about
The cytosolic domain of PEX3, a protein involved in the biogenesis of peroxisomes, binds membrane lipidsMembers of the E2D (UbcH5) family mediate the ubiquitination of the conserved cysteine of Pex5p, the peroxisomal import receptorSialuria in a Portuguese girl: clinical, biochemical, and molecular characteristicsProperties of the ubiquitin-pex5p thiol ester conjugate.Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.High-yield expression in Escherichia coli and purification of mouse ubiquitin-activating enzyme E1.Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.Ubiquitination of mammalian Pex5p, the peroxisomal import receptor.A cargo-centered perspective on the PEX5 receptor-mediated peroxisomal protein import pathway.The peroxisomal protein import machinery--a case report of transient ubiquitination with a new flavor.Left ventricular noncompaction in a patient with fabry disease: overdiagnosis, morphological manifestation of fabry disease or two unrelated rare conditions in the same patient?Pex5p, the peroxisomal cycling receptor, is a monomeric non-globular protein.Reduced glucosylceramide in the mouse model of Fabry disease: correction by successful enzyme replacement therapy.Uncoupling between CD1d upregulation induced by retinoic acid and conduritol-B-epoxide and iNKT cell responsiveness.Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant.Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysisClinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.The energetics of Pex5p-mediated peroxisomal protein import.Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice.Biological evaluation of calcium alginate microspheres as a vehicle for the localized delivery of a therapeutic 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.The import competence of a peroxisomal membrane protein is determined by Pex19p before the docking step.Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal.The N-terminal half of the peroxisomal cycling receptor Pex5p is a natively unfolded domain.Mouse liver PMP70 and ALDP: homomeric interactions prevail in vivo.Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.Kidney histologic alterations in α-Galactosidase-deficient miceInsertion of Pex5p into the Peroxisomal Membrane Is Cargo Protein-dependentProgressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblingsScreening of high-risk Gaucher disease patients using dried blood spots techniquesThreshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)Adsorption of a therapeutic enzyme to self-assembled monolayers: effect of surface chemistry and solution pH on the amount and activity of adsorbed enzymeBiochemical characterization of beta-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variantConditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher diseaseType 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the PortuguesePrenatal diagnosis of GM2-gangliosidosis B1 variantThe N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphismIdentification of GM2-gangliosidosis B1 variant carriers
P50
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P50
description
researcher ORCID ID = 0000-0003-0123-5525
@en
wetenschapper
@nl
name
Maria Clara Pereira Sá Miranda
@en
Sá Miranda MC
@ast
Sá Miranda MC
@es
Sá Miranda MC
@nl
type
label
Maria Clara Pereira Sá Miranda
@en
Sá Miranda MC
@ast
Sá Miranda MC
@es
Sá Miranda MC
@nl
altLabel
Sá Miranda MC
@en
prefLabel
Maria Clara Pereira Sá Miranda
@en
Sá Miranda MC
@ast
Sá Miranda MC
@es
Sá Miranda MC
@nl
P1153
P1153
55953394000
55978791700
7003456585
P31
P496
0000-0003-0123-5525