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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:googlescopusEvidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.
OtherAbstract: Phenylketonuria mutation V388M is frequent in the Iberian Peninsula. In vitro, the V388M mutant enzyPalabras 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:googleIdentificacion de una nueva mutacion en el exon 1 del gen fenilalanina hidroxilasa (pah).
OtherAbstract: La Fenilcetonuria clásica (PKU, MIM# 261600) comprende un error innato del metabolismo causado por lPalabras claves:Autores:Marisel De LuccaFuentes:googleIndependent origin for m. 3243A> G mitochondrial mutation in three Venezuelan cases of MELAS syndrome
OtherAbstract: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multiPalabras 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:googleUSING HIGH RESOLUTION MELTING FOR MUTATION SCANNING ON PAH, GALT, GCDH, AND CBS GENES
OtherAbstract:Palabras claves:Autores:Marisel De LuccaFuentes:google