Search Results - "Tomatsu, S"

Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA by Hendriksz, C.J., Harmatz, P., Beck, M., Jones, S., Wood, T., Lachman, R., Gravance, C.G., Orii, T., Tomatsu, S.

“…Mucopolysaccharidosis type IVA (MPS IVA) was described in 1929 by Luis Morquio from Uruguay and James Brailsford from England, and was later found as an…”
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International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease by Montaño, A. M., Tomatsu, S., Gottesman, G. S., Smith, M., Orii, T.

“…Summary Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is a lysosomal storage disorder caused by deficiency of N‐acetylgalactosamine‐6‐sulfate…”
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Effect of ‘attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase by Montaño, A. M, Sukegawa, K, Kato, Z, Carrozzo, R, Di Natale, P, Christensen, E, Orii, K. O, Orii, T, Kondo, N, Tomatsu, S

“…Mucopolysaccharidosis IVA is an autosomal recessive disease caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation screening…”
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Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate‐2‐sulfatase: Enzymatic activity, protein processing and structural analysis by Sukegawa‐Hayasaka, K., Kato, Z., Nakamura, H., Tomatsu, S., Fukao, T., Kuwata, K., Orii, T., Kondo, N.

“…Summary Mucopolysaccharidosis II (Hunter disease), a lysosomal storage disorder caused by a deficiency of iduronate‐2‐sulfatase (IDS), has variable clinical…”
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Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns−/−) produced by targeted disruption of the gene defective in Morquio A disease by Tomatsu, Shunji, Orii, Koji O., Vogler, Carole, Nakayama, Jun, Levy, Beth, Grubb, Jeffrey H., Gutierrez, Monica A., Shim, Soomin, Yamaguchi, Seiji, Nishioka, Tatsuo, Montaño, Adriana Maria, Noguchi, Akihiko, Orii, Tadao, Kondo, Naomi, Sly, William S.

“…Mucopolysaccharidosis IVA is an autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), a lysosomal enzyme…”
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Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses by Tomatsu, S., Gutierrez, M. A., Ishimaru, T., Peña, O. M., Montaño, A. M., Maeda, H., Velez‐Castrillon, S., Nishioka, T., Fachel, A. A., Cooper, A., Thornley, M., Wraith, E., Barrera, L. A., Laybauer, L. S., Giugliani, R., Schwartz, I. V., Frenking, G. Schulze, Beck, M., Kircher, S. G., Paschke, E., Yamaguchi, S., Ullrich, K., Isogai, K., Suzuki, Y., Orii, T., Noguchi, A.

“…Summary Glycosaminoglycans are accumulated in both mucopolysaccharidoses (MPS) and mucolipidoses (ML). MPS I, II, III and VII and ML II and ML III patients…”
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Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene by Tomatsu, S, Nishioka, T, Montaño, A M, Gutierrez, M A, Pena, O S, Orii, K O, Sly, W S, Yamaguchi, S, Orii, T, Paschke, E, Kircher, S G, Noguchi, A

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Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses by Tomatsu, S., Okamura, K., Maeda, H., Taketani, T., Castrillon, S. V., Gutierrez, M. A., Nishioka, T., Fachel, A. A., Orii, K. O., Grubb, J. H., Cooper, A., Thornley, M., Wraith, E., Barrera, L. A., Laybauer, L. S., Giugliani, R., Schwartz, I. V., Frenking, G. Schulze, Beck, M., Kircher, S. G., Paschke, E., Yamaguchi, S., Ullrich, K., Haskins, M., Isogai, K., Suzuki, Y., Orii, T., Kondo, N., Creer, M., Okuyama, T., Tanaka, A., Noguchi, A.

“…Summary The mucopolysaccharidoses (MPS) is characterized by accumulation of glycosaminoglycans (GAGs), and mucolipidosis (ML) by accumulation of GAGs and…”
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Production of MPS VII mouse (Gustm(hE540A·mE536A)Sly) doubly tolerant to human and mouse β-glucuronidase by Tomatsu, Shunji, Orii, Koji O., Vogler, Carole, Grubb, Jeffrey H., Snella, Elizabeth M., Gutierrez, Monica, Dieter, Tatiana, Holden, Christopher C., Sukegawa, Kazuko, Orii, Tadao, Kondo, Naomi, Sly, William S.

