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M. Clara Sá-Miranda

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Portugal

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W Cherif; Neziha Kaabachi; I Riahi; M. Clara Sá-Miranda; Néji Tebib; F Ben Rhouma; Hadhami Ben Turkia; C Caillaud; Jalel Chemli; Sonia Abdelhak; Olga Amaral; Mohamed Ben Dridi
[Molecular diagnosis of Gaucher disease in Tunisia].
Manuel P Pinto; José E Rodríguez-Borges; M. Clara Sá-Miranda; Andreia F Carvalho; Cláudia P Grou; Jorge E Azevedo
Heat shock induces a massive but differential inactivation of SUMO-specific proteases.
Andreia F Carvalho; Pedro Domingues; Cláudia P Grou; Manuel P Pinto; M. Clara Sá-Miranda; Rui Vitorino; Fumiaki Yamao; Jorge E Azevedo
High-yield expression in Escherichia coli and purification of mouse ubiquitin-activating enzyme E1.

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All Publications

2013: W Cherif; Neziha Kaabachi; I Riahi; M. Clara Sá-Miranda; Néji Tebib; F Ben Rhouma; Hadhami Ben Turkia; C Caillaud; Jalel Chemli; Sonia Abdelhak; Olga Amaral; Mohamed Ben Dridi
[Molecular diagnosis of Gaucher disease in Tunisia].
Pathologie-biologie 2013;61(2):59-63.
2012: Manuel P Pinto; José E Rodríguez-Borges; M. Clara Sá-Miranda; Andreia F Carvalho; Cláudia P Grou; Jorge E Azevedo
Heat shock induces a massive but differential inactivation of SUMO-specific proteases.
Biochimica et biophysica acta 2012;1823(10):1958-66.
2012: Andreia F Carvalho; Pedro Domingues; Cláudia P Grou; Manuel P Pinto; M. Clara Sá-Miranda; Rui Vitorino; Fumiaki Yamao; Jorge E Azevedo
High-yield expression in Escherichia coli and purification of mouse ubiquitin-activating enzyme E1.
Molecular biotechnology 2012;51(3):254-61.
2012: Cláudia P Grou; Manuel P Pinto; Tony A Rodrigues; José E Rodríguez-Borges; M. Clara Sá-Miranda; Stephen A Wood; Andreia F Carvalho; Pedro Domingues; Tânia Francisco; Marc Fransen; Marta O Freitas; Jorge E Azevedo
Identification of ubiquitin-specific protease 9X (USP9X) as a deubiquitinase acting on ubiquitin-peroxin 5 (PEX5) thioester conjugate.
The Journal of biological chemistry 2012;287(16):12815-27.
2011: Marta O Freitas; Cláudia P Grou; Manuel P Pinto; Tony A Rodrigues; M. Clara Sá-Miranda; Inês S Alencastre; Andreia F Carvalho; Tânia Francisco; Marc Fransen; Jorge E Azevedo
PEX5 protein binds monomeric catalase blocking its tetramerization and releases it upon binding the N-terminal domain of PEX14.
The Journal of biological chemistry 2011;286(47):40509-19.
2011: Carmen Valbuena; João Paulo Oliveira; Fátima Carneiro; Sandra Relvas; Mariana Ganhão; M. Clara Sá-Miranda; Lorena G Rodrigues
Kidney histologic alterations in α-Galactosidase-deficient mice.
Virchows Archiv : an international journal of pathology 2011;458(4):477-86.
2010: Andrea Balreira; Marco Cavallari; M. Clara Sá-Miranda; Fernando A. Arosa
Uncoupling between CD1d upregulation induced by retinoic acid and conduritol-B-epoxide and iNKT cell responsiveness.
Immunobiology 2010;215(6):505-13.
2010: Paul Harmatz; Zi-Fan Yu; Roberto Giugliani; Ida Vanessa D Schwartz; Nathalie Guffon; Elisa Leão Teles; M. Clara Sá-Miranda; James Wraith; Michael Beck; Laila Arash; MAURIZIO SCARPA; David Ketteridge; John J Hopwood; Barbara Plecko; Robert D Steiner; Chester Whitley; Paige Kaplan; Stuart J Swiedler; Karen Hardy; Kenneth I Berger; Celeste Decker
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
Journal of inherited metabolic disease 2010;33(1):51-60.
