Search Results - "Miranda, Clara Sá"

Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study by Harmatz, Paul, Giugliani, Roberto, Schwartz, Ida, Guffon, Nathalie, Teles, Elisa Leão, Miranda, M. Clara Sá, Wraith, J. Edmond, Beck, Michael, Arash, Laila, Scarpa, Maurizio, Yu, Zi-Fan, Wittes, Janet, Berger, Kenneth I., Newman, Mary S., Lowe, Ann M., Kakkis, Emil, Swiedler, Stuart J.

“…The objective of this Phase 3 study was to confirm the efficacy and safety of recombinant human arylsulfatase B (rhASB) treatment of mucopolysaccharidosis type…”
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Direct Comparison of Measures of Endurance, Mobility, and Joint Function During Enzyme-Replacement Therapy of Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Results After 48 Weeks in a Phase 2 Open-Label Clinical Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase by Harmatz, Paul, Ketteridge, David, Giugliani, Roberto, Guffon, Natalie, Teles, Elisa Leao, Miranda, M. Clara Sa, Yu, Zi-Fan, Swiedler, Stuart J, Hopwood, John J, MPS VI Study Group

“…Mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disease caused by a deficiency of the enzyme N-acetylgalactosamine…”
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Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase by Harmatz, Paul, Giugliani, Roberto, D. Schwartz, Ida Vanessa, Guffon, Nathalie, Teles, Elisa Leão, Miranda, M. Clara Sá, Wraith, J. Edmond, Beck, Michael, Arash, Laila, Scarpa, Maurizio, Ketteridge, David, Hopwood, John J., Plecko, Barbara, Steiner, Robert, Whitley, Chester B., Kaplan, Paige, Yu, Zi-Fan, Swiedler, Stuart J., Decker, Celeste

“…The objective of this study was to evaluate the long-term clinical benefits and safety of recombinant human arylsulfatase B (rhASB) treatment of…”
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Properties of the Ubiquitin-Pex5p Thiol Ester Conjugate by Grou, Cláudia P., Carvalho, Andreia F., Pinto, Manuel P., Huybrechts, Sofie J., Sá-Miranda, Clara, Fransen, Marc, Azevedo, Jorge E.

“…Pex5p, the peroxisomal protein cycling receptor, binds newly synthesized peroxisomal matrix proteins in the cytosol and promotes their translocation across the…”
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Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis by Gaspar, Paulo, Kallemeijn, Wouter W., Strijland, Anneke, Scheij, Saskia, Van Eijk, Marco, Aten, Jan, Overkleeft, Herman S., Balreira, Andrea, Zunke, Friederike, Schwake, Michael, Sá Miranda, Clara, Aerts, JohannesM.F.G.

“…Lysosomal integral membrane protein-2 (LIMP2) mediates trafficking of glucocerebrosidase (GBA) to lysosomes. Deficiency of LIMP2 causes action myoclonus-renal…”
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A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome by Balreira, Andrea, Gaspar, Paulo, Caiola, Daniel, Chaves, João, Beirão, Idalina, Lima, José Lopes, Azevedo, Jorge Eduardo, Miranda, Maria Clara Sá

“…The main clinical features of two siblings from a consanguineous marriage were progressive myoclonic epilepsy without intellectual impairment and a nephrotic…”
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Evidence for a link between sphingolipid metabolism and expression of CD1d and MHC‐class II: monocytes from Gaucher disease patients as a model by Balreira, Andrea, Lacerda, Lúcia, Miranda, Clara Sá, Arosa, Fernando A.

“…Summary Gaucher disease (GD) is an autosomal recessive inherited defect of the lysosomal enzyme glucocerebrosidase (GluCerase) that leads to glucosylceramide…”
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The cytosolic domain of PEX3, a protein involved in the biogenesis of peroxisomes, binds membrane lipids by Pinto, Manuel P., Grou, Cláudia P., Fransen, Marc, Sá-Miranda, Clara, Azevedo, Jorge E.

“…According to current models, most newly synthesized peroxisomal intrinsic membrane proteins are recognized in the cytosol and targeted to the peroxisomal…”
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Kidney histologic alterations in α-Galactosidase-deficient mice by Valbuena, Carmen, Oliveira, João Paulo, Carneiro, Fátima, Relvas, Sandra, Ganhão, Mariana, Sá-Miranda, M. Clara, Rodrigues, Lorena G.

