Below are the most recent publications written about "Iduronate Sulfatase" by people in Profiles.
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Tomatsu S, Vogler C, Monta?o AM, Gutierrez M, Oikawa H, Dung VC, Orii T, Noguchi A, Sly WS. Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. Mol Genet Metab. 2007 Jul; 91(3):251-8.
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Sukegawa-Hayasaka K, Kato Z, Nakamura H, Tomatsu S, Fukao T, Kuwata K, Orii T, Kondo N. Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis. J Inherit Metab Dis. 2006 Dec; 29(6):755-61.
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Tomatsu S, Orii KO, Bi Y, Gutierrez MA, Nishioka T, Yamaguchi S, Kondo N, Orii T, Noguchi A, Sly WS. General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus. Hum Mutat. 2004 Jun; 23(6):590-8.
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Sukegawa K, Matsuzaki T, Fukuda S, Masuno M, Fukao T, Kokuryu M, Iwata S, Tomatsu S, Orii T, Kondo N. Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation. Clin Genet. 1998 Feb; 53(2):96-101.
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Isogai K, Sukegawa K, Tomatsu S, Fukao T, Song XQ, Yamada Y, Fukuda S, Orii T, Kondo N. Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). J Inherit Metab Dis. 1998 Feb; 21(1):60-70.
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Sukegawa K, Tomatsu S, Kondo N, Orii T. [Mucopolysaccharidosis type II (Hunter syndrome)]. Ryoikibetsu Shokogun Shirizu. 1998; (19 Pt 2):435-8.
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Sukegawa K, Song XQ, Masuno M, Fukao T, Shimozawa N, Fukuda S, Isogai K, Nishio H, Matsuo M, Tomatsu S, Kondo N, Orii T. Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele. Hum Mutat. 1997; 10(5):361-7.
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Sukegawa K, Tomatsu S, Fukao T, Iwata H, Song XQ, Yamada Y, Fukuda S, Isogai K, Orii T. Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. Hum Mutat. 1995; 6(2):136-43.
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Yamada Y, Tomatsu S, Sukegawa K, Suzuki Y, Kondo N, Hopwood JJ, Orii T. Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families. Hum Genet. 1993 Sep; 92(2):110-4.
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Sukegawa K, Tomatsu S, Tamai K, Ikeda M, Sasaki T, Masue M, Fukuda S, Yamada Y, Orii T. Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene. Biochem Biophys Res Commun. 1992 Mar 16; 183(2):809-13.