2010: Carla E M Hollak; Stephan vom Dahl; Johannes M F G Aerts; Nadia Belmatoug; Bruno Bembi; Yossi Cohen; Tanya Collin-Histed; Patrick Deegan; Laura van Dussen; Pilar Giraldo; Eugen Mengel; Helen Michelakakis; Jeremy Manuel; Martin Hrebicek; Rosella Parini; Jörg Reinke; Maja Di Rocco; Miguel Pocovi; M. Clara Sá-Miranda; Anna Tylki-Szymanska; Ari Zimran; Timothy M Cox
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.
Blood cells, molecules & diseases 2010;44(1):41-7.
2009: Manuel P Pinto; Cláudia P Grou; Marc Fransen; M. Clara Sá-Miranda; Jorge E Azevedo
The cytosolic domain of PEX3, a protein involved in the biogenesis of peroxisomes, binds membrane lipids.
Biochimica et biophysica acta 2009;1793(11):1669-75.
2009: Inês S Alencastre; Tony A Rodrigues; Cláudia P Grou; Marc Fransen; M. Clara Sá-Miranda; Jorge E Azevedo
Mapping the cargo protein membrane translocation step into the PEX5 cycling pathway.
The Journal of biological chemistry 2009;284(40):27243-51.
2009: Cláudia P Grou; Andreia F Carvalho; Manuel P Pinto; Sofie J Huybrechts; M. Clara Sá-Miranda; Marc Fransen; Jorge E Azevedo
Properties of the ubiquitin-pex5p thiol ester conjugate.
The Journal of biological chemistry 2009;284(16):10504-13.
2009: Cláudia P Grou; Andreia F Carvalho; Manuel P Pinto; Inês S Alencastre; T A Rodrigues; M O Freitas; T Francisco; M. Clara Sá-Miranda; Jorge E Azevedo
The peroxisomal protein import machinery--a case report of transient ubiquitination with a new flavor.
Cellular and molecular life sciences : CMLS 2009;66(2):254-62.
2008: João Paulo Oliveira; M. Clara Sá-Miranda; J Barceló; Filipa Carvalho; Susana Ferreira; P Gaspar; J-E Månsson
Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.
Journal of inherited metabolic disease 2008;31 Suppl 2():S247-53.
2008: Andrea Balreira; Maria F Macedo; Cristina Girão; Lorena G Rodrigues; João P Oliveira; M. Clara Sá-Miranda; Fernando A. Arosa
Anomalies in conventional T and invariant natural killer T-cell populations in Fabry mice but not in Fabry patients.
British journal of haematology 2008;143(4):601-4.
2008: Paul Harmatz; Roberto Giugliani; Ida Vanessa D Schwartz; Nathalie Guffon; Elisa Leão Teles; M. Clara Sá-Miranda; James Wraith; Michael Beck; Laila Arash; MAURIZIO SCARPA; David Ketteridge; John J Hopwood; Barbara Plecko; Robert D Steiner; Chester Whitley; Paige Kaplan; Zi-Fan Yu; Stuart J Swiedler; Celeste Decker
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.
Molecular genetics and metabolism 2008;94(4):469-75.
2008: Andrea Balreira; Paulo Gaspar; Daniel Caiola; João Chaves; Idalina Beirão; José Lopes Lima; Jorge Eduardo Azevedo; M. Clara Sá-Miranda
A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.
Human molecular genetics 2008;17(14):2238-43.
2008: Cláudia P Grou; Andreia F Carvalho; Manuel P Pinto; Sebastian Wiese; Heike Piechura; Helmut E Meyer; Bettina Warscheid; M. Clara Sá-Miranda; Jorge E Azevedo
Members of the E2D (UbcH5) family mediate the ubiquitination of the conserved cysteine of Pex5p, the peroxisomal import receptor.
