Research Topics
Genomes and Genes | Shunji TomatsuSummaryAffiliation: Saint Louis University Country: USA Publications
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Publications
Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidaseShunji 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...
Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfataseShunji 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...- Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptideTatsuo 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... - Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfataseShunji 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... - Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatmentS 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... - Methylation patterns of the human beta-glucuronidase gene locus: boundaries of methylation and general implications for frequent point mutations at CpG dinucleotidesShunji 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.... - 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.... - Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutationsShunji 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... - Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA geneShunji 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.... - Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteinsShunji 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... - Enzyme replacement therapy in a murine model of Morquio A syndromeShunji 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... - 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... 
Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometryShunji 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...- Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis IShunji 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... - Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndromeShunji 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... - Heparan sulfate levels in mucopolysaccharidoses and mucolipidosesS 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... - Keratan sulphate levels in mucopolysaccharidoses and mucolipidosesS 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... - Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfateShunji 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... - Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A diseaseShunji 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... - Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patientsShunji 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... - Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS geneS Tomatsu
Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St. Louis, MO 63110-2586, USA
J Med Genet 41:e98. 2004 - Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVAShunji 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... - General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locusShunji Tomatsu
Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St Louis, Missouri 63110 2586, USA
Hum Mutat 23:590-8. 2004.... - Contribution of the H63D mutation in HFE to murine hereditary hemochromatosisShunji 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... - Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII miceAdriana 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... - Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesisShunji 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.... - Enzyme therapy in mannose receptor-null mucopolysaccharidosis VII mice defines roles for the mannose 6-phosphate and mannose receptorsWilliam 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... - Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine modelDaniel 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... - Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urineJonathan 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... - Growth charts for patients affected with Morquio A diseaseAdriana 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... