Lista de obras - Sá Miranda MC - Dominio Público Uruguay

A cargo-centered perspective on the PEX5 receptor-mediated peroxisomal protein import pathway.

artículo científico publicado en 2013

ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis

artículo científico publicado en 2003

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis

artículo científico publicado en 2013

Adsorption of a therapeutic enzyme to self-assembled monolayers: effect of surface chemistry and solution pH on the amount and activity of adsorbed enzyme

scientific article published on 01 May 2005

Adult-onset neuronopathic form of Gaucher's disease: a case report.

artículo científico publicado en 2003

Alkaline density gradient floatation of membranes: polypeptide composition of the mammalian peroxisomal membrane.

artículo científico publicado en 1999

Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.

artículo científico publicado en 2004

Anomalies in conventional T and invariant natural killer T-cell populations in Fabry mice but not in Fabry patients

scientific article published on 01 November 2008

Biochemical characterization of beta-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant

artículo científico publicado en 1991

Biological evaluation of calcium alginate microspheres as a vehicle for the localized delivery of a therapeutic enzyme.

artículo científico publicado en 2005

Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP

scientific article published on 26 October 2001

Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts ⬇️

artículo científico publicado el 5 de junio de 1991

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

artículo científico publicado en 2003

Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease

artículo científico publicado en 1990

Enzyme replacement therapy for mucopolysaccharidosis VI: long‐term cardiac effects of galsulfase (Naglazyme®) therapy ⬇️

artículo científico publicado el 5 de junio de 2012

Enzyme replacement therapy partially prevents invariant Natural Killer T cell deficiency in the Fabry disease mouse model

artículo científico publicado en 2012

Functional characterization of two missense mutations in Pex5p - C11S and N526K

scientific article published on 29 April 2007

Heat shock induces a massive but differential inactivation of SUMO-specific proteases

artículo científico publicado en 2012

High-yield expression in Escherichia coli and purification of mouse ubiquitin-activating enzyme E1.

artículo científico publicado en 2012

Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin

artículo científico publicado en 1999

Identification of GM2-gangliosidosis B1 variant carriers

scientific article published on 01 January 1993

Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis

scientific article published on 01 October 1993

Insertion of Pex5p into the Peroxisomal Membrane Is Cargo Protein-dependent

artículo científico publicado en 2002

Invariant natural killer T cells are phenotypically and functionally altered in Fabry disease ⬇️

artículo científico publicado el 1 de febrero de 2013

Kidney histologic alterations in α-Galactosidase-deficient mice

scientific article published on 16 February 2011

Left ventricular noncompaction in a patient with fabry disease: overdiagnosis, morphological manifestation of fabry disease or two unrelated rare conditions in the same patient?

artículo científico

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.

artículo científico publicado en 2012

Members of the E2D (UbcH5) family mediate the ubiquitination of the conserved cysteine of Pex5p, the peroxisomal import receptor

artículo científico publicado en 2008

Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene

scientific article published on 01 May 2002

Mouse liver PMP70 and ALDP: homomeric interactions prevail in vivo.

artículo científico publicado en 2004

Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice.

artículo científico publicado en 2008

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

artículo científico publicado en 2003

PEX5 Protein Binds Monomeric Catalase Blocking Its Tetramerization and Releases It upon Binding the N-terminal Domain of PEX14 ⬇️

artículo científico publicado el 5 de octubre de 2011

Pex5p, the peroxisomal cycling receptor, is a monomeric non-globular protein.

artículo científico publicado en 2005

Prenatal diagnosis of GM2-gangliosidosis B1 variant

artículo científico publicado en 1995

Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis

artículo científico publicado en 2005

Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings

artículo científico publicado en 2011

Properties of the ubiquitin-pex5p thiol ester conjugate.

artículo científico publicado en 2009

Reduced glucosylceramide in the mouse model of Fabry disease: correction by successful enzyme replacement therapy.

artículo científico publicado en 2013

Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant.

artículo científico publicado en 2001

Screening of high-risk Gaucher disease patients using dried blood spots techniques

artículo científico publicado en 2013

Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics

artículo científico publicado en 1999

The N-terminal half of the peroxisomal cycling receptor Pex5p is a natively unfolded domain.

artículo científico publicado en 2005

The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism

artículo científico publicado en 1994

The cytosolic domain of PEX3, a protein involved in the biogenesis of peroxisomes, binds membrane lipids

artículo científico publicado en 2009

The energetics of Pex5p-mediated peroxisomal protein import.