The Journal of biological chemistry 2008;283(21):14190-7.
2007: Andreia F Carvalho; Manuel P Pinto; Cláudia P Grou; Inês S Alencastre; Marc Fransen; M. Clara Sá-Miranda; Jorge E Azevedo
Ubiquitination of mammalian Pex5p, the peroxisomal import receptor.
The Journal of biological chemistry 2007;282(43):31267-72.
2007: Litsa Karageorgos; Doug A Brooks; Anthony Pollard; Elizabeth L Melville; Leanne K Hein; Peter R Clements; David Ketteridge; Stuart J Swiedler; Michael Beck; Roberto Giugliani; Paul Harmatz; James Wraith; Nathalie Guffon; Elisa Leão Teles; M. Clara Sá-Miranda; John J Hopwood
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
Human mutation 2007;28(9):897-903.
2007: Andreia F Carvalho; Cláudia P Grou; Manuel P Pinto; Inês S Alencastre; João Costa-Rodrigues; Marc Fransen; M. Clara Sá-Miranda; Jorge E Azevedo
Functional characterization of two missense mutations in Pex5p - C11S and N526K.
Biochimica et biophysica acta 2007;1773(7):1141-8.
2006: Manuel P Pinto; Cláudia P Grou; Inês S Alencastre; Márcia E Oliveira; M. Clara Sá-Miranda; Marc Fransen; Jorge E Azevedo
The import competence of a peroxisomal membrane protein is determined by Pex19p before the docking step.
The Journal of biological chemistry 2006;281(45):34492-502.
2006: Carlos Bessa; C A F Teixeira; M Mangas; Adelaide Dias; M. Clara Sá-Miranda; António Guimarães; J C Ferreira; N Canas; P Cabral; Maria Gil Ribeiro
Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.
Molecular genetics and metabolism 2006;89(3):245-53.
2006: C A F Teixeira; S Lin; M Mangas; R Quinta; Carlos Bessa; C Ferreira; M. Clara Sá-Miranda; Rose-Mary N Boustany; Maria Gil Ribeiro
Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology.
Biochimica et biophysica acta 2006;1762(7):637-46.
2006: R Rozenberg; Fernando Kok; Maira G Burin; M. Clara Sá-Miranda; C Vasques; A M M Henriques-Souza; R Giugliani; Mariz Vainzof; Lygia Pereira
Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.
Journal of child neurology 2006;21(6):540-4.
2006: Paul Harmatz; Roberto Giugliani; Ida Schwartz; Nathalie Guffon; Elisa Leão Teles; M. Clara Sá-Miranda; James Wraith; Michael Beck; Laila Arash; MAURIZIO SCARPA; Zi-Fan Yu; Janet Wittes; Kenneth I Berger; Mary S Newman; Ann M Lowe; Emil D Kakkis; Stuart J Swiedler
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.
The Journal of pediatrics 2006;148(4):533-539.
2006: Andreia F Carvalho; João Costa-Rodrigues; Isabel Correia; João Costa Pessoa; Tiago Q Faria; Cristina L Martins; Marc Fransen; M. Clara Sá-Miranda; Jorge E Azevedo
The N-terminal half of the peroxisomal cycling receptor Pex5p is a natively unfolded domain.
Journal of molecular biology 2006;356(4):864-75.
2005: Meriem Lamghari; Cristina C Barrias; M. Clara Sá-Miranda; Mário Barbosa
Recombinant glucocerebrosidase uptake by Gaucher disease human osteoblast culture model.
Blood cells, molecules & diseases 2005;35(3):348-54.
2005: Cristina C Barrias; Meriem Lamghari; Pedro L Granja; M. Clara Sá-Miranda; Mário Barbosa
Biological evaluation of calcium alginate microspheres as a vehicle for the localized delivery of a therapeutic enzyme.
Journal of biomedical materials research. Part A 2005;74(4):545-52.
2005: João Costa-Rodrigues; Andreia F Carvalho; Marc Fransen; Eva Hambruch; Wolfgang Schliebs; M. Clara Sá-Miranda; Jorge E Azevedo
Pex5p, the peroxisomal cycling receptor, is a monomeric non-globular protein.
