Zobrazeno 1 - 10
of 94
pro vyhledávání: '"M.C. Sá-Miranda"'
Autor:
L.G. Rodrigues, M.J. Ferraz, D. Rodrigues, M. Pais-Vieira, D. Lima, R.O. Brady, M.M. Sousa, M.C. Sá-Miranda
Publikováno v:
Neurobiology of Disease, Vol 33, Iss 1, Pp 48-56 (2009)
Fabry disease (OMIM 301500) is a rare X-linked recessive disorder caused by mutations in the α-galactosidase gene (GLA). Loss of α-galactosidase (α-Gal) activity leads to the abnormal accumulation of glycosphingolipids in lysosomes predominantly o
Externí odkaz:
https://doaj.org/article/66fdfa41993844b9bdae5af25249f97a
Autor:
Neji Tebib, Wafa Cherif, I. Riahi, F. Ben Rhouma, Neziha Kaabachi, Sonia Abdelhak, Catherine Caillaud, M.C. Sá Miranda, H. Ben Turkia, Olga Amaral, M.F. Ben Dridi, Jalel Chemli
Publikováno v:
Pathologie Biologie. 61:59-63
Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid β-glucosidase. In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in 30 Tunisian patients with Gaucher disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06babba617b1e380739fd82fce7a9602
https://doi.org/10.1016/j.patbio.2012.03.006
https://doi.org/10.1016/j.patbio.2012.03.006
Autor:
R.O. Brady, Mónica Mendes Sousa, M.J. Ferraz, Lorena G. Rodrigues, Miguel Pais-Vieira, Daniel Rodrigues, M.C. Sá-Miranda, Deolinda Lima
Publikováno v:
Neurobiology of Disease, Vol 33, Iss 1, Pp 48-56 (2009)
Fabry disease (OMIM 301500) is a rare X-linked recessive disorder caused by mutations in the alpha-galactosidase gene (GLA). Loss of alpha-galactosidase (alpha-Gal) activity leads to the abnormal accumulation of glycosphingolipids in lysosomes predom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a028d781f7a7b85395f1d2b16d1a670e
https://doi.org/10.1016/j.nbd.2008.09.001
https://doi.org/10.1016/j.nbd.2008.09.001
Autor:
Lygia da Veiga Pereira, Roberto Giugliani, C. Vasques, M.C. Sá Miranda, Mariz Vainzof, R. Rozenberg, M.G. Burin, Fernando Kok, A.M.M. Henriques-Souza
Publikováno v:
Journal of Child Neurology. 21:540-544
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 t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::593221e806a53d28ae0c67981007b048
https://doi.org/10.1177/08830738060210061101
https://doi.org/10.1177/08830738060210061101
Autor:
Cristina Ribeiro, D. Rodrigues, Cristina C. Barrias, Mário A. Barbosa, M.C.L. Martins, M.C. Sá Miranda
Publikováno v:
Key Engineering Materials. :903-906
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 wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7f0dd906254b16d364956a02d53ce13
https://doi.org/10.4028/www.scientific.net/kem.309-311.903
https://doi.org/10.4028/www.scientific.net/kem.309-311.903
Publikováno v:
Key Engineering Materials. :689-692
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72f0b30e8e51ef0b7e5068e7822a0243
https://doi.org/10.4028/www.scientific.net/kem.284-286.689
https://doi.org/10.4028/www.scientific.net/kem.284-286.689
Publikováno v:
Journal of Biomedical Materials Research Part A. :545-552
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5d8d758dad1964c046cd4b0e1f5f263
https://doi.org/10.1002/jbm.a.30348
https://doi.org/10.1002/jbm.a.30348
Autor:
Augusta Fontes, Lurdes Lopes, G. Ribeiro, Lúcia Lacerda, Isaura Ribeiro, Carla Caseiro, M.C. Sá Miranda, Olga Amaral, Elisabete Silva, Helena Ribeiro, Eugénia Pinto, Sónia Rocha, Manuela Lemos, Rui Pinto, Ana Marcão
Publikováno v:
European Journal of Human Genetics. 12:87-92
Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders individually considered as rare, and few data on its prevalence has been reported in the literature. The overall birth prevalence of the 29 different LSDs studied in the P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6e5cd7fa91e533bb8adba1276871c1a
https://doi.org/10.1038/sj.ejhg.5201044
https://doi.org/10.1038/sj.ejhg.5201044
Publikováno v:
Human Gene Therapy. 12:1771-1783
Mutations in the alpha-chain of lysosomal hexosaminidase (EC 3.2.1.52) underlie two distinct biochemical phenotypes known as variant B and variant B1 of G(M2) gangliosidosis. This paper shows that the transduction of human B1-type fibroblasts (produc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c99489b38d0073d08008e1ea9540cfd3
https://doi.org/10.1089/104303401750476267
https://doi.org/10.1089/104303401750476267
Publikováno v:
European Journal of Human Genetics. 8:95-102
Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficient activity of acid beta-glucosidase. Molecular analysis of 12 unrelated Portuguese patients with type 1 GD identified three novel acid beta-glucosidas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb9e537ac4cc2692418b948f9216bc17
https://doi.org/10.1038/sj.ejhg.5200422
https://doi.org/10.1038/sj.ejhg.5200422