Article
In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.
Gene - 25 Jul 2013
McCorvie Thomas J, Timson David J
Abstract excerpt
The enzyme UDP-galactose 4'-epimerase (GALE) catalyses the reversible epimerisation of both UDP-galactose and UDP-N-acetyl-galactosamine. Deficiency of the human enzyme (hGALE) is associated with type III galactosemia. The majority of known mutations in hGALE are missense and private thus making clinical guidance difficult. In this study a bioinformatics approach was employed to analyse the structural effects due...
Topics
- Amino Acid Sequence
- Computational Biology
- Databases, Genetic
- Enzyme Activation
- Enzyme Stability
- Galactosemias
- Genetic Predisposition to Disease
- Humans
- Models, Molecular
- Molecular Sequence Data
- Mutation, Missense
- Polymorphism, Single Nucleotide
- Predictive Value of Tests