The Journal of biological chemistry 2005;280(26):24404-11.
2005: Paul Harmatz; David Ketteridge; Roberto Giugliani; Nathalie Guffon; Elisa Leão Teles; M. Clara Sá-Miranda; Zi-Fan Yu; Stuart J Swiedler; John J Hopwood
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.
Pediatrics 2005;115(6):e681-9.
2005: Stuart J Swiedler; Michael Beck; Manal Bajbouj; Roberto Giugliani; Ida Schwartz; Paul Harmatz; James Wraith; Jane Roberts; David Ketteridge; John J Hopwood; Nathalie Guffon; M. Clara Sá-Miranda; Elisa Leão Teles; Kenneth I Berger; Cheri Piscia-Nichols
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
American journal of medical genetics. Part A 2005;134A(2):144-50.
2005: Ana Marcão; Roland Wiest; Kaspar Schindler; Ulrich Wiesmann; Joachim Weis; Gerhard Schroth; M. Clara Sá-Miranda; Matthias Sturzenegger; Volkmar Gieselmann
Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.
Archives of neurology 2005;62(2):309-13.
2005: Carla P Guimarães; M. Clara Sá-Miranda; Jorge E Azevedo
Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis.
Journal of human genetics 2005;50(2):99-105.
2004: João Costa-Rodrigues; Andreia F Carvalho; Alexandra M Gouveia; Marc Fransen; M. Clara Sá-Miranda; Jorge E Azevedo
The N terminus of the peroxisomal cycling receptor, Pex5p, is required for redirecting the peroxisome-associated peroxin back to the cytosol.
The Journal of biological chemistry 2004;279(45):46573-9.
2004: M R Rodrigues; M. Clara Sá-Miranda; Olga Amaral
Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.
Blood cells, molecules & diseases 2004;33(3):362-4.
2004: Carla P Guimarães; Pedro Domingues; Patrick Aubourg; Françoise Fouquet; Aurora Pujol; Gerardo Jimenez-Sanchez; M. Clara Sá-Miranda; Jorge E Azevedo
Mouse liver PMP70 and ALDP: homomeric interactions prevail in vivo.
Biochimica et biophysica acta 2004;1689(3):235-43.
2004: Rui Aguiar Pinto; Carla Caseiro; Manuela Lemos; Lurdes Lopes; Augusta Fontes; Helena Ribeiro; Eugénia Pinto; Elisabete Silva; Sónia Rocha; Ana Marcão; Isaura Ribeiro; Luiz D Lacerda; Gil Ribeiro; Olga Amaral; M. Clara Sá-Miranda
Prevalence of lysosomal storage diseases in Portugal.
European journal of human genetics : EJHG 2004;12(2):87-92.
2003: Ana Marcão; Eugénia Pinto; Sónia Rocha; M. Clara Sá-Miranda; Luís Ferreira; Olga Amaral
ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis.
Molecular genetics and metabolism 2003;79(4):305-7.
2003: Ana Marcão; Jorge E Azevedo; Volkmar Gieselmann; M. Clara Sá-Miranda
Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T.
Biochemical and biophysical research communications 2003;306(1):293-7.
2003: Carla Teixeira; António Guimarães; Carlos Bessa; Maria José Ferreira; Lurdes Lopes; Eugénia Pinto; Rui Aguiar Pinto; Rose-Mary N Boustany; M. Clara Sá-Miranda; Maria Gil Ribeiro
Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.
Journal of neurology 2003;250(6):661-7.
2003: João Guimarães; Olga Amaral; M. Clara Sá-Miranda
Adult-onset neuronopathic form of Gaucher's disease: a case report.
Parkinsonism & related disorders 2003;9(5):261-4.
2003: C A F Teixeira; Janice A Espinola; Liang Huo; Johannes Kohlschütter; Dixie-Ann Persaud-Sawin; Berge A Minassian; Carlos Bessa; António Guimarães; Dietrich A Stephan; M. Clara Sá-Miranda; Marcy E MacDonald; Maria Gil Ribeiro; Rose-Mary N Boustany
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.
