Article
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
American journal of human genetics - 1 Sept 1997
Quimby B B, Alano A, Almashanu S, DeSandro A M, Cowan T M, Fridovich-Keil J L
Abstract excerpt
UDP-galactose-4-epimerase (GALE) is a highly conserved enzyme that catalyzes the interconversion of UDP-galactose and UDP-glucose. Impairment of this enzyme in humans results in one of two clinically distinct forms of epimerase-deficiency galactosemia-one benign, the other severe. The molecular a...
Topics
- Alleles
- Cell Line, Transformed
- Child, Preschool
- Erythrocytes
- Female
- Galactosemias
- Gene Expression
- Humans
- Kinetics
- Lymphocytes
- Male
- NAD
- Pedigree
- Point Mutation
- Recombinant Proteins
- Saccharomyces cerevisiae