Results 141 to 150 of about 5,730 (195)
Expression of Five Iduronate-2-Sulfatase Site-Directed Mutations
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2000 Five point mutations (R88H, R88P, T118I, 959delT, R468Q) previously identified in the iduronate-2-sulfatase (IDS) gene of Italian Hunter patients were expressed in COS cells to evaluate their functional consequence on enzyme activity, processing and intracellular localization.
Guglielmo Rosario Domenico Villani +2 more
exaly +6 more sources
A Novel Functional Role of Iduronate-2-Sulfatase in Zebrafish Early Development
Matrix Biology, 2010 Sulfated 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.
Francesco Argenton +2 more
exaly +8 more sources
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Iduronate Sulfatase From Human Placenta
Biochimica Et Biophysica Acta - General Subjects, 1985The major enzyme component of iduronate sulfatase from human placenta was purified 30 000-fold by a five-step procedure. Sucrose gradient centrifugation of the native enzyme gave a molecular weight estimate of 80 000 +/- 10 000. Electrophoresis in sodium dodecyl sulfate of the enzyme reduced with mercaptoethanol showed a protein band of Mr 82 000.
Aurora Daniele +2 more
exaly +5 more sources
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2001 Mucopolysaccharidosis type II (Hunter syndrome; OMIM 309900) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13).
Mirella Filocamo +2 more
exaly +2 more sources
An assay for iduronate sulfatase (hunter corrective factor)
Carbohydrate Research, 1974Abstract A substrate for α- l -idopyranosyluronic acid 2-sulfate 2-sulfohydrolase (iduronate sulfatase), the enzyme deficient in the Hunter syndrome, was prepared by deaminative cleavage of heparin and subsequent reduction of the disulfated disaccharide fragment with sodium borotritide, to give O -(α- l -idopyranosyluronic acid 2-sulfate)-(1→4)-2,5 ...
T W, Lim +3 more
openaire +2 more sources
Uptake of Recombinant Iduronate-2-Sulfatase Into Neuronal and Glial Cells in Vitro
Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2002 Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a congenital storage disorder resulting from mutations on the iduronate-2-sulfatase (IDS) gene. The disease shows variable clinical phenotypes from severe to mild with progressive neurological dysfunction.
Guglielmo Rosario Domenico Villani +2 more
exaly +7 more sources
Identification of 6 New Mutations in the Iduronate Sulfatase Gene [PDF]
Human Mutation, 1999 Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. We sequenced genomic DNA and RT-PCR products in the iduronate sulfatase (IDS) gene in 6 unrelated patients with Hunter syndrome to assess genotype / phenotype relationships and offer carrier testing where
Marion Coulter-Mackie +2 more
exaly +2 more sources
Identification of iduronate-2-sulfatase in mouse pancreatic islets
American Journal of Physiology-Endocrinology and Metabolism, 2004The lysosomal enzyme iduronate-2-sulfatase (IDS) is expressed in pancreatic islets and is responsible for degradation of proteoglycans, such as perlecan and dermatan sulfate. To determine the role of IDS in islets, expression and regulation of the gene and localization of the enzyme were investigated in mouse pancreatic islets and clonal cells. The Ids
I, Coronado-Pons +4 more
openaire +2 more sources
“Supercharged Cells” for Delivery of Recombinant Human Iduronate-2-Sulfatase
Molecular Genetics and Metabolism, 2000Expression of iduronate-2-sulfatase (IDS) from three different promoters in four retroviral vectors was studied in peripheral blood lymphocytes from patients with Hunter syndrome (PBL(MPS)), i.e., the LTR in vectors L2SN and L2, avian beta-actin promoter in LB2, and the CMV early promoter in LNC2.
D, Pan +4 more
openaire +2 more sources