Associated Papers
Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.
Kumar SU et al.
Cell Biochemistry and Biophysics, 2021
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Febres-Aldana CA et al.
Molecular Syndromology, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding.
Pey AL et al.
Archives of Biochemistry and Biophysics, 2014
Comparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia.
Timson DJ et al.
Gene, 2013
In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.
McCorvie TJ et al.
Gene, 2013
Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.
McCorvie TJ et al.
Biochimica Et Biophysica Acta, 2012
The structural and molecular biology of type III galactosemia.
Timson DJ
Iubmb Life, 2006
Epimerase-deficiency galactosemia is not a binary condition.
Openo KK et al.
American Journal of Human Genetics, 2006
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