“…Fabry disease is a rare X-linked disorder caused by mutations in the α-galactosidase gene ( GLA ), the resultant deficiency of lysosomal α-galactosidase enzyme…”
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Mapping the Cargo Protein Membrane Translocation Step into the PEX5 Cycling Pathway by Alencastre, Inês S., Rodrigues, Tony A., Grou, Cláudia P., Fransen, Marc, Sá-Miranda, Clara, Azevedo, Jorge E.

“…Newly synthesized peroxisomal matrix proteins are targeted to the organelle by PEX5, the peroxisomal cycling receptor. Over the last few years, valuable data…”
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Proliferation, activity, and osteogenic differentiation of bone marrow stromal cells cultured on calcium titanium phosphate microspheres by Barrias, Cristina C., Ribeiro, Cristina C., Lamghari, Meriem, Miranda, Clara Sá, Barbosa, Mário A.

“…In this study, the behavior of bone marrow stromal cells cultured on calcium titanium phosphate (CTP) microspheres was analyzed. Cell adhesion and…”
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Sphingolipid signalling mediates mitochondrial dysfunctions and reduced chronological lifespan in the yeast model of Niemann‐Pick type C1 by Vilaça, Rita, Silva, Elísio, Nadais, André, Teixeira, Vítor, Matmati, Nabil, Gaifem, Joana, Hannun, Yusuf A., Sá Miranda, Maria Clara, Costa, Vítor

“…Summary The Niemann‐Pick type C is a rare metabolic disease with a severe neurodegenerative phenotype characterized by an accumulation of high amounts of…”
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Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings by Chaves, João, Beirão, Idalina, Balreira, Andrea, Gaspar, Paulo, Caiola, Daniel, Sá-Miranda, M. Clara, Lima, José L

“…Abstract Action myoclonus-renal failure syndrome (AMRF) is considered a rare form of progressive myoclonus epilepsy (PME) associated with renal failure. A…”
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Adsorption of a therapeutic enzyme to self-assembled monolayers: effect of surface chemistry and solution pH on the amount and activity of adsorbed enzyme by Barrias, Cristina C., Martins, Ma Cristina L., Miranda, Ma Clara Sá, Barbosa, Mário A.

“…The adsorption of a therapeutic enzyme to self-assembled monolayers (SAMs) of different functionalities (X=CH3-, OH- and COOH-) was evaluated as a function of…”
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The Energetics of Pex5p-mediated Peroxisomal Protein Import by Oliveira, Márcia E., Gouveia, Alexandra M., Pinto, Rui A., Sá-Miranda, Clara, Azevedo, Jorge E.

“…Most newly synthesized peroxisomal matrix proteins are targeted to the organelle by Pex5p, the peroxisomal cycling receptor. According to current models of…”
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Description of a new mutation in a female patient with Fabry disease by Correia, Emanuel, Vidinha, Joana, Rodrigues, Bruno, Santos, Luís, Moreira, Davide, Garrido, Jesus, Clara Sá Miranda, M, Cabral, Costa, Santos, Oliveira

“…Fabry disease is caused by intracellular accumulation of glycosphingolipids in various tissues, secondary to mutations in the GLA gene (Xq22). Classically…”
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Ubiquitination of Mammalian Pex5p, the Peroxisomal Import Receptor by Carvalho, Andreia F., Pinto, Manuel P., Grou, Cláudia P., Alencastre, Inês S., Fransen, Marc, Sá-Miranda, Clara, Azevedo, Jorge E.

“…Protein translocation across the peroxisomal membrane requires the concerted action of numerous peroxins. One central component of this machinery is Pex5p, the…”
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Characterization of the Mammalian Peroxisomal Import Machinery by Carlos Reguenga, Márcia E. M. Oliveira, Alexandra M. M. Gouveia, Clara Sá-Miranda, Jorge E. Azevedo

“…Although many of the proteins involved in the biogenesis of the mammalian peroxisome have already been identified, our knowledge of the architecture of all…”
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Pex5p, the Peroxisomal Cycling Receptor, Is a Monomeric Non-globular Protein by Costa-Rodrigues, João, Carvalho, Andreia F., Fransen, Marc, Hambruch, Eva, Schliebs, Wolfgang, Sá-Miranda, Clara, Azevedo, Jorge E.

“…In mammals, targeting of newly synthesized peroxisomal matrix proteins to the organelle requires Pex5p, the peroxisomal cycling receptor. Pex5p is a…”
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Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula by Giraldo, Pilar, Alfonso, Pilar, Irún, Pilar, Gort, Laura, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel, Sá Miranda, Clara M, Pocovi, Miguel

“…Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics…”
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