In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: Towards a predictive framework for type III galactosemia

Keyphrases

• Type III Galactosemia 100%
• UDP-galactopyranose mutase 100%
• Mutation Effect 100%
• Predictive Framework 100%
• In Silico Prediction 100%
• UDP-galactose 100%
• Cofactor Binding 66%
• Enzyme Activity 33%
• Residual Activity 33%
• Combined Technique 33%
• Protein Function 33%
• Bioinformatics Methods 33%
• Missense 33%
• Protein Stability 33%
• Stability Change 33%
• N-acetylgalactosamine 33%
• Clinical Severity 33%
• Substrate Binding 33%
• In Silico Methods 33%
• UDP-glucose 33%
• Human Enzymes 33%
• UDP-GlcNAc 33%
• Overall Stability 33%
• Clinical Guidance 33%
• DbSNP 33%
• Structural Effect 33%
• Epimerization 33%

Biochemistry, Genetics and Molecular Biology

• Computer Model 100%
• Uridine Diphosphate Galactose 100%
• Enzyme 60%
• Uridine Diphosphate 40%
• Wild Type 20%
• N-Acetylglucosamine 20%
• Enzyme Activity 20%
• Protein Function 20%
• Missense 20%
• Protein Stability 20%
• Galactosamine 20%
• Uridine Diphosphate Glucose 20%
• Epimerization 20%
• In Vivo Study 20%

Pharmacology, Toxicology and Pharmaceutical Science

• Uridine Diphosphate Galactose 100%
• Uridine Diphosphate Glucose 4 Epimerase 100%
• Galactosemia 100%
• Uridine Diphosphate 66%
• Acetic Acid Derivative 33%
• N Acetylglucosamine 33%
• Galactosamine 33%
• Uridine Diphosphate Glucose 33%