|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 required.
|
10220152 |
1999 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with mucopolysaccharidosis type II (MPS II) lack iduronate-2-sulfatase (IDS), and serial PBL gene therapy may benefit these patients.
|
10220258 |
1999 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
We constructed three types of MLV-based retroviral vectors expressing iduronate-2-sulfatase (IDS) which is deficient in patients suffering from Hunter's syndrome: MIN-IDS and MIM-IDS, which express IDS along with bacterial neo and human MDR genes, respectively, and MT-IDS lacking any selectable marker.
|
12516048 |
2003 |
|
Mucopolysaccharidosis II
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
|
11731225 |
2001 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
IDS is responsible for the lysosomal degradation of heparan sulfate and dermatan sulfate and linked to an X-linked lysosomal storage disease, mucopolysaccharidosis 2 (MPS2), resulting in neurological damage and early death.
|
28401457 |
2017 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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.
|
18331837 |
2008 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type II (Hunter syndrome) is an X linked lysosomal storage disorder resulting from heterogeneous mutations in the iduronate-2-sulphatase (IDS) gene.
|
9950361 |
1999 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).
|
7981716 |
1994 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
It is caused by a deficiency in the lysosomal enzyme iduronate-2-sulfatase, and in affected patients glycosaminoglycan accumulates in lysosomes of various tissues and organs and contributes to the pathophysiology of Hunter syndrome.
|
18580692 |
2008 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.
|
21829674 |
2011 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hunter syndrome (or mucopolysaccharidosis type II, MPS II) is an X-linked recessive disorder induced by a deficiency of the iduronate 2-sulfatase (IDS) enzyme, resulting in the accumulation of glycosaminoglycan substrates, heparan sulfate and dermatan sulfate, in the lysosomes.
|
28588666 |
2017 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
|
8281149 |
1993 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II.
|
31029429 |
2019 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding the enzyme iduronate-2-sulfatase (IDS) were reported as the cause of the X-linked recessive lysosomal disease, mucopolysaccharidosis II (MPS II).
|
16699754 |
2006 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type II (MPSII; Hunter syndrome) is a lysosomal storage disorder caused by a deficiency in the enzyme iduronate 2-sulfatase (IDS).
|
16505002 |
2006 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
The important management topics are discussed in this review, and the use of enzyme-replacement therapy with recombinant human iduronate-2-sulfatase as a specific treatment for Hunter syndrome is presented.
|
19901005 |
2009 |
|
Mucopolysaccharidosis II
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).
|
1283150 |
1992 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that this region is involved in a recombination event with the IDS gene in about 13% of patients with the Hunter syndrome.
|
7633410 |
1995 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Partial or complete deletions and large rearrangements have been extensively reported in the IDS gene as the basis of Hunter disease.
|
12579417 |
2003 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis II (MPS II) is a lysosomal storage disorder (LSD), caused by iduronate 2-sulphatase (IDS) enzyme dysfunction.
|
31039347 |
2019 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a lysosomal storage disease caused by deficiency of iduronate-2-sulfatase (IDS).
|
22227323 |
2012 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
We believe that we have developed a safe and effective gene therapy for treating MPS II, which led to recent IND approval for a phase 1/2 clinical trial in MPS II patients, further supporting the extended potential of the demonstrated systemic rAAV9 gene delivery platform for broad disease targets.
|
30191159 |
2018 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Antibodies to intravenous idursulfase enzyme replacement therapy (ERT) for patients with Hunter syndrome (mucopolysaccharidosis type II, MPS II) can have a harmful clinical impact, including both increasing risk of infusion reactions and inhibiting therapeutic activity.
|
28610913 |
2017 |
|
Mucopolysaccharidosis II
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.
|
28243577 |
2017 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hunter syndrome (mucopolysaccharidosis type II, or MPS II) results from a deficiency of iduronate-2-sulfatase (IDS) activity due to a primary genetic defect in the X-chromosomal iduronate-2-sulfatase gene.
|
8870917 |
1996 |