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M.C. Sá Miranda
University of Porto
AlleleDiseaseGlucocerebrosidaseGeneticsBiology
33Publications
14H-index
837Citations
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Publications 33
Newest
#1Wafa Cherif (Pasteur Institute)H-Index: 6
#2H. Ben TurkiaH-Index: 5
Last. M. Ben DridiH-Index: 9
view all 12 authors...
Trabalho desenvolvido na sequencia de projeto de colaboracao Portugal-Tunisia iniciado no IBMC-UP.
Source
#1J.P. Oliveira (University of Porto)H-Index: 3
#2Susana Ferreira (University of Porto)H-Index: 11
Last. J.-E. MånssonH-Index: 2
view all 7 authors...
Background: The α-galactosidase gene (GLA) has three single-nucleotide polymorphisms in the 5′ untranslated region of exon 1, respectively g.1150G>A, g.1168G>A, g.1170C>T. The g.1150A allele is associated with increased plasma α-galactosidase (α-Gal) activity in hemizygotes, while the others are regarded as biologically neutral. The primary goal of this investigation was to test the hypothesis, raised by a clinical observation and results of a family study, that the g.1170T allele polymorphism i...
11 CitationsSource
#1Lúcia LacerdaH-Index: 5
#2O. AmaralH-Index: 5
Last. M.C. Sá MirandaH-Index: 14
view all 6 authors...
In the Portuguese population the most frequent form of Gaucher disease is type 1. The N370S glucocerebrosidase gene mutation accounts for 63% of mutated alleles. The frequency of this mutation was accurately determined in the Portuguese population, which does not present an Ashkenazi Jewish genetic background. A gene frequency of 0.0043, with 95% confidence limits between 0.0023 and 0.0063, was obtained studying the genomic DNA of 2000 blood cards randomly sampled from the national neonatal scre...
25 CitationsSource
#1C. Bessa (University of Porto)H-Index: 2
#2C.A.F. Teixeira (University of Porto)H-Index: 2
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The neuronal ceroid-lipofuscinoses are the most common neurodegenerative disorders in childhood characterized by progressive blindness, epilepsy, brain atrophy, and premature death. Based on the age at onset, disease progression and ultrastructural features three classical (infantile, late-infantile, and juvenile) and three variant late-infantile forms are generally distinguished (Finnish variant, Costa Rican variant, and epilepsy with progressive motor retardation). The Finnish variant late-inf...
25 CitationsSource
#1Carla Andreia Teixeira (IBMC: Instituto de Biologia Molecular e Celular)H-Index: 8
#2S. Lin (Duke University)H-Index: 1
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The CLN6 vLINCL is caused by molecular defects in CLN6 gene coding for an ER resident transmembrane protein whose function is unknown. In the present study gene expression profiling of CLN6-deficient fibroblasts using cDNA microarray was undertaken in order to provide novel insights into the molecular mechanisms underlying this neurodegenerative fatal disease. Data were validated by qRT-PCR. Statistically significant alterations of expression were observed for 12 transcripts. The two most overex...
13 CitationsSource
#1R. Rozenberg (USP: University of São Paulo)H-Index: 1
#2Fernando Kok (USP: University of São Paulo)H-Index: 30
Last. Lygia da Veiga Pereira (USP: University of São Paulo)H-Index: 22
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Molecular analysis of five Brazilian families, including eight patients presenting with nonclassic Tay-Sachs disease, was performed to identify frequent causative mutations and their correlation with clinical course. Three patients were affected by the B1 subacute variant and were shown to carry the R178H mutation (the DN allele), which is also common among Portuguese patients. Two of them were compound heterozygotes, whereas the third presented with the mutation in both alleles. Since Brazil wa...
10 CitationsSource
#1Cristina C. BarriasH-Index: 26
#2Cristina Ribeiro (University of Porto)H-Index: 15
Last. M.C. Sá Miranda (Institute of Business & Medical Careers)H-Index: 14
view all 6 authors...
The ability of calcium titanium phosphate (CTP) and hydroxyapatite (HAp) microspheres to reversibly adsorb the enzyme glucocerebrosidase (GCR) while preserving its biological activity, and efficiently deliver it to Gaucher disease (GD) fibroblasts was investigated. CTP microspheres adsorbed ca. 3.6-fold more GCR than HAp microspheres. The activity of adsorbed GCR was higher than the free enzyme in the case of CTP microspheres and lower when HAp was used. GCR release from both types of microspher...
3 CitationsSource
#1Cristina C. Barrias (University of Porto)H-Index: 26
#2Meriem LamghariH-Index: 20
Last. A BarbosaMário (University of Porto)H-Index: 48
view all 5 authors...
Gaucher disease (GD) is caused by the decreased activity and/or stability of the lysosomal enzyme glucoce- rebrosidase (GCR). The available treatment consists in the intravenous administration of exogenous GCR, and is effec- tive in reverting most of the symptoms. However, in terms of bone pathology, which is among the most disabling man- ifestations, a slow and incomplete response is observed, indicating that adjuvant therapies are necessary to consis- tently restore GCR activity in bone and ac...
36 CitationsSource
#1Cristina C. BarriasH-Index: 26
#2Cristina Ribeiro (University of Porto)H-Index: 15
Last. A BarbosaMário (University of Porto)H-Index: 48
view all 5 authors...
In this study, the addition of calcium phosphate powders to an alginate matrix was evaluated as a strategy to modulate enzyme release-kinetics from alginate microspheres and, simultaneously, to improve cell adhesion to the polymer. Pre-adsorption of the enzyme to the ceramic powders resulted in a more adequate release pattern. The ratio of ceramic-to-polymer had a pronounced effect on osteoblast adhesion to microspheres. Cells were only able to spread on microspheres with the highest percentage ...
9 CitationsSource
#1M.R. RodriguesH-Index: 1
#2M.C. Sá Miranda (IBMC: Instituto de Biologia Molecular e Celular)H-Index: 14
Last. Olga Amaral (IBMC: Instituto de Biologia Molecular e Celular)H-Index: 4
view all 3 authors...
Abstract Chitotriosidase is a human chitinase produced by macrophages. Its enzymatic activity is markedly elevated in serum of patients suffering from lysosomal storage disorders, as well as other diseases in which macrophages are activated. Therefore, it is a useful tool as a secondary marker in the diagnosis of several disorders including Gaucher disease type 1 and Niemann–Pick disease. The determination of chitotriosidase levels as a diagnosis complement in some lysosomal storage disorders an...
25 CitationsSource
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