artículo científico publicado en 2003

The import competence of a peroxisomal membrane protein is determined by Pex19p before the docking step.

artículo científico publicado en 2006

The peroxisomal protein import machinery--a case report of transient ubiquitination with a new flavor.

artículo científico publicado en 2009

Thermodynamic characterisation of the mutated isoenzyme A of beta-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant

scientific article published on 01 July 1999

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)

scientific article published on 01 April 2005

Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients

artículo científico publicado en 1997

Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

artículo científico publicado en 2006

Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese

artículo científico publicado en 1996

Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal.

artículo científico publicado en 1993

Ubiquitination of mammalian Pex5p, the peroxisomal import receptor.

artículo científico publicado en 2007

Uncoupling between CD1d upregulation induced by retinoic acid and conduritol-B-epoxide and iNKT cell responsiveness.

artículo científico publicado en 2009

Lista de obras de Sá Miranda MC

A cargo-centered perspective on the PEX5 receptor-mediated peroxisomal protein import pathway.

ARSA-PD associated alleles in the Portuguese population: frequency determination and haplotype analysis

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis

Adsorption of a therapeutic enzyme to self-assembled monolayers: effect of surface chemistry and solution pH on the amount and activity of adsorbed enzyme

Adult-onset neuronopathic form of Gaucher's disease: a case report.

Alkaline density gradient floatation of membranes: polypeptide composition of the mammalian peroxisomal membrane.

Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.

Anomalies in conventional T and invariant natural killer T-cell populations in Fabry mice but not in Fabry patients

Biochemical characterization of beta-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant

Biological evaluation of calcium alginate microspheres as a vehicle for the localized delivery of a therapeutic enzyme.

Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP

Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts ⬇️

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease

Enzyme replacement therapy for mucopolysaccharidosis VI: long‐term cardiac effects of galsulfase (Naglazyme®) therapy ⬇️

Enzyme replacement therapy partially prevents invariant Natural Killer T cell deficiency in the Fabry disease mouse model

Functional characterization of two missense mutations in Pex5p - C11S and N526K

Heat shock induces a massive but differential inactivation of SUMO-specific proteases

High-yield expression in Escherichia coli and purification of mouse ubiquitin-activating enzyme E1.

Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin

Identification of GM2-gangliosidosis B1 variant carriers

Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis

Insertion of Pex5p into the Peroxisomal Membrane Is Cargo Protein-dependent

Invariant natural killer T cells are phenotypically and functionally altered in Fabry disease ⬇️

Kidney histologic alterations in α-Galactosidase-deficient mice

Left ventricular noncompaction in a patient with fabry disease: overdiagnosis, morphological manifestation of fabry disease or two unrelated rare conditions in the same patient?

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.

Members of the E2D (UbcH5) family mediate the ubiquitination of the conserved cysteine of Pex5p, the peroxisomal import receptor

Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene

Mouse liver PMP70 and ALDP: homomeric interactions prevail in vivo.

Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice.

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

PEX5 Protein Binds Monomeric Catalase Blocking Its Tetramerization and Releases It upon Binding the N-terminal Domain of PEX14 ⬇️

Pex5p, the peroxisomal cycling receptor, is a monomeric non-globular protein.

Prenatal diagnosis of GM2-gangliosidosis B1 variant

Probing substrate-induced conformational alterations in adrenoleukodystrophy protein by proteolysis

Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings

Properties of the ubiquitin-pex5p thiol ester conjugate.

Reduced glucosylceramide in the mouse model of Fabry disease: correction by successful enzyme replacement therapy.

Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant.

Screening of high-risk Gaucher disease patients using dried blood spots techniques

Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics

The N-terminal half of the peroxisomal cycling receptor Pex5p is a natively unfolded domain.

The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism

The cytosolic domain of PEX3, a protein involved in the biogenesis of peroxisomes, binds membrane lipids

The energetics of Pex5p-mediated peroxisomal protein import.

The import competence of a peroxisomal membrane protein is determined by Pex19p before the docking step.

The peroxisomal protein import machinery--a case report of transient ubiquitination with a new flavor.

Thermodynamic characterisation of the mutated isoenzyme A of beta-N-acetylhexosaminidase in GM2-gangliosidosis B1 variant

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)

Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients

Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese

Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal.

Ubiquitination of mammalian Pex5p, the peroxisomal import receptor.

Uncoupling between CD1d upregulation induced by retinoic acid and conduritol-B-epoxide and iNKT cell responsiveness.