Search Results - "Clara Sá-Miranda"

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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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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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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Identification of Ubiquitin-specific Protease 9X (USP9X) as a Deubiquitinase Acting on Ubiquitin-Peroxin 5 (PEX5) Thioester Conjugate by Grou, Cláudia P., Francisco, Tânia, Rodrigues, Tony A., Freitas, Marta O., Pinto, Manuel P., Carvalho, Andreia F., Domingues, Pedro, Wood, Stephen A., Rodríguez-Borges, José E., Sá-Miranda, Clara, Fransen, Marc, Azevedo, Jorge E.

“…Peroxin 5 (PEX5), the peroxisomal protein shuttling receptor, binds newly synthesized peroxisomal matrix proteins in the cytosol and promotes their…”
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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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Members of the E2D (UbcH5) Family Mediate the Ubiquitination of the Conserved Cysteine of Pex5p, the Peroxisomal Import Receptor by Grou, Cláudia P., Carvalho, Andreia F., Pinto, Manuel P., Wiese, Sebastian, Piechura, Heike, Meyer, Helmut E., Warscheid, Bettina, Sá-Miranda, Clara, Azevedo, Jorge E.

“…According to current models of peroxisomal biogenesis, newly synthesized peroxisomal matrix proteins are transported into the organelle by Pex5p. Pex5p…”
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A Cargo-centered Perspective on the PEX5 Receptor-mediated Peroxisomal Protein Import Pathway by Francisco, Tânia, Rodrigues, Tony A., Freitas, Marta O., Grou, Cláudia P., Carvalho, Andreia F., Sá-Miranda, Clara, Pinto, Manuel P., Azevedo, Jorge E.

“…How the soluble receptor PEX5 delivers its cargoes to the peroxisome remains largely unknown. Results: Cargo translocation occurs after docking of the receptor…”
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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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Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase by Harmatz, Paul, Yu, Zi-Fan, Giugliani, Roberto, Schwartz, Ida Vanessa D, 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, Swiedler, Stuart J, Hardy, Karen, Berger, Kenneth I, Decker, Celeste

“…Pulmonary function is impaired in untreated mucopolysaccharidosis type VI (MPS VI). Pulmonary function was studied in patients during long-term enzyme…”
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Mutational analysis of 105 mucopolysaccharidosis type VI patients by Karageorgos, Litsa, Brooks, Doug A., Pollard, Anthony, Melville, Elizabeth L., Hein, Leanne K., Clements, Peter R., Ketteridge, David, Swiedler, Stuart J., Beck, Michael, Giugliani, Roberto, Harmatz, Paul, Wraith, James E., Guffon, Nathalie, Leão Teles, Elisa, Sá Miranda, M. Clara, Hopwood, John J.

“…Mucopolysaccharidosis type VI (MPS VI; Maroteaux‐Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N‐acetylgalactosamine‐4‐sulfatase…”
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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 Import Competence of a Peroxisomal Membrane Protein Is Determined by Pex19p before the Docking Step by Pinto, Manuel P., Grou, Cláudia P., Alencastre, Inês S., Oliveira, Márcia E., Sá-Miranda, Clara, Fransen, Marc, Azevedo, Jorge E.

“…Biogenesis of the mammalian peroxisomal membrane requires the action of Pex3p and Pex16p, two proteins present in the organelle membrane, and Pex19p, a protein…”
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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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Characterization of the Peroxisomal Cycling Receptor, Pex5p, Using a Cell-free in Vitro Import System by Gouveia, Alexandra M., Guimarães, Carla P., Oliveira, Márcia E., Reguenga, Carlos, Sá-Miranda, Clara, Azevedo, Jorge E.

“…According to current models of peroxisomal biogenesis, Pex5p cycles between the cytosol and the peroxisome transporting newly synthesized proteins to the…”
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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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