Mostrando 10 resultados de: 26
Área temáticas
Enfermedades(22)
Farmacología y terapéutica(14)
Bioquímica(8)
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Fisiología y materias afines(6)
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., J. C. Martínez, Kabil O., M. De Lucca, Marisel De Lucca, Martínez J.C.Fuentes:googlescopusCharacterization of cystathionine β-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6
OtherAbstract: This study describes for the first time the cystathionine β-synthase (CBS) gene mutations in VenezuePalabras claves:Cystathionine β-synthase, Homocystinuria, Mutation analysis, Single-strand conformational polymorphism, VENEZUELAAutores:Casique L., M. De Lucca, Marisel De LuccaFuentes:googlescopusA novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family
ArticleAbstract: Classic Galactosemia (OMIM 230400) is an autosomal recessive disorder of galactose metabolism causedPalabras claves:Ecuadorian GALT mutation, GALACTOSEMIA, HRM, In silico study, Inborn error of galactose metabolism, Splicing mutationAutores:C. Barba, Casique L., M. De Lucca, Marisel De LuccaFuentes:googlescopusSpectrum and origin of phenylketonuria mutations in Spain
OtherAbstract: In order to characterize the molecular heterogeneity of phenylalanine hydroxylase deficiencies in thPalabras claves:Autores:Marisel De LuccaFuentes:googleThe 1, 2, 3 of laboratory animal experimentation
ReviewAbstract: The slow scientific development in Latin America in recent decades has delayed the incorporation ofPalabras claves:Animal experimentation, Animal use alternatives, animal welfare, BIOETHICS, Transgenic miceAutores:Ana Lucía Ruano, García-Rodríguez J., M. De Lucca, María García-Barceló, Marisel De Lucca, Rivera-Cervantes M.C., Soledad Sánchez-Mateos, W. Romero-Fernandez, Zenia Batista CastroFuentes: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:googlescopusAmiodarone and Miltefosine Act Synergistically against Leishmania mexicana and Can Induce Parasitological Cure in a Murine Model of Cutaneous Leishmaniasis
OtherAbstract: Leishmaniasis is parasitic disease that is an important problem of public health worldwide. IntramusPalabras claves:Autores:Benaím G., Juan Carlos Martinez, M. De Lucca, Marisel De Lucca, Martínez J.C., Mendoza-León A., Payares G., Serrano-Martín X.Fuentes:googlescopusEl 1, 2, 3 de la experimentación con animales de laboratorio
OtherAbstract: El lento desarrollo científico experimentado en América Latina en las últimas décadas ha retrasado lPalabras claves:Autores:Marisel De LuccaFuentes:googleDescarte neonatal (" screening") de hipotiroidismo congenito primario e hiperfenilalaninemias
OtherAbstract: La aplicación de pruebas de selección masiva (screening), a muestras de sangre y orina obtenidas y aPalabras claves:Autores:Marisel De LuccaFuentes:googleEffect of the S349L PKU mutation on the folding, stability and activity of the PAH protein
OtherAbstract:Palabras claves:Autores:Marisel De LuccaFuentes:google