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Molecular Nutrition Carbohydrates(1)
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Characterization of two pathogenic mutations in cystathionine beta-synthase: Different intracellular locations for wild-type and mutant proteins
ArticleAbstract: Cystathionine β-synthase (CBS) is a pyridoxal 5'-phosphate (PLP)-dependent enzyme that catalyzes thePalabras claves:Cystathionine beta-synthase, Homocystinuria, immunocytochemistry, Protein misfoldingAutores:Banerjee R., Casique L., Kabil O., M. De Lucca, Marisel De Lucca, Martínez J.C.Fuentes:googlescopusAlterations of galactose metabolism caused by deficit of galactose-1-phosphate uridylyltransferase activity: An overview of galactosemia type I
Book PartAbstract: Galactosemia type I is caused by a deficiency of the galactose-1-phosphate uridylyltransferase enzymPalabras claves:Duarte variant, Galactitol, galactose, Galactose-1-phosphate uridylyltransferase, GALACTOSEMIA, Galactosemia treatment, Glycosylation, Misfolding, p.Q188R mutation, Soy productsAutores:Casique L., Cornejo V., M. De Lucca, Marisel De LuccaFuentes:googlescopusEffect of the S349L PKU mutation on the folding, stability and activity of the PAH protein
OtherAbstract:Palabras claves:Autores:Marisel De LuccaFuentes:googleIMMUNOFLUORESCENCE MICROSCOPY IS A USEFUL TOOL FOR EVALUATING THE EXPRESSION OF MUTANT CBS PROTEINS IN EUKARYOTIC CELLS
OtherAbstract:Palabras claves:Autores:Marisel De LuccaFuentes:googleMolecular basis of phenylketonuria in Venezuela: presence of two novel null mutations
OtherAbstract: This report describes the mutational spectrum and linked haplotypes of the phenylalanine hydroxylasePalabras claves:Autores:Marisel De LuccaFuentes:googleMolecular characterization of phenylalanine hydroxylase deficiency in Chile
OtherAbstract: Both the haplotype distribution and the mutational spectrum of the phenylalanine hydroxylase (PAH) gPalabras claves:Autores:Marisel De LuccaFuentes:google