Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.
Marín-Quílez A et al.
Platelets, 2023
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
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
The molecular basis of galactosemia - Past, present and future.
Timson DJ
Gene, 2016
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
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
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
In vivo and in vitro function of human UDP-galactose 4'-epimerase variants.
McCorvie TJ et al.
Biochimie, 2011
Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.
Bang YL et al.
The Febs Journal, 2009
The structural and molecular biology of type III galactosemia.
Timson DJ
Iubmb Life, 2006
Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase.
Timson DJ
The Febs Journal, 2005
Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia.
Wasilenko J et al.
Molecular Genetics and Metabolism, 2005
A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia.
Henderson JM et al.
Clinical Genetics, 2001
Crystallographic evidence for Tyr 157 functioning as the active site base in human UDP-galactose 4-epimerase.
Thoden JB et al.
Biochemistry, 2000
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
Wohlers TM et al.
American Journal of Human Genetics, 1999
Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.
Alano A et al.
Journal of Inherited Metabolic Disease, 1998
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
Quimby BB et al.
American Journal of Human Genetics, 1997
The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.
Park HD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0