Associated Papers
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
McCorvie TJ et al.
Human Molecular Genetics, 2016
27005423 (PubMed )
Supplement: supp_ddw091_SupplementaryInformation.pdf
Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.
Tang M et al.
Human Mutation, 2012
Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach.
Facchiano A et al.
Protein Engineering, Design & Selection : Peds, 2010
Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.
Calderon FR et al.
Human Mutation, 2007
Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.
Calderon FR et al.
Journal of Inherited Metabolic Disease, 2007
Genetic approaches to biochemical questions: insights into the functional requirements of proline 185 in the active site of human galactose-1-phosphate uridylyltransferase.
Quimby BB et al.
Saas Bulletin, Biochemistry and Biotechnology, 1997
Functional requirements of the active site position 185 in the human enzyme galactose-1-phosphate uridylyltransferase.
Quimby BB et al.
The Journal of Biological Chemistry, 1996
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