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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Galactose-1-phosphate uridylyltransferase

galactose-1-phosphate uridyltransferase, UDPglucose-Hexose-1-Phosphate Uridylyltransferase, galactose-1-phosphate uridylyltransferase
Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: GalT, galactokinase, CAN, HAD, AGE
Papers on galactose-1-phosphate uridyltransferase
Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.
Treacy et al., Dublin, Ireland. In Eur J Hum Genet, Feb 2016
UNASSIGNED: Classical galactosaemia (OMIM #230400), a rare disorder of carbohydrate metabolism, is caused by a deficient activity of galactose-1-phosphate uridyltransferase (EC
Using a Personal Glucose Meter and Alkaline Phosphatase for Point-of-Care Quantification of Galactose-1-Phosphate Uridyltransferase in Clinical Galactosemia Diagnosis.
Lu et al., Urbana, United States. In Chem Asian J, Oct 2015
To expand the technology to even broader targets and to validate its potential in authentic, more complex clinical samples, we herein report expansion of the PGM method by using alkaline phosphatase (ALP) that links the enzymatic activity of galactose-1-phosphate uridyltransferase to the production of glucose, which allows point-of-care galactosemia diagnosis in authentic human clinical samples.
IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia.
Treacy et al., Dublin, Ireland. In Jimd Rep, Oct 2015
UNASSIGNED: Classical galactosaemia (OMIM #230400) is a rare disorder of carbohydrate metabolism caused by deficiency of the galactose-1-phosphate uridyltransferase enzyme (EC
Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study.
Treacy et al., Dublin, Ireland. In Pediatr Res, Sep 2015
BACKGROUND: Classical galactosemia is caused by severe galactose-1-phosphate uridyltransferase deficiency.
Conditional promoters for analysis of essential genes in Zymoseptoria tritici.
Steinberg et al., Exeter, United Kingdom. In Fungal Genet Biol, Jun 2015
We fused the gene for enhanced green-fluorescent protein (egfp) to the promoter region of Z. tritici nitrate reductase (Pnar1; induced by nitrogen and repressed by ammonium), 1,4-β-endoxylanase A (Pex1A; induced by xylose and repressed by maltodextrin), l-arabinofuranosidase B (PlaraB; induced by arabinose and repressed by glucose), galactose-1-phosphate uridylyltransferase 7 (Pgal7; induced by galactose and repressed by glucose) and isocitrate lyase (Picl1; induced by sodium acetate and repressed by glucose).
Duarte Variant Galactosemia
Sharer et al., Seattle, United States. In Unknown Journal, 2015
Specifically, erythrocyte galactose-1-phosphate uridylyltransferase (GALT) enzyme activity is typically 14%-25% of control activity, and GALT genotyping reveals the presence of one pathogenic GALT variant in the heterozygous state together with a Duarte (D2) GALT allelic variant in either the heterozygous or homozygous state.
GALT protein database: querying structural and functional features of GALT enzyme.
Marabotti et al., Avellino, Italy. In Hum Mutat, 2014
Here, we present a new version of GALT Protein Database, a Web-accessible data repository for the storage and interrogation of structural effects of variations of the enzyme galactose-1-phosphate uridylyltransferase (GALT), the impairment of which leads to classic Galactosemia, a rare genetic disease.
Duarte galactose-1-phosphate uridyl transferase genotypes are not associated with ovarian cancer risk.
Tworoger et al., Boston, United States. In Fertil Steril, 2012
Duarte1 (D1) and D2 genotypes of GALT do not appear to play a role in the association between galactose intake, possible ovarian dysfunction, and the link with ovarian cancer
Galactosemia: when is it a newborn screening emergency?
Berry, Boston, United States. In Mol Genet Metab, 2012
Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism, due to a severe deficiency of the enzyme, galactose-1-phosphate uridyltransferase (GALT), that catalyzes the conversion of galactose-1-phosphate and uridine diphosphate glucose (UDPglucose) to uridine diphosphate galactose (UDPgalactose) and glucose-1-phosphate.
Innovative therapy for Classic Galactosemia - tale of two HTS.
Lai et al., Salt Lake City, United States. In Mol Genet Metab, 2012
Classic Galactosemia is an autosomal recessive disorder caused by the deficiency of galactose-1-phosphate uridylyltransferase (GALT), one of the key enzymes in the Leloir pathway of galactose metabolism.
Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations.
Tacke et al., Freiburg, Germany. In Acta Ophthalmol, 2011
Congenital eye abnormalities and galactosemia were found in a family with Q188R and G1391A mutations.
A case of classical galactosemia: identification and characterization of 3 distinct mutations in galactose-1-phosphate uridyl transferase (GALT) gene in a single family.
Kulkarni et al., Chandīgarh, India. In Indian J Pediatr, 2011
3 different GALT mutations viz. Q188R, N314D and S307X were found to be present in the family of a neonate diagnosed with galactosemia and having the heterozygote genotype Q188R/S307X. S307X is a novel GALT mutation linked to galactosemia.
The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population.
Anikster et al., Israel. In Mol Genet Metab, 2011
GALT deletion mutation carrier frequency was 1 in 127 (0.79%).
Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients.
Tõnisson et al., In J Inherit Metab Dis, 2010
live birth incidence of classical galactosemia in Estonia is 1:19.700
Toward Improved Therapy for Classic Galactosemia
Auld et al., Bethesda, United States. In Unknown Journal, 2010
Classic Galactosemia is a rare genetic metabolic disorder (1/60,000 births) that is characterized by decreased production of galactose-1-phosphate uridyltransferase (GALT), an enzyme responsible for the conversion of galactose-1-phosphate (gal-1-p) to glucose-1-phosphate.
Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia.
Segal et al., Philadelphia, United States. In Lancet, 1995
Despite restricted ingestion of lactose, patients with galactose-1-phosphate uridyltransferase deficiency have raised concentrations of galactose metabolites in blood and urine.
Galactokinase: evidence for a new racial polymorphism.
Mellman et al., In Science, 1972
Activities of galactokinase and galactose-1-phosphate uridyltransferase in red cells were assayed in a mixed racial population of 645 pregnant women.
Galactosemia: evidence for a structural gene mutation.
Mellman et al., In Science, 1971
Identical immunoprecipitin reactions appeared in double immunodiffusion between rabbit anltibodies to human galactose-1-phosphate uridyl transferase and red cell preparations from both normal and galactosemic individuals.
Dietary regulation of galactose-metabolizing enzymes: adaptive changes in rat jejunum.
Rosensweig et al., In Science, 1968
The effects of dietary galactose, sucrose, fructose, glucose, casein, and fasting upon the activity of four galactose-metabolizing enzymes (galactokinase, galactose-1-phosphate uridyltransferase, uridine diphosphate galactose 4-epimerase, and galactose dehydrogenase) were studied in the jejunum of rats.
Electrophoretic variation of galactose-1-phosphate uridyltransferase.
Beutler et al., In Science, 1967
A specific method for starch-gel electrophoresis of galactose-1-phosphate uridyltransferase has been developed.
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