“…Mucopolysaccharidosis VII (MPS VII, Sly syndrome) is an autosomal recessive lysosomal storage disease caused by β-glucuronidase (GUS) deficiency. A naturally…”
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GALNS gene expression profiling in Morquio A patients' fibroblasts by Carraresi, L., Parini, R., Filoni, C., Caciotti, A., Sersale, G., Tomatsu, S., Orlando, C., Zammarchi, E., Guerrini, R., Donati, M.A., Morrone, A.

“…Quantification studies of mutated mRNAs have not been carried out on Morquio A patients. Such studies are very important for the determination of stability of…”
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Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation by YAMADA, Y, KATO, K, ORII, T, SUKEGAWA, K, TOMATSU, S, FUKUDA, S, EMURA, S, KOJIMA, S, MATSUYAMA, T, SLY, W. S, KONDO, N

“…A 12-year-old girl with Sly disease (mucopolysaccharidosis VII; beta-glucuronidase deficiency), who is homozygous for the A619V mutation, had a successful…”
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Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro by Toietta, G, Severini, G M, Traversari, C, Tomatsu, S, Sukegawa, K, Fukuda, S, Kondo, N, Tortora, P, Bordignon, C

“…Gene therapy may provide a long-term approach to the treatment of mucopolysaccharidoses. As a first step toward the development of an effective gene therapy…”
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Human peroxisome assembly factor-2 (PAF-2) : A gene responsible for group C peroxisome biogenesis disorder in humans by FUKUDA, S, SHIMOZAWA, N, KUROKI, Y, FUJIKI, Y, ORII, T, KONDO, N, SUZUKI, Y, ZHANG, Z, TOMATSU, S, TSUKAMOTO, T, HASHIGUCHI, N, OSUMI, T, MASUNO, M, IMAIZUMI, K

“…Peroxisome-biogenesis disorders (PBD) are genetically heterogeneous and can be classified into at least ten complementation groups. We recently isolated the…”
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SELECTION OF GENOME EDITED HEMATOPOIETIC STEM CELLS PRIOR TO TRANSPLANTATION DECREASES THE ENGRAFTMENT POTENTIAL AND THERAPEUTIC EFFICACY by Poletto, E, Colella, P, Sheikali, A, Khan, S, Tomatsu, S, Baldo, G, Gomez-Ospina, N

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Buddhist Care for the Dying and Bereaved by Watts, Jonathan, Tomatsu , Yoshiharu

“…Since its beginning, Buddhism has been intimately concerned with confronting and understanding death and dying. Indeed, the tradition emphasizes turning toward…”
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Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings by Wu, B M, Tomatsu, S, Fukuda, S, Sukegawa, K, Orii, T, Sly, W S

“…Two beta-glucuronidase-deficient Mennonite siblings were found to be homozygous for a mutation in exon 3 of the beta-glucuronidase gene that produces a…”
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Glycosaminoglycans in neonatal urine by Iwata, S, Sukegawa, K, Kokuryu, M, Tomatsu, S, Kondo, N, Iwasa, S, Orii, T

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Mutation analysis in the iduronate‐2‐sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease) by Isogai, K., Sukegawa, K., Tomatsu, S., Fukao, T., Song, X‐Q., Yamada, Y., Fukuda, S., Orii, T., Kondo, N.

“…Our series of studies on Hunter disease in Japanese patients showed allelic heterogeneity of IDS gene mutations, genotype/phenotype correlation and racial…”
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Polymorphism in the GALNS gene by Tomatsu, S, Fukuda, S, Iwata, H, Ogawa, T, Sukegawa, K, Orii, T

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Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy by Uchiyama, A, Suzuki, Y, Song, X Q, Fukao, T, Imamura, A, Tomatsu, S, Shimozawa, N, Kondo, N, Orii, T

“…The molecular basis of X-linked adrenoleukodystrophy (ALD) was investigated. Six (A to 50) fragments of cDNA for ALD protein (Mosser et al. Nature 361:…”
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