Results 151 to 160 of about 2,595 (198)

Intrathecal delivery of recombinant human iduronate-2-sulfatase (idursulfase-IT)

Molecular Genetics and Metabolism, 2011
Background: 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, J. Pan, Y. Huang, M. Alessandrini, N. Liu, R.W. Pfeifer, T.L. Wright, B.R. Felice, J. Powell, N. Savioli, J. Lotterhand, M.W. Heartlein   +11 more
openaire   +1 more source

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.
MORO, ENRICO, TOMANIN R, FRISO A, MODENA N, TISO, NATASCIA, SCARPA, MAURIZIO, ARGENTON, FRANCESCO   +6 more
openaire   +5 more sources

Genetic Engineering of a Bifunctional IgG Fusion Protein with Iduronate-2-Sulfatase

Bioconjugate Chemistry, 2009
Iduronate-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, Eric Ka-Wai, Hui, Ruben J, Boado, William M, Pardridge   +3 more
openaire   +2 more sources

DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression

Human Mutation, 1998
Deficiency 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, L E, Huckett, J W, Belmont, S K, Shapira, R A, Gibbs   +4 more
openaire   +2 more sources

Production of therapeutic iduronate‐2‐sulfatase enzyme with a novel single‐stranded RNA virus vector

Genes to Cells, 2021
AbstractThe Sendai virus vector has received a lot of attention due to its broad tropism for mammalian cells. As a result of efforts for genetic studies based on a mutant virus, we can now express more than 10 genes of up to 13.5 kilo nucleotides in a single vector with high protein expression efficiency. To prove this benefit, we examined the efficacy
Mari Ohira, Emika Kikuchi, Shiori Mizuta, Naomi Yoshida, Masafumi Onodera, Mahito Nakanishi, Torayuki Okuyama, Ryuichi Mashima   +7 more
openaire   +2 more sources

Expression of the two iduronate-2-sulfatase cDNAs.

Biochemistry and molecular biology international, 1995
The iduronate-2-sulfatase (IDS) is a lysosomal enzyme that acts on sulphate groups on C-2 positions of the iduronic acid residues of the mucopolysaccharides heparan sulphate and dermatan sulphate. Recently, we described in mouse two IDS mRNAs: the first or canonic (MTA16), highly homologous to the human counterpart, the second or novel (MTA13 ...
DANIELE, Aurora, DI NATALE P.
openaire   +3 more sources

Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient

Clinica Chimica Acta, 2008
Molecular investigations of iduronate-2-sulfatase (IDS) mutants for the X-linked lysosomal storage disease mucopolysaccharidosis type II (MPS II, Hunter disease), commonly depends on transient expression studies to verify a single nucleotide change to be pathogenic.
Lam, CW, Lau, KC
openaire   +4 more sources

Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II)

Human Genetics, 1992
Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb.
P L, Crotty, C B, Whitley
openaire   +2 more sources

Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome

Human Genetics, 1996
We have identified the mutations in the iduronate-2-sulfatase (IDS) gene of five unrelated Norwegians with Hunter syndrome by reverse transcription-polymerase chain reaction (RT-PCR) analysis of IDS mRNA followed by single strand conformation polymorphism (SSCP) analysis and cDNA sequencing. One patient had a 5-bp deletion, located at the intron 5/exon
T C, Olsen, H G, Eiken, P M, Knappskog, B F, Kase, J E, Månsson, H, Boman, J, Apold   +6 more
openaire   +2 more sources

A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II

World Journal of Pediatrics, 2012
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS). Genetic testing is crucial in clarifying and diagnosing different types of MPS diseases.
Xiao-Yan, Li, Xiu-Yu, Shi, Jun, Ju, Xiao-Hong, Hu, Xiao-Fan, Yang, Li-Ping, Zou   +5 more
openaire   +2 more sources