Results 171 to 180 of about 2,839 (212)
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Detection of four novel mutations in the iduronate-2-sulfatase gene
Human Mutation, 1998Hypochondroplasia and achondroplasia are skeletal dysplasias, characterized by autosomal dominant inheritance and disproportionate short stature, which occurs mainly due to growth failure of the extremities. Both dysplasias have been mapped to fibroblast growth factor receptor 3 (FGFR3) gene. For hypochondroplasia, two point mutations, both responsible
BALZANO N. +4 more
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Intrathecal delivery of recombinant human iduronate-2-sulfatase (idursulfase-IT)
Molecular Genetics and Metabolism, 2011Background: Idursulfase has limited passage through the bloodbrain barrier when administered intravenously. Objectives: We have undertaken a program to develop an intrathecal (IT) formulation of idursulfase to target CNS manifestations of MPS II. Methods: In a safety study, single bolus injections of idursulfase-IT 3 mg (n=12), 30 mg (n=6), or 100 mg ...
P. Calias +11 more
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A novel functional role of iduronate-2-sulfatase in zebrafish early development
Matrix Biology, 2010Sulfated glycosaminoglycan chains of extracellular matrix and cell membrane-tethered proteoglycans exert specific cellular functions by interacting with a broad spectrum of morphogens and growth factors. In humans, a congenital impaired catabolism of sulfated glycosaminoglycans is associated with severe metabolic disorders.
MORO, ENRICO +6 more
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[Preparation of iduronate sulfatase from the human placenta].
Bollettino della Societa italiana di biologia sperimentale, 1979The preparation of the enzyme iduronate sulfatase from human placenta has been undertaken. The substrate O-(alpha-L-idopyranosyluronic acid 2-sulfate) (1 leads to 4)-2,5-anhydro-D-[3H]mannitol 6-sulfate was used to measure the enzymatic activity. The enzyme shows a pH optimum of 4.0 in 0.1 M sodium formiate or acetate buffer.
P, Di Natale, P, Murino, A, Perfumo
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A Substrate for Direct Measurement of L-iduronic Acid 2-sulfate sulfatase
Carbohydrate Research, 1978Commercially available sodium heparinate has been sequentially treated with methanolic 0.06M hydrogen chloride and nitrous acid. The nondegraded material was separated by gel filtration from the nonsulfated and monosulfated disaccharides produced. The latter ones, obtained in 10% yield, have been used as a substrate for the direct measurement of the ...
L C, Ginsberg +2 more
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Genetic Engineering of a Bifunctional IgG Fusion Protein with Iduronate-2-Sulfatase
Bioconjugate Chemistry, 2009Iduronate-2-sulfatase (IDS) is a lysosomal sulfatase that prevents the accumulation within the brain of glycosoaminoglycans. However, IDS does not cross the blood-brain barrier (BBB). To enable BBB transport, human IDS, minus its signal peptide, was fused to the carboxyl terminus of the heavy chain of a chimeric monoclonal antibody (mAb) to the human ...
Jeff Zhiqiang, Lu +3 more
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Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase
Human Genetics, 1987Polyclonal antibodies were obtained from rabbits by injection of iduronate sulfatase purified 35,000-fold from human placenta, after elution of the enzyme from sodium dodecyl sulfate (SDS) polyacrylamide gels. The specificity of these antibodies towards iduronate sulfatase was demonstrated by immunoprecipitation of enzyme activity; the level of other ...
DANIELE, Aurora, DI NATALE P.
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DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression
Human Mutation, 1998Deficiency of the enzyme iduronate-2-sulfatase (IDS) results in Hunter syndrome, an X-linked recessive lysosomal storage disorder. In this study, analysis of a patient with features of moderate to severe Hunter syndrome identified a 178-bp deletion upstream of IDS exon 1 spanning a predicted promoter element.
K M, Timms +4 more
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Purification and some properties of human liver iduronate sulfatase.
Journal of biochemistry, 1982Iduronate sulfatase was purified from human liver for an investigation of the degradative pathway of dermatan sulfate. An overall 80-fold purification was achieved and, more importantly, the preparation was free of alpha-L-iduronidase, beta-glucuronidase, N-acetylgalactosamine 4-sulfate sulfatase (arylsulfatase B) and highly enriched in beta-N ...
T, Yutaka +3 more
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