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	Provedor de dados BJMBR (3) Autor Coelho,J.C. (3) Giugliani,R. (2) Baldo,G. (1) Balestrin,R.C. (1) Matte,U. (1) Oliveira,G. (1) Parzianello,L. (1) Sano,R. (1) Scalco,F.B. (1) Tobo,P. (1) Vieira,M.B. (1) Mais... Palavra-chave Apolipoprotein CIII (1) Cholesterol metabolism (1) GM1 gangliosidosis (1) Gene therapy (1) Japanese population (1) Lipofectamine (1) Lysosomal storage disorder (1) Lysosomal storage disorders (1) Niemann-Pick disease (1) SS-galactosidase deficiency (1) Sphingomyelinase (1) SstI polymorphism (1) Triglycerides (1) Mais... Tipo do documento Info:eu-repo/semantics/article (3) Ano 2008 (2) 1999 (1) País Brazil (3) Idioma Inglês (3)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 3 Primeira ... 1 ... Última Apolipoprotein CIII polymorphism and triglyceride levels of a Japanese population living in Southern Brazil BJMBR Parzianello,L.; Oliveira,G.; Coelho,J.C.. Apolipoprotein CIII (apo-CIII) participates in the regulation of triglyceride-rich lipoprotein metabolism. Several polymorphic sites have been detected within and around the apo-CIII gene. Here, we examined the relationship between apo-CIII SstI polymorphism (CC, CG, GG genotypes) and plasma triglyceride (TG) levels in a group of 159 Japanese individuals living in Southern Brazil. The sample was divided into a group of Japanese descendants (N = 51) with high TG (HTG; >200 mg/dL) and a group of Japanese descendants (N = 108) with normal TG (NTG; <200 mg/dL). TG and total cholesterol levels were analyzed by an enzymatic method using the Labtest-Diagnostic kit and high- and low-density lipoproteins by a direct method using the Labtest-Diagnostic kit and... Tipo: Info:eu-repo/semantics/article Palavras-chave: Triglycerides; SstI polymorphism; Apolipoprotein CIII; Japanese population. Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000600004 Transient high-level expression of ß-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA BJMBR Balestrin,R.C.; Baldo,G.; Vieira,M.B.; Sano,R.; Coelho,J.C.; Giugliani,R.; Matte,U.. GM1 gangliosidosis is an autosomal recessive disorder caused by the deficiency of lysosomal acid hydrolase ß-galactosidase (ß-Gal). It is one of the most frequent lysosomal storage disorders in Brazil, with an estimated frequency of 1:17,000. The enzyme is secreted and can be captured by deficient cells and targeted to the lysosomes. There is no effective treatment for GM1 gangliosidosis. To determine the efficiency of an expression vector for correcting the genetic defect of GM1 gangliosidosis, we tested transfer of the ß-Gal gene (Glb1) to fibroblasts in culture using liposomes. ß-Gal cDNA was cloned into the expression vectors pSCTOP and pREP9. Transfection was performed using 4 µL lipofectamine 2000 and 1.5-2.0 µg DNA. Cells (2 x 10(5)/well) were... Tipo: Info:eu-repo/semantics/article Palavras-chave: GM1 gangliosidosis; SS-galactosidase deficiency; Gene therapy; Lysosomal storage disorder; Lipofectamine. Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000400005 Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts BJMBR Scalco,F.B.; Giugliani,R.; Tobo,P.; Coelho,J.C.. Niemann-Pick type C (NPC) fibroblasts present a large concentration of cholesterol in their cytoplasm due to a still unidentified deficiency in cholesterol metabolism. The influence of dimethylsulfoxide (DMSO) on the amount of intracellular cholesterol was measured in 8 cultures of normal fibroblasts and in 7 fibroblast cultures from NPC patients. DMSO was added to the fibroblast cultures at three different concentrations (1, 2 and 4%, v/v) and the cultures were incubated for 24 h. Sphingomyelinase activity was significantly increased in both groups of cells only when incubated with 2% DMSO (59.4 ± 9.1 and 77.0 ± 9.1 nmol h-1 mg protein-1, controls without and with 2% DMSO, respectively; 47.7 ± 5.2 and 55.8 ± 4.1 nmol h-1 mg protein-1, NPC without and with... Tipo: Info:eu-repo/semantics/article Palavras-chave: Cholesterol metabolism; Sphingomyelinase; Niemann-Pick disease; Lysosomal storage disorders. Ano: 1999 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1999000100003 Registros recuperados: 3 Primeira ... 1 ... Última

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