Conditional promoters for analysis of essential genes in Zymoseptoria tritici.
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
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.
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.
Galactosemia: when is it a newborn screening emergency?
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.
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.
Toward Improved Therapy for Classic Galactosemia
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.
Galactosemia: evidence for a structural gene mutation.
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.