Gm1 Gangliosidosis
Mostrando 1-12 de 28 artigos, teses e dissertações.
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1. β-Galactosidase Deficiency in Colombia: Report of 20 Patients Detected Using Dried Blood Spot Samples
Abstract β-Galactosidase (BGal) is the first enzyme involved in the catabolism of sphingolipids. Two pathologies have been directly associated with its deficiency: GM1 gangliosidosis and Morquio B. Morquio B is among the rarest types of mucopolysaccharidosis (MPS). We aim to document the β-galactosidase deficiency in Colombia. We evaluated leukocytes from
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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2. Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil
Abstract In this 25-year retrospective study, we analyzed data from 200 medical records concerning diagnosis, consanguinity, and geographic origin from probands with autosomal recessive inborn errors of metabolism in a reference service based in Campinas, Brazil. Consanguinity was confirmed by 56 (28%) couples, with similar values among groups of intermediar
J. inborn errors metab. screen.. Publicado em: 19/06/2019
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3. Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis
Abstract GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder with high prevalence in Brazil (1:17 000). In the present study, we genotyped 10 individuals of 9 unrelated families from the States of São Paulo and Minas Gerais diagnosed with the juvenile and chronic forms of the disease. We found the previously described p.Thr500Ala mut
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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4. Population analysis of the GLB1 gene in South Brazil
Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutat
Publicado em: 2011
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5. Population analysis of the GLB1 gene in South Brazil
Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutat
Genetics and Molecular Biology. Publicado em: 2011
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6. Transient high-level expression of B-galactosidase after transfection of fibroplasts from GM1 gangliosidosis patients with plasmid DNA
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
Publicado em: 2010
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7. Transient high-level expression of ß-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA
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
Brazilian Journal of Medical and Biological Research. Publicado em: 2008-04
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8. Comparison of the effect of ganglioside GM1 and the Nerve Growth Factor (NGF) on the expression of receiver of high affinity for NGF, TrkA and insulin in isolated pancreatic islets of NOD mice (non obese diabetic) / Comparação dos efeitos do gangliosideo GM1 e do fator de crescimento neural (NGF) sobre a expressão de receptor de alta afinidade para NGF, TrkA e insulina em ilhotas pancreaticas isoladas de camundongos NOD (diabetico não obeso)
The non-obese diabetic mice (NOD) lineage is characterized by developing type 1 diabetes mellitus (DM-1) naturally, bearing a similarity to DM-1 in human beings. The spontaneous manifestation of diabetes is characterized by gradual infiltration in pancreatic islets by mononuclear cells lymphocytes T (CD4+ and CD8+) and destruction of the ß-cells producers o
Publicado em: 2008
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9. Temporary high-level expression of beta-galactosidase activity in fibroblasts from GM1 gangliosidosis patients
Publicado em: 2007
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10. Biochemical characterization of the GM2 gangliosidosis B1 variant
The deficiency of the A isoenzyme of ß-hexosaminidase (Hex) produced by different mutations of the gene that codes for the alpha subunit (Tay-Sachs disease) has two variants with enzymological differences: the B variant consists of the absence of Hex A isoenzyme and the B1 variant produces an inactive Hex A isoenzyme for the hydrolysis of the GM2 gangliosid
Brazilian Journal of Medical and Biological Research. Publicado em: 2004-06
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11. Serum hexosaminidase and ß-glucuronidase activities in infants: effects of age and sex
We investigated the effect of age and sex on the serum activity of hexosaminidase (HEX) and ß-glucuronidase (BGLU) in 275 normal term infants aged 12 h to 12 months. Up to six weeks of life, HEX was significantly higher in boys (P<=0.023). During the age period of 1-26 weeks, BGLU was also higher in boys, but differences were significant only at 2-6 and 7-1
Brazilian Journal of Medical and Biological Research. Publicado em: 2003-03
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12. GM1 gangliosidosis type 1 in twins.
This report describes 7-month-old monozygotic twin female infants with GM1 gangliosidosis type I. In addition to the usual clinical and biochemical abnormalities generalized intracutaneous telangiectasis were present in both infants.