Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain [PDF]
Heliyon, 2019 Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona +8 more
doaj +3 more sources
The diagnosis and management of mucopolysaccharidosis type II [PDF]
Italian Journal of PediatricsMucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. With pathogenic variants of the IDS gene, the activity of iduronate-2-sulfatase (IDS) is reduced or lost, causing the inability to degrade ...
Shao-Jia Mao +4 more
doaj +2 more sources
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report [PDF]
Molecular Genetics and Metabolism ReportsMucopolysaccharidosis II (MPS II) is a lysosomal storage disease caused by a deficiency in iduronate-2-sulfatase (IDS), leading to the accumulation of dermatan sulfate and heparan sulfate in lysosomes.
Yusuke Hattori +5 more
doaj +2 more sources
Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey. [PDF]
JIMD RepABSTRACT Mucopolysaccharidosis II is a rare, X‐linked disease, with very few reports of affected female patients. Natural history data describe a predominantly male population, and appropriate disease characterization in female patients is lacking. This analysis explores the somatic disease burden and clinical progression of female patients with MPS II
Burton BK +10 more
europepmc +2 more sources
Genome Analysis of Planctomycetes Inhabiting Blades of the Red Alga [PDF]
, 2016 Porphyra is a macrophytic red alga of the Bangiales that is important ecologically and economically. We describe the genomes of three bacteria in the phylum Planctomycetes (designated P1, P2 and P3) that were isolated from blades of Porphyra umbilicalis (
A Stamatakis +88 more
core +15 more sources
Вопросы современной педиатрии, 2021 Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is X-linked hereditary disease from the group of lysosomal storage disease. Its prevalence is 3–7 cases per 1 million live-born boys.
Nato D. Vashakmadze +6 more
doaj +1 more source
Biodistribution of Idursulfase Formulated for Intrathecal Use (Idursulfase-IT) in Cynomolgus Monkeys after Intrathecal Lumbar Administration. [PDF]
PLoS ONE, 2016 Enzyme replacement therapy with intravenous idursulfase (recombinant iduronate-2-sulfatase) is approved for the treatment of Hunter syndrome. Intravenous administration does not, however, treat the neurological manifestations, due to its low central ...
Jou-Ku Chung +4 more
doaj +1 more source
Pharmacokinetics and bioavailability of a therapeutic enzyme (idursulfase) in cynomolgus monkeys after intrathecal and intravenous administration. [PDF]
PLoS ONE, 2015 Intravenous enzyme replacement therapy with iduronate-2-sulfatase is an approved treatment for Hunter syndrome, however, conventional intravenous delivery cannot treat the neurologic manifestations of the disease due to its limited central nervous system
Hongsheng Xie +3 more
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2023 Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by deficient activity of iduronate-2-sulfatase (I2S), leading to pathological accumulation of glycosaminoglycans (GAGs) in tissues. We used iduronate-2-sulfatase knockout
Nancy Chen +18 more
doaj +1 more source
Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign
Journal of Pediatric Research, 2021 Mucopolysaccharidosis type-II (MPS-II) is an X-linked lysosomal storage disorder. Here, we report an 8-year-old boy with pebbling sign in the scapular region, coarse facies, claw hand, diastolic murmur, and hepatomegaly.
Ayşe Hitay İnan +6 more
doaj +1 more source