Human mutation 2003;21(5):502-8.
2003: Alexandra M Gouveia; Carla P Guimarães; Márcia E Oliveira; M. Clara Sá-Miranda; Jorge E Azevedo
Insertion of Pex5p into the peroxisomal membrane is cargo protein-dependent.
The Journal of biological chemistry 2003;278(7):4389-92.
2003: Ana Marcão; Heidi Simonis; Frank Schestag; M. Clara Sá-Miranda; Volkmar Gieselmann
Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations.
American journal of medical genetics. Part A 2003;116A(3):238-42.
2003: Alexandra M Gouveia; Carla P Guimarães; Márcia E Oliveira; Carlos Reguenga; M. Clara Sá-Miranda; Jorge E Azevedo
Characterization of the peroxisomal cycling receptor Pex5p import pathway.
Advances in experimental medicine and biology 2003;544():219-20.
2003: Timothy M Cox; johannes aerts; Generoso Andria; Michael Beck; N Belmatoug; Bruno Bembi; R Chertkoff; Stephan vom Dahl; Deborah Elstein; Anders Erikson; M Giralt; Rene Heitner; Carla E M Hollak; Martin Hrebicek; S Lewis; Atul Mehta; Gregory M Pastores; Arndt Rolfs; M. Clara Sá-Miranda; Ari Zimran
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement.
Journal of inherited metabolic disease 2003;26(6):513-26.
2002: Márcia E Oliveira; Carlos Reguenga; Alexandra M Gouveia; Carla P Guimarães; Wolfgang Schliebs; Wolf-H Kunau; Manuel T Silva; M. Clara Sá-Miranda; Jorge E Azevedo
Mammalian Pex14p: membrane topology and characterisation of the Pex14p-Pex14p interaction.
Biochimica et biophysica acta 2002;1567(1-2):13-22.
2002: Carla P Guimarães; Manuela Lemos; M. Clara Sá-Miranda; Jorge E Azevedo
Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.
Molecular genetics and metabolism 2002;76(1):62-7.
2001: Carla P Guimarães; M Lemos; I Menezes; T Coelho; M. Clara Sá-Miranda; Jorge E Azevedo
Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.
Human genetics 2001;109(6):616-22.
2001: C A F Teixeira; M Sena-Esteves; Lurdes Lopes; M. Clara Sá-Miranda; Maria Gil Ribeiro
Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant.
Human gene therapy 2001;12(14):1771-83.
2001: Carlos Reguenga; Márcia E Oliveira; Alexandra M Gouveia; M. Clara Sá-Miranda; Jorge E Azevedo
Characterization of the mammalian peroxisomal import machinery: Pex2p, Pex5p, Pex12p, and Pex14p are subunits of the same protein assembly.
The Journal of biological chemistry 2001;276(32):29935-42.
2001: Isaura Ribeiro; Ana Marcão; Olga Amaral; M. Clara Sá-Miranda; marie T vanier; Gilles Millat
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
Human genetics 2001;109(1):24-32.
2000: Olga Amaral; Ana Marcão; M. Clara Sá-Miranda; R J Desnick; M E Grace
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
European journal of human genetics : EJHG 2000;8(2):95-102.
1999: Alexandra M Gouveia; Carlos Reguenga; Márcia E Oliveira; C Eckerskorn; M. Clara Sá-Miranda; Jorge E Azevedo
Alkaline density gradient floatation of membranes: polypeptide composition of the mammalian peroxisomal membrane.
Analytical biochemistry 1999;274(2):270-7.
1999: Luis F Pérez; M I Martínez; Helena Ribeiro; Rui Aguiar Pinto; M. Clara Sá-Miranda; J Carlos Tutor
Characterization of the isoenzyme profile of beta-N-acetylhexosaminidase in the urine of newborns.
Clinical chemistry and laboratory medicine : CCLM / FESCC 1999;37(7):765-9.
