesis 33%
• Enzyme Binding 33%
• Inborn Error of Metabolism 33%
• Enzymatic Hydrolysis 33%
• Psychomotor Development 33%

Keyphrases

• Acylase 100%
• Aminoacylase 1 Deficiency 100%
• N-acetylneuraminic Acid 20%
• Western Blot Analysis 10%
• HEK293 Cells 10%
• Clinical Significance 10%
• Fold Increase 10%
• Enzyme Activity 10%
• Missense mutation 10%
• High Affinity 10%
• Escherichia Coli 10%
• Expression Study 10%
• Autosomal Recessive 10%
• Long-term Consequences 10%
• Human Cell Lines 10%
• Post-translational Modification 10%
• Overexpressing 10%
• Overexpression 10%
• Acetic Acid 10%
• Intellectual Disability 10%
• Site-directed mutagenesis 10%
• Molecular Characteristics 10%
• N-acetylation 10%
• HEK293 10%
• Febrile Seizures 10%
• Residual Activity 10%
• Psychomotor Development 10%
• Inborn Errors of Metabolism 10%
• Free Amino Acids 10%
• N-acetyl-L-methionine 10%
• Enzyme Function 10%
• Zinc Binding 10%
• Neurological Findings 10%