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Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 10/2012, Volume 1822, Issue 10, pp. 1516 - 1526
Deficiency of UDP-galactose 4′-epimerase is implicated in type III galactosemia. Two variants, p.K161N-hGALE and p.D175N-hGALE, have been previously found in... 
GALE | Disease-associated mutation | Differential scanning fluorimetry | UDP-galactose 4′-epimerase | Type III galactosemia | Yeast model | UDP-galactose 4'-epimerase | UDP-galactose 4 '-epimerase | MOLECULAR-BIOLOGY | URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE | PHARMACOLOGICAL CHAPERONES | CRYSTAL-STRUCTURE | BIOCHEMISTRY & MOLECULAR BIOLOGY | EPIMERASE-DEFICIENCY GALACTOSEMIA | ESCHERICHIA-COLI | FUNCTIONAL-CHARACTERIZATION | BIOPHYSICS | LELOIR PATHWAY | HUMAN UDP-GALACTOSE-4-EPIMERASE | AEROMONAS-HYDROPHILA | Galactose - metabolism | Protein Binding - genetics | Coenzymes - genetics | Peptide Hydrolases - genetics | Humans | Protein Multimerization | Structure-Activity Relationship | Coenzymes - metabolism | Galactosemias - genetics | UDPglucose 4-Epimerase - genetics | Escherichia coli - metabolism | Protein Denaturation | Uridine Diphosphate N-Acetylglucosamine - genetics | NAD - metabolism | Peptide Hydrolases - metabolism | Uridine Diphosphate N-Acetylglucosamine - metabolism | Yeasts - metabolism | Recombinant Proteins - metabolism | NAD - genetics | Galactosemias - enzymology | Models, Molecular | UDPglucose 4-Epimerase - chemistry | Recombinant Proteins - genetics | Galactose - genetics | Protein Structure, Secondary - genetics | Yeasts - genetics | Escherichia coli - genetics | Alleles | Kinetics | UDPglucose 4-Epimerase - metabolism | Fungal Proteins - metabolism | Purines | Niacinamide | Glucose | Galactose | Analysis | Dextrose
Journal Article
Journal Article
RSC Advances, ISSN 2046-2069, 2016, Volume 6, Issue 21, pp. 17297 - 17301
UDP-galactose 4'-epimerase (GALE) is an essential enzyme in galactose metabolism and its dysfunction results in type III galactosemia. Herein we report a... 
GALE | VARIANTS | URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE | ACTIVE-SITE | 4-EPIMERASE | STABILITY | EPIMERASE-DEFICIENCY GALACTOSEMIA | FUNCTIONAL-ANALYSIS | UDP-GALACTOSE-4-EPIMERASE | INTERMEDIATE | CHEMISTRY, MULTIDISCIPLINARY | Binding | Mutations | Enzymes | Mathematical models | Galactose | Patients | Bioinformatics | Blood
Journal Article
Journal Article
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, ISSN 1107-3756, 2013, Volume 32, pp. S5 - S5
Conference Proceeding
JOURNAL OF BIOLOGICAL CHEMISTRY, 12/2015, Volume 290, Issue 49, pp. 29167 - 29177
Conversion of vitamin B-12 (cobalamin, Cbl) into the cofactor forms methyl-Cbl (MeCbl) and adenosyl-Cbl (AdoCbl) is required for the function of two crucial... 
CBLD DEFECT | DOMAIN | ISOFORMS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISORDERS | DEFICIENCY | FEATURES | REVEALS
Journal Article