Shunji Tomatsu

Summary

Affiliation: Saint Louis University
Country: USA

Publications

  1. pmc Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase
    Shunji Tomatsu
    Edward A Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St Louis, MO 63104, USA
    Hum Mol Genet 12:961-73. 2003
  2. ncbi request reprint Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase
    Shunji Tomatsu
    Department of Pediatrics, Pediatric Research Institute, Saint Louis University, MO 63110, USA
    Hum Mol Genet 14:3321-35. 2005
  3. pmc Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide
    Tatsuo Nishioka
    Department of Pediatrics, Cardinal Glennon Children s Hospital, Saint Louis University, St Louis, MO, USA
    Mol Genet Metab 88:244-55. 2006
  4. ncbi request reprint Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase
    Shunji Tomatsu
    Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St Louis, MO 63110 2586, USA
    Mol Genet Metab 91:69-78. 2007
  5. ncbi request reprint Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment
    S Tomatsu
    Department of Pediatrics, Saint Louis University, MO 63104, USA
    Curr Pharm Biotechnol 12:931-45. 2011
  6. doi request reprint Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry
    Shunji Tomatsu
    Department of Pediatrics, Saint Louis University Doisy Research Center, 1100 South Grand Blvd, St Louis, MO 63104, USA
    J Inherit Metab Dis 33:S35-42. 2010
  7. ncbi request reprint Methylation patterns of the human beta-glucuronidase gene locus: boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides
    Shunji Tomatsu
    E A Doisy Department of Biochemistry and Molecular Biology, St Louis University School of Medicine, 1402 S Grand Blvd, St Louis, Missouri, 63104, USA
    Genomics 79:363-75. 2002
  8. ncbi request reprint Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)
    Shunji Tomatsu
    Department of Pediatrics, Pediatric Research Institute, Saint Louis University, St Louis, Missouri 63110 2586, USA
    Hum Mutat 26:500-12. 2005
  9. ncbi request reprint Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations
    Shunji Tomatsu
    Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St Louis, MO 63110 2586, USA
    Eur J Hum Genet 14:838-45. 2006
  10. ncbi request reprint Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene
    Shunji Tomatsu
    Department of Pediatrics, Cardinal Glennon Children s Hospital, Saint Louis University, 1465 S Grand Blvd, St Louis, MO 63104, USA
    Mol Genet Metab 89:139-49. 2006

