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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., 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:googlescopusThe 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:googlescopusGlucocerebrosidase mutations are also found in subjects with early‐onset parkinsonism from Venezuela
OtherAbstract:Palabras claves:Autores:Eblan M.J., Gallardo M., Hanson M., Lwin A., M. De Lucca, Marisel De Lucca, Michael J. Eblan, Nguyen J., Sidransky E., Singleton A., Weiser R., Ziegler S.G.Fuentes:googlescopusClinical findings and mutational spectrum in Venezuelan patients with delayed diagnosis of phenylketonuria
ArticleAbstract: Introduction. Massive neonatal screening for phenylketonuria (PKU) began in developed countries in 1Palabras claves:Delayed diagnosis, Genotype/phenotype, Neonatal study, PKU, Psychomotor retardationAutores:A. R. Colmenares, Araujo K., Arias I., Bottaro M., Carmen Luisa Domínguez, Casique L., Colmenares A.R., Domínguez C.L., López M.E., M. De Lucca, M. E. López, Mahfoud A., Marisel De Lucca, Merzon R.M., Rodríguez T.Fuentes:googlescopusMELAS a clinically and genetically heterogeneous syndrome
OtherAbstract:Palabras claves:Heteroplasmy, m.3243A>G, m.3243A>G, MELAS, mitochondrial DNA, PhenotypeAutores:Casique L., Luis Ramírez J., M. De Lucca, Mahfoud A., Marisel De LuccaFuentes: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:Cornejo V., Desviat L.R., M. De Lucca, Marisel De Lucca, Perez B., Schmidt B., Ugarte M.Fuentes:googlescopus