1999: Luis F Pérez; Helena Ribeiro; J Antonio Casal; Rui Aguiar Pinto; M. Clara Sá-Miranda; J Carlos Tutor
Thermodynamic characterisation of the mutated isoenzyme A of beta-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant.
Clinica chimica acta; international journal of clinical chemistry 1999;285(1-2):45-51.
1999: Olga Amaral; Luiz D Lacerda; Ana Marcão; Eugénia Pinto; G Tamagnini; M. Clara Sá-Miranda
Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin.
Clinical genetics 1999;56(1):100-2.
1999: Carlos Reguenga; Márcia E Oliveira; Alexandra M Gouveia; C Eckerskorn; M. Clara Sá-Miranda; Jorge E Azevedo
Identification of a 24 kDa intrinsic membrane protein from mammalian peroxisomes.
Biochimica et biophysica acta 1999;1445(3):337-41.
1999: H Ferreira; R Seppala; Rui Aguiar Pinto; Marjan Huizing; E Martins; A C Braga; L Gomes; Donna Krasnewich; M. Clara Sá-Miranda; William A Gahl
Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.
Molecular genetics and metabolism 1999;67(2):131-7.
1999: Luiz D Lacerda; Fernando A. Arosa; Rosa Lacerda; José Manuel Cabeda; Graça Porto; Olga Amaral; A Fortuna; Rui Aguiar Pinto; Pedro Oliveira; C E McLaren; M. Clara Sá-Miranda; Maria de Sousa
T cell numbers relate to bone involvement in Gaucher disease.
Blood cells, molecules & diseases 1999;25(2):130-8.
1999: Ana Marcão; Olga Amaral; Eugénia Pinto; Rui Aguiar Pinto; M. Clara Sá-Miranda
Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online.
Human mutation 1999;13(4):337-8.
1997: Olga Amaral; Ana Marcão; Eugénia Pinto; A Zimran; M. Clara Sá-Miranda
Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation.
Blood cells, molecules & diseases 1997;23(3):415-6.
1997: M Gil Ribeiro; Rui Aguiar Pinto; K Suzuki; M. Clara Sá-Miranda
Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients.
Human mutation 1997;10(5):359-60.
1996: M G Ribeiro; T Sonin; Rui Aguiar Pinto; A Fontes; Helena Ribeiro; Eugénia Pinto; M M Palmeira; M. Clara Sá-Miranda
Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.
Journal of medical genetics 1996;33(4):341-3.
1996: Olga Amaral; Eugénia Pinto; M Fortuna; Luiz D Lacerda; M. Clara Sá-Miranda
Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.
Human mutation 1996;8(3):280-1.
1995: M Lemos; Rui Aguiar Pinto; G Ribeiro; Helena Ribeiro; L Lopes; M. Clara Sá-Miranda
Prenatal diagnosis of GM2-gangliosidosis B1 variant.
Prenatal diagnosis 1995;15(6):585-8.
1995: J Salgado-Borges; A Silva-Araújo; M M Lemos; M. Clara Sá-Miranda; P Abreu-Dias; M A Tavares
Morphological and biochemical assessment of the cornea in a Gaucher disease carrier with keratoconus.
European journal of ophthalmology 1995;5(2):69-74.
1995: M G Ribeiro; Rui Aguiar Pinto; M. Clara Sá-Miranda; K Suzuki
Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients.
Biochimica et biophysica acta 1995;1270(1):44-51.
1994: Luiz D Lacerda; Olga Amaral; Rui Aguiar Pinto; P Oliveira; johannes aerts; M. Clara Sá-Miranda
Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population.
Clinical genetics 1994;45(6):298-300.
1994: Olga Amaral; A M Fortuna; Luiz D Lacerda; Rui Aguiar Pinto; M. Clara Sá-Miranda
Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.
Journal of medical genetics 1994;31(5):401-4.
1994: Luiz D Lacerda; Olga Amaral; Rui Aguiar Pinto; johannes aerts; M. Clara Sá-Miranda
The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism.
Journal of inherited metabolic disease 1994;17(1):85-8.
1993: Luiz D Lacerda; Olga Amaral; Rui Aguiar Pinto; johannes aerts; M. Clara Sá-Miranda
Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis.