Collaborators

Detail Information

Publications36

  1. pmc Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase
    Shunji Tomatsu
    Edward A Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St Louis, MO 63104, USA
    Hum Mol Genet 12:961-73. 2003
    ..Corrective gene therapy in this model should provide high enough levels of expression of normal GUS monomers to overcome the dominant negative effect of mutant monomers on newly synthesized GUS tetramers in most tissues...
  2. ncbi request reprint Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase
    Shunji Tomatsu
    Department of Pediatrics, Pediatric Research Institute, Saint Louis University, MO 63110, USA
    Hum Mol Genet 14:3321-35. 2005
    ..The newly generated MPS IVA mouse model should provide a good model to evaluate long-term administration of enzyme replacement...
  3. pmc Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide
    Tatsuo Nishioka
    Department of Pediatrics, Cardinal Glennon Children s Hospital, Saint Louis University, St Louis, MO, USA
    Mol Genet Metab 88:244-55. 2006
    ..They suggest potential advantages for use of these tagged enzymes in ERT for hypophosphatasia, which should be explored...
  4. ncbi request reprint Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase
    Shunji Tomatsu
    Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St Louis, MO 63110 2586, USA
    Mol Genet Metab 91:69-78. 2007
    ..In conclusion, we have shown that the phosphorylated rhGALNS is delivered to multiple tissues, including bone, and that it functions bioactively in Galns(-/-) chondrocytes implying a potential enzyme replacement treatment...
  5. ncbi request reprint Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment
    S Tomatsu
    Department of Pediatrics, Saint Louis University, MO 63104, USA
    Curr Pharm Biotechnol 12:931-45. 2011
    ..The issue of treating very young patients is also discussed...
  6. doi request reprint Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry
    Shunji Tomatsu
    Department of Pediatrics, Saint Louis University Doisy Research Center, 1100 South Grand Blvd, St Louis, MO 63104, USA
    J Inherit Metab Dis 33:S35-42. 2010
    ..1 µg/ml) (P = 0.012). We also found elevated blood KS levels in other types of MPS. These findings indicate that the new KS assay for blood is suitable for early diagnosis and longitudinal assessment of disease severity in MPS IVA...
  7. ncbi request reprint Methylation patterns of the human beta-glucuronidase gene locus: boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides
    Shunji Tomatsu
    E A Doisy Department of Biochemistry and Molecular Biology, St Louis University School of Medicine, 1402 S Grand Blvd, St Louis, Missouri, 63104, USA
    Genomics 79:363-75. 2002
    ....
  8. ncbi request reprint Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)
    Shunji Tomatsu
    Department of Pediatrics, Pediatric Research Institute, Saint Louis University, St Louis, Missouri 63110 2586, USA
    Hum Mutat 26:500-12. 2005
    ....
  9. ncbi request reprint Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations
    Shunji Tomatsu
    Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St Louis, MO 63110 2586, USA
    Eur J Hum Genet 14:838-45. 2006
    ..These findings suggest methylation patterns in the beginning of IDS genomic region are polymorphic in humans and that hypermethylation in this region in some individuals predisposes them to CpG mutations resulting in Hunter syndrome...
  10. ncbi request reprint Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene
    Shunji Tomatsu
    Department of Pediatrics, Cardinal Glennon Children s Hospital, Saint Louis University, 1465 S Grand Blvd, St Louis, MO 63104, USA
    Mol Genet Metab 89:139-49. 2006
    ....
  11. ncbi request reprint Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins
    Shunji Tomatsu
    Department of Pediatrics, Saint Louis University, Pediatric Research Institute, 3662 Park Ave, St Louis, MO 63110 2586, USA
    Mol Genet Metab 91:251-8. 2007
    ..mC76S)slu) mice was due to deficiency of other sulfatases caused by oversaturation of the sulfate modifying enzyme by the inactive human gene product...
  12. ncbi request reprint Enzyme replacement therapy in a murine model of Morquio A syndrome
    Shunji Tomatsu
    Department of Pediatrics, St Louis University, Doisy Research Center, 1100 South Grand Blvd, Room 307, St Louis, MO 63104, USA
    Hum Mol Genet 17:815-24. 2008
    ..These preclinical studies demonstrate the clearance of tissue and blood KS by administered GALNS, providing the in vivo rationale for the design of ERT trials in MPS IVA...
  13. pmc Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)
    Shunji Tomatsu
    Department of Pediatrics, Saint Louis University School of Medicine, St Louis, Missouri 63104, USA
    Hum Mutat 30:511-9. 2009
    ..These were in turn correlated with the location of the mutation in the tertiary structure of GUS. A total of seven murine, one feline, and one canine model of MPS VII have been characterized for phenotype and genotype...
  14. doi request reprint Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry
    Shunji Tomatsu
    Department of Pediatrics, Saint Louis University, St Louis, MO, United States
    Mol Genet Metab 99:124-31. 2010
    ..0001). These findings suggest measurement of DS and/or HS levels by LC/MS/MS is applicable to the screening for MPS I, II, III and VI patients...
  15. doi request reprint Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I
    Shunji Tomatsu
    Department of Pediatrics, Saint Louis University, St Louis, MO 63104, USA
    J Inherit Metab Dis 33:141-50. 2010
    ..In conclusion, blood and urine levels of DS and HS provide an intrinsic monitoring and screening tool for MPS I patients...
  16. pmc Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome
    Shunji Tomatsu
    Department of Pediatrics, Saint Louis University, St Louis, Missouri 63104, USA
    Mol Ther 18:1094-102. 2010
    ..These findings indicate the feasibility of using tagged enzyme to enhance delivery and pathological effectiveness in Morquio A mice...
  17. ncbi request reprint Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses
    S Tomatsu
    Department of Pediatrics, Cardinal Glennon Children s Hospital, Saint Louis University, MO 63110 2586, USA
    J Inherit Metab Dis 28:743-57. 2005
    ..These findings suggest that HS concentration determined by ELISA, especially in plasma, could be a helpful marker for detection of the most severe MPS I, II, III, VI and VII and ML II, distinguishing them from normal populations...
  18. ncbi request reprint General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus
    Shunji Tomatsu
    Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St Louis, Missouri 63110 2586, USA
    Hum Mutat 23:590-8. 2004
    ....
  19. pmc Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene
    S Tomatsu
    Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St Louis, MO 63110 2586, USA
    J Med Genet 41:e98. 2004
  20. ncbi request reprint Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease
    Shunji Tomatsu
    Edward A Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, 1402 S Grand Blvd, St Louis, MO 63104, USA
    Hum Mol Genet 12:3349-58. 2003
    ..The complete absence of GALNS in mutant mice makes them useful for studies of pharmacokinetics and tissue targeting of recombinant GALNS designed for enzyme replacement...
  21. ncbi request reprint Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients
    Shunji Tomatsu
    Department of Pediatrics, Saint Louis University, Pediatric Research Institute St Louis, Missouri, USA
    Hum Mutat 24:187-8. 2004
    ..These data provide further evidence for extensive allelic heterogeneity and importance of relation among genotype, phenotype, and urine KS excretion as a biomarker in MPS IVA...
  22. ncbi request reprint Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate
    Shunji Tomatsu
    Department of Pediatrics, Pediatric Research Institute, Saint Louis University, 3662 Park Ave, St Louis, MO 63110 2586, USA
    J Hum Genet 49:490-4. 2004
    ..Accumulation of mutations with clinical description and KS concentration will lead us to predict clinical severity of the patient more precisely...
  23. ncbi request reprint Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses
    S Tomatsu
    Department of Pediatrics, Cardinal Glennon Children s Hospital, Saint Louis University, St Louis, MO, USA
    J Inherit Metab Dis 28:187-202. 2005
    ..This finding suggests that measurement of KS level provides a new diagnostic biomarker in a wide variety of mucopolysaccharidoses and mucolipidoses in addition to MPS IV...
  24. ncbi request reprint Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA
    Shunji Tomatsu
    Edward A Doisy Department of Biochemistry and Molecular Biology, St Louis University School of Medicine, 1402 S Grand Blvd, St Louis, MO 63104, USA
    Pediatr Res 55:592-7. 2004
    ..7 times greater urine KS excretion than the milder one. These findings indicate that the new assay for blood or urine KS may be suitable for early diagnosis and longitudinal assessment of disease severity in MPS IVA...
  25. pmc Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis
    Shunji Tomatsu
    Edward A Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St Louis, MO 63104, USA
    Proc Natl Acad Sci U S A 100:15788-93. 2003
    ..These observations indicate that the H67D mutation leads to partial loss of Hfe function and can contribute to murine HH...
  26. pmc Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis
    Shunji Tomatsu
    Edward A Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, MO 63104, USA
    Proc Natl Acad Sci U S A 99:14982-7. 2002
    ....
  27. doi request reprint Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice
    Adriana M Montano
    Department of Pediatrics, Saint Louis University, 1100 South Grand Boulevard, St Louis, MO 63104, USA
    Mol Genet Metab 94:178-89. 2008
    ..These preclinical studies suggest that this AAA-based targeting system may enhance enzyme-replacement therapy...
  28. pmc Enzyme therapy in mannose receptor-null mucopolysaccharidosis VII mice defines roles for the mannose 6-phosphate and mannose receptors
    William S Sly
    Edward A Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, 1402 South Grand Boulevard, St Louis, MO 63104, USA
    Proc Natl Acad Sci U S A 103:15172-7. 2006
    ..This approach delivers a larger fraction of enzyme to MPR-expressing tissues, thus enhancing the effectiveness of MPR-targeted ERT...
  29. pmc Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII
    Daniel J Rowan
    School of Medicine, Saint Louis University, St Louis, MO, USA
    J Inherit Metab Dis 36:235-46. 2013
    ..These studies suggest that KS could be released from chondrocytes affected by accumulation of other GAGs and that KS could be useful as a biomarker for severity of bone dysplasia in MPS disorders...
  30. pmc Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model
    Daniel J Rowan
    School of Medicine, Saint Louis University, St Louis, MO, USA
    Mol Genet Metab 107:161-72. 2012
    ..In conclusion, long-circulating PerT-GUS provides a significant impact to rescue of bone lesions and CNS involvement...
  31. pmc Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine
    Jonathan P Hintze
    Department of Pediatrics, School of Medicine, Saint Louis University, St Louis, MO, USA
    Biomark Insights 6:69-78. 2011
    ..Therefore, an accurate and sensitive method is required to measure KS levels...
  32. doi request reprint Growth charts for patients affected with Morquio A disease
    Adriana M Montano
    Department of Pediatrics, Saint Louis University, St Louis, Missouri 63104, USA
    Am J Med Genet A 146:1286-95. 2008
    ..This is the first report providing growth charts for patients with Morquio A, which can help with monitoring the disease and assessing the clinical efficacy of treatments...
  33. pmc Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis
    Abdul Waheed
    Edward A Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St Louis, MO 63104, USA
    Proc Natl Acad Sci U S A 99:3117-22. 2002
    ....
  34. ncbi request reprint Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype
    Adriana Maria Montano
    Department of Pediatrics, Gifu University School of Medicine, Tsukasa machi 40, 500 8705 Gifu City, Japan
    Hum Genet 113:162-9. 2003
    ..On the other hand, A291 and W230 are localized near the active site. The molecular characteristics of the D60N mutation explain the attenuated clinical phenotype of the patients...
  35. ncbi request reprint Analytical method for the determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid chromatography/turbo ionspray ionization tandem mass spectrometry
    Toshihiro Oguma
    Drug Metabolism and Pharmacokinetics Research Laboratory, Shinagawa ku, Tokyo 140 8710
    Anal Biochem 368:79-86. 2007
    ..8% for five replicate analyses with three human control samples. The interday (overall, n=15) precision was within 14.8% for 3 days. This method is sensitive and reproducible, and it would be useful for clinical diagnosis...
  36. ncbi request reprint Analytical method for determination of disaccharides derived from keratan sulfates in human serum and plasma by high-performance liquid chromatography/turbo-ionspray ionization tandem mass spectrometry
    Toshihiro Oguma
    Drug Metabolism and Physicochemistry Research Laboratory, Daiichi Pharmaceutical Co Ltd, 1 16 13 Kita Kasai, Edogawa ku, Tokyo 134 8630, Japan
    Biomed Chromatogr 21:356-62. 2007
    ..8% for five replicate analyses with three different control serum. The inter-day (overall, n = 15) precision was within 7.3% for three days. This method is sensitive, reproducible and would be useful for clinical analysis...