Shunji Tomatsu


Affiliation: Saint Louis University
Country: USA


  1. Tomatsu S, Gutierrez M, Nishioka T, Yamada M, Yamada M, Tosaka Y, et al. Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. Hum Mol Genet. 2005;14:3321-35 pubmed
    ..The newly generated MPS IVA mouse model should provide a good model to evaluate long-term administration of enzyme replacement. ..
  2. Tomatsu S, Montano A, Oikawa H, Smith M, Barrera L, Chinen Y, et al. Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol. 2011;12:931-45 pubmed
    ..The issue of treating very young patients is also discussed. ..
  3. Tomatsu S, Montano A, Oguma T, Dung V, Oikawa H, de Carvalho T, et al. Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry. J Inherit Metab Dis. 2010;33 Suppl 3:S35-42 pubmed publisher
    ..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. ..
  4. Tomatsu S, Montano A, Oguma T, Dung V, Oikawa H, de Carvalho T, et al. Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I. J Inherit Metab Dis. 2010;33:141-50 pubmed publisher
    ..In conclusion, blood and urine levels of DS and HS provide an intrinsic monitoring and screening tool for MPS I patients. ..
  5. Tomatsu S, Okamura K, Taketani T, Orii K, Nishioka T, Gutierrez M, et al. Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res. 2004;55:592-7 pubmed
    ..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. ..
  6. Tomatsu S, Dieter T, Schwartz I, Sarmient P, Giugliani R, Barrera L, et al. Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. J Hum Genet. 2004;49:490-4 pubmed
    ..Accumulation of mutations with clinical description and KS concentration will lead us to predict clinical severity of the patient more precisely. ..
  7. Tomatsu S, Filocamo M, Orii K, Sly W, Gutierrez M, Nishioka T, et al. Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients. Hum Mutat. 2004;24:187-8 pubmed
    ..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. ..
  8. Tomatsu S, Okamura K, Maeda H, Taketani T, Castrillon S, Gutierrez M, et al. Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis. 2005;28:187-202 pubmed
    ..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...
  9. Tomatsu S, Gutierrez M, Ishimaru T, Peña O, Montano A, Maeda H, et al. Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis. 2005;28:743-57 pubmed
    ..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...

More Information


  1. Tomatsu S, Montano A, Nishioka T, Gutierrez M, Pena O, Tranda Firescu G, et al. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum Mutat. 2005;26:500-12 pubmed
  2. Tomatsu S, Montano A, Lopez P, Trandafirescu G, Gutierrez M, Oikawa H, et al. Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. Mol Genet Metab. 2006;89:139-49 pubmed
  3. Tomatsu S, Montano A, Dung V, Grubb J, Sly W. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat. 2009;30:511-9 pubmed publisher
    ..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. ..
  4. Tomatsu S, Orii K, Vogler C, Nakayama J, Levy B, Grubb J, et al. Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. Hum Mol Genet. 2003;12:3349-58 pubmed
    ..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. ..
  5. Tomatsu S, Sukegawa K, Trandafirescu G, Gutierrez M, Nishioka T, Yamaguchi S, et al. Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations. Eur J Hum Genet. 2006;14:838-45 pubmed
    ..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. ..
  6. Tomatsu S, Vogler C, Montano A, Gutierrez M, Oikawa H, Dung V, et al. 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;91:251-8 pubmed
    ..mC76S)slu) mice was due to deficiency of other sulfatases caused by oversaturation of the sulfate modifying enzyme by the inactive human gene product. ..
  7. Tomatsu S, Montano A, Oguma T, Dung V, Oikawa H, Gutiérrez M, et al. Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry. Mol Genet Metab. 2010;99:124-31 pubmed publisher
    ..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...