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Article
The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology
Mucopolysaccharidosis II (MPS II) is caused by a deficiency of iduronate-2-sulfatase that results in accumulation of glycosaminoglycans (GAG), including heparan sulfate (HS), which is considered to contribute ...
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Article
Thermal effects on the growth and fatty acid composition of four harmful algal bloom species: Possible implications for ichthyotoxicity
Little is known regarding how harmful algal bloom species respond to different temperatures in terms of fatty acid production. This study examined the effects of temperature on the growth rates, cell volumes, ...
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Article
The feasibility of assessing the diets of minke whale (Balaenoptera acutorostrata) in the East Sea through fatty acid composition in blubber and stable isotopic ratio of skin
To track the diet of minke whale (Balaenoptera acutorostrata) in the East Sea (Japan Sea), a conjoint analysis of fatty acids and C and N stable isotopes was performed on blubber and skin from the whale and its p...
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Article
Open AccessEffect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II
Mucopolysaccharidosis type II (MPS II, Hunter syndrome), is caused by a deficiency of iduronate-2-sulfatase (IDS). Despite the therapeutic effect of intravenous enzyme replacement therapy (ERT), the central ne...
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Article
Open AccessDecreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome
Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of alpha-L-iduronidase (IDUA), which is involved in the degradation of glycosaminoglycans (GAGs), such as heparan sulfate and dermatan sulfate i...
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Article
A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome
Mucopolysaccharidosis II (MPS II, Hunter syndrome; OMIM 309900) is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to accumulation of glycosamino...
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Article
Open AccessClinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiency
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Article
Open AccessPhase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)
Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase (IDS). In affected patients, glycosaminoglycan (GAG) accumulat...
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Article
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia
Sclerosteosis and Van Buchem disease are related recessive sclerosing bone dysplasias caused by alterations in the SOST gene. We tested the hypothesis that craniodiaphyseal dysplasia (CDD) (MIM 122860), an extrem...
