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| Rozenberg,R.; Araújo,F.T.; Fox,D.C.; Aranda,P.; Nonino,A.; Micheletti,C.; Martins,A.M.; Cravo,R.; Sobreira,E.; Pereira,L.V.. |
| Gaucher disease (GD), the most prevalent lysosome storage disorder, presents an autosomal recessive mode of inheritance. It is a paradigm for therapeutic intervention in medical genetics due to the existence of effective enzyme replacement therapy. We report here the analysis of GD in 262 unrelated Brazilian patients, carried out in order to establish the frequency of the most common mutations and to provide prognostic information based on genotype-phenotype correlations. Among 247 type 1 GD patients, mutation N370S was detected in 47% of all the alleles, but N370S/N370S homozygosity was found in only 10% of the patients, a much lower frequency than expected, suggesting that most individuals presenting this genotype may not receive medical attention.... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Gaucher disease; GBA gene; Allele dose-effect. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000900004 |
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| Muller,Maria Viviane Gomes; Petry,André; Vianna,Luciene Pinheiro; Breier,Ana Carolina; Michelin-Tirelli,Kristiane; Pires,Ricardo Flores; Trindade,Vera Maria Treis; Coelho,Janice Carneiro. |
| Gaucher disease is a sphingolipidosis that leads to an accumulation of glucosylceramide. The objective of this study was to develop a methodology, based on the extraction, purification and quantification of glucosylceramide from blood plasma, for use in clinical research laboratories. Comparison of the glucosylceramide content in plasma from Gaucher disease patients, submitted to enzyme replacement therapy or otherwise, against that from normal individuals was also carried out. The glucosylceramide, separated from other glycosphingolipids by high performance thin layer chromatography (HPTLC) was chemically developed (CuSO4 / H3PO4) and the respective band confirmed by immunostaining (human anti-glucosylceramide antibody / peroxidase-conjugated secondary... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Glucosylceramide; Blood plasma analysis; Gaucher disease. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1984-82502010000400005 |
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| Koppe,Tiago; Doneda,Divair; Siebert,Marina; Paskulin,Livia; Camargo,Matheus; Tirelli,Kristiane Michelin; Vairo,Filippo; Daudt,Liane; Schwartz,Ida Vanessa D.. |
| Abstract The clinical utility of serum ferritin as a biomarker of disease severity and prognosis in Gaucher disease (GD) is still debated. Here, we aimed to evaluate ferritin and its relation to clinicolaboratory parameters of GD patients seen at the Reference Center for Gaucher Disease of Rio Grande do Sul, Brazil, so as to gather evidence on the utility of ferritin as a biomarker of this condition. A retrospective chart review was performed collecting pre-and posttreatment data from GD patients. Eighteen patients with ferritin levels available before and after treatment were included in the study. Nine of these participants were males, and seventeen had type I GD. All patients were given either enzyme replacement (n = 16) or substrate reduction therapy... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Ferritin; Biomarkers; Gaucher disease; Iron metabolism. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000100030 |
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| Chang, Hui-Hwa; Asano, Naoki; Ishii, Satoshi; Ichikawa, Yoshitaka; Fan, Jian-Qiang. |
| Gaucher disease is an autosomal recessive lysosomal storage disorder caused by the deficient activity of glucocerebrosidase. Accumulation of glucosylceramide, primarily in the lysosomes of cells of the reticuloendothelial system, leads to hepatosplenomegaly, anemia and skeletal lesions in type I disease, and neurologic manifestations in types II and III disease. We report herein the identification of hydrophilic active-site-specific chaperones that are capable of increasing glucocerebrosidase activity in the cultured fibroblasts of Gaucher patients. Screening of a variety of natural and synthetic alkaloid compounds showed isofagomine, N-dodecyl deoxynojirimycin, calystegines A(3), B-1, B-2 and C-1, and 1,5-dideoxy-1,5-iminoxylitol to be potent inhibitors... |
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Palavras-chave: Active-site-specific chaperone; Drug design; Gaucher disease; Glucocerebrosidase; Isofagomine. |
| Ano: 2006 |
URL: http://ir.obihiro.ac.jp/dspace/handle/10322/814 |
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