Mucopolysaccharidosis Type I
Mostrando 13-24 de 25 artigos, teses e dissertações.
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13. Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells.
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder characterised by the deficient activity of iduronidase and by the presence of MPS vacuoles in many tissues of affected patients. We studied whether these characteristics could be used for the antenatal diagnosis of the disease. We obtained amniotic fluid cells from two pregnancies at risk f
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14. Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.
The complementary and genomic DNA segments of the alpha-L-iduronidase gene from two Chinese mucopolysaccharidosis type I Hurler/Scheie (MPS IH/S) patients were amplified by polymerase chain reaction (PCR) and DNA sequencing was done to study their molecular lesions. Patient W3 has heterozygous mutations; the maternal allele has M1I (G to A transition in the
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15. Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII
Enzyme replacement therapy (ERT) effectively reverses storage in several lysosomal storage diseases. However, improvement in brain is limited by the blood-brain barrier except in the newborn period. In this study, we asked whether this barrier could be overcome by higher doses of enzyme than are used in conventional trials. We measured the distribution of re
National Academy of Sciences.
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16. Human alpha-L-iduronidase: cDNA isolation and expression.
alpha-L-Iduronidase (IDUA; EC 3.2.1.76) is a lysosomal hydrolase in the metabolic pathway responsible for the degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. A deficiency of IDUA in humans leads to the accumulation of these glycosaminoglycans and results in the lysosomal storage disorder mucopolysaccharidosis type I. We have isola
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17. Developmentally regulated mannose 6-phosphate receptor-mediated transport of a lysosomal enzyme across the blood-brain barrier
Mucopolysaccharidosis type VII is a lysosomal storage disorder resulting from inherited deficiency of β-glucuronidase (GUS). Mucopolysaccharidosis type VII is characterized by glycosaminoglycan storage in most tissues, including brain. In these disorders, enzyme delivery across the blood-brain barrier (BBB) is the main obstacle to correction of lysosomal st
National Academy of Sciences.
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18. Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
Mucopolysaccharidosis type IVA (MPS IVA) results from a genetic deficiency of N-acetylgalactosamine-6-sulfate (Gal-NAc6S) sulfatase. We have identified two different exonic mutations causing GalNAc6S sulfatase deficiency in two unrelated Japanese families, in one patient with classical Morquio disease, and in two brothers with a mild form of MPS IVA. The nuc
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19. Early Prenatal Diagnosis of Hurler's Syndrome with Termination of Pregnancy and Confirmatory Findings on the Fetus
Type I mucopolysaccharidosis was diagnosed in a fetus by assay of the glycosaminoglycans of the amniotic liquor. Results are presented of biochemical and ultrastructural studies on the 18-week abortus. The evidence suggests that the liver is more severely affected than the central nervous system at this stage of gestation, and this finding agrees with the re
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20. Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.
The enzymatic and immunologic properties of the defective residual alpha-L-iduronidase activities were investigated in fibroblast extracts from the three subtypes of mucopolysaccharidosis type I, Hurler (MPS IH), Scheie (MPS IS), and Hurler-Scheie (MPS IH-S) diseases. Using 4-methylumbelliferyl-alpha-L-iduronide (4MU-alpha-Id), the activities in fibroblast e
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21. Glycosaminoglycan-Mediated Loss of Cathepsin K Collagenolytic Activity in MPS I Contributes to Osteoclast and Growth Plate Abnormalities
Mucopolysaccharidoses are a group of lysosomal storage diseases characterized by the build-up of glycosaminoglycans (GAGs) and severe skeletal abnormalities. As GAGs can regulate the collagenolytic activity of the major osteoclastic protease cathepsin K, we investigated the presence and activity of cathepsin K and its co-localization with GAGs in mucopolysac
American Society for Investigative Pathology.
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22. The glycosaminoglycans of human plasma
A method is proposed for the measurement of glycosaminoglycans (GAG) on 5-10 ml of plasma. It is based on the adsorption of GAG on small ECTEOLA columns followed by measurement of the hexuronic acid in the NaCl eluates. Routine use of the method has indicated the presence of a GAG fraction that adsorbs readily on ECTEOLA (“free” GAG) and of another that
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23. Functional correction of established central nervous system deficits in an animal model of lysosomal storage disease with feline immunodeficiency virus-based vectors
Gene transfer vectors based on lentiviruses can transduce terminally differentiated cells in the brain; however, their ability to reverse established behavioral deficits in animal models of neurodegeneration has not previously been tested. When recombinant feline immunodeficiency virus (FIV)-based vectors expressing β-glucuronidase were unilaterally injecte
The National Academy of Sciences.
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24. Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler syndrome
Restricting transgene expression to maturing erythroid cells can reduce the risk for activating oncogenes in hematopoietic stem cells (HSCs) and their progeny, yet take advantage of their robust protein synthesis machinery for high-level protein production. This study sought to evaluate the feasibility and efficacy of reprogramming erythroid cells for produc
National Academy of Sciences.