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 |
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 |
Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial.
|
30595526 |
2019 |
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disorder resulting from the deficiency of the enzyme iduronate-2-sulfatase (IDS).This study described the molecular characteristics of 63 Chinese children with MPS II and investigated functional characterization of seven novel IDS variants.
|
30639582 |
2019 |
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we document a human induced pluripotent stem cell (iPSC) line generated from dermal fibroblasts of a patient with Hunter syndrome containing a hemizygous mutation of a 1 bp insertion at nucleotide 208 in exon 2 of the IDS gene.
|
31071499 |
2019 |
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
<b>Aim:</b> Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder caused by a deficiency of the iduronate-2-sulfatase enzyme leading to the accumulation of heparan sulfate (HS) and dermatan sulfate (DS) in organs and biological fluids. enzyme-replacement therapy is available for affected patients.
|
30994022 |
2019 |
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type II (MPSII) is a lysosomal storage disorder due to the deficit of the enzyme iduronate 2-sulfatase (IDS), which leads to the accumulation of glycosaminoglycans in most organ-systems, including the brain, and resulting in neurological involvement in about two-thirds of the patients.
|
31022913 |
2019 |
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this article is to demonstrate a rare case of Hunter syndrome in a girl caused by a mutation in the IDS gene inherited from the mother and the presence of chromosome X of paternal origin, partially deleted in the long arm region - 46,X,del(X)(q22.1).
|
31046699 |
2019 |
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 |
GeneticVariation
|
disease |
BEFREE |
Hunter syndrome (Mucopolysaccharidosis II, MPS II) is an X-linked lysosomal storage disease produced by the deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS).
|
29633336 |
2018 |
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hunter syndrome or mucopolysaccharidosis type II (MPSII) is a progressive multisystem X-linked lysosomal storage disease caused by mutations in the IDS gene that shows a wide spectrum of clinical symptoms and severity.
|
30024503 |
2018 |
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, a chaperone compound for mucopolysaccharidosis type II (MPS II), which is an X-linked lysosomal storage disorder characterized by a deficiency of iduronate-2-sulfatase (IDS) and the accumulation of glycosaminoglycans (GAGs), has still not been developed.
|
29289480 |
2018 |
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type II or Hunter syndrome is an X-linked lysosomal storage disease caused by a mutation in the gene encoding the lysosomal enzyme iduronate-2-sulfatase.
|
29618310 |
2018 |
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis II (MPS II) is an X-linked recessive lysosomal storage disease caused by mutations in the iduronate-2-sulfatase (IDS) gene.
|
29606503 |
2018 |
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
To evaluate physical functioning and daily activity limitations of patients with MPS II, the multidomain shortened Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) questionnaire was previously developed and preliminarily validated.
|
30409228 |
2018 |
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hunter syndrome (MPS II, OMIM 309900) is a lysosomal storage disorder due to deficient iduronate sulphatase activity.
|
28918469 |
2018 |
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II.
|
30042467 |
2018 |
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
We recently developed a BBB-penetrating IDS fusion protein, JR-141, and demonstrated its ability to reduce GAG accumulation in the brain of human transferrin receptor knock-in and Ids knock-out mice (TFRC-KI/Ids-KO), an animal model of MPS II, following intravenous administration.
|
30064964 |
2018 |
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We also show that MPSII patient fibroblasts harboring different mutations spanning the IDS gene exhibit perturbed FGF signaling-related markers expression.
|
29648648 |
2018 |
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type II (MPSII) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene (IDS, Xq28).
|
29168031 |
2018 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.
|
28077157 |
2017 |