Biochemical medicine and metabolic biology 1993;50(2):190-6.
1993: M G Ribeiro; Rui Aguiar Pinto; P Oliveira; M. Clara Sá-Miranda
Identification of GM2-gangliosidosis B1 variant carriers.
Journal of inherited metabolic disease 1993;16(6):1003-11.
1991: johannes aerts; M C Sa Miranda; L Wanzeller de Lacerda; Sonja van Weely; Wilma E Donker-Koopman; B Brouwer-Kelder; D C Jansen; M van Leeuwen; M. Clara Sá-Miranda; A Tsiapara
The identification of type 1 Gaucher disease patients, asymptomatic cases and carriers in The Netherlands using urine samples: an evaluation.
Clinica chimica acta; international journal of clinical chemistry 1991;203(2-3):349-61.
1991: M. Clara Sá-Miranda; A Tanaka; M Clara Sá Miranda; M G Ribeiro; M Maia; K Suzuki
GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal.
American journal of human genetics 1991;49(4):886-90.
1991: Sonja van Weely; M B Van Leeuwen; I D Jansen; M A De Bruijn; E M Brouwer-Kelder; M. Clara Sá-Miranda; M C Sa Miranda; J A Barranger; E M Petersen; J Goldblatt
Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts.
Biochimica et biophysica acta 1991;1096(4):301-11.
1991: M G Ribeiro; Rui Aguiar Pinto; M R Dos Santos; M Maia; M. Clara Sá-Miranda
Biochemical characterization of beta-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant.
Journal of inherited metabolic disease 1991;14(5):715-20.
1990: johannes aerts; M C Sa Miranda; E M Brouwer-Kelder; M. Clara Sá-Miranda; J A Barranger; J M Tager
Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease.
Biochimica et biophysica acta 1990;1041(1):55-63.
1990: M C Sa Miranda; johannes aerts; Rui Aguiar Pinto; A Fontes; L W de Lacerda; M. Clara Sá-Miranda; J Barranger; J M Tager
Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients.
Clinical genetics 1990;38(3):218-27.
1990: johannes aerts; Wilma E Donker-Koopman; S Brul; Sonja van Weely; M C Sa Miranda; J A Barranger; J M Tager; M. Clara Sá-Miranda
Comparative study on glucocerebrosidase in spleens from patients with Gaucher disease.
The Biochemical journal 1990;269(1):93-100.
1988: M C Sa Miranda; johannes aerts; Rui Aguiar Pinto; J A Magalhaes; J A Barranger; J M Tager; M. Clara Sá-Miranda
Heterogeneity in human acid beta-glucosidase revealed by cellulose-acetate electrophoresis.
Biochimica et biophysica acta 1988;965(2-3):163-8.
1986: D Alves; M M Pires; António Guimarães; M. Clara Sá-Miranda
Four cases of late onset metachromatic leucodystrophy in a family: clinical, biochemical and neuropathological studies.
Journal of neurology, neurosurgery, and psychiatry 1986;49(12):1417-22.
1984: J Magalhães; M. Clara Sá-Miranda; Rui Aguiar Pinto; M Lemos; L Poenaru
Sodium taurocholate effect on beta-glucosidase activity: a new approach for identification of Gaucher disease using the synthetic substrate and leucocytes.
Clinica chimica acta; international journal of clinical chemistry 1984;141(2-3):111-8.
1984: J Magalhães; Rui Aguiar Pinto; M Lemos; M. Clara Sá-Miranda; L Poenaru
Age dependency of serum acid phosphatase in controls and Gaucher patients.
Enzyme 1984;32(2):95-9.
1983: M. Clara Sá-Miranda; S Gautron; H Puissant; J C Dreyfus; Livia Poenaru
Reactivating factors of human alpha-mannosidase mutant.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1983;37(4):189-91.
1980: Livia Poenaru; C Miranda; M. Clara Sá-Miranda
Residual mannosidase activity in human mannosidosis: characterization of the mutant enzyme.
American journal of human genetics 1980;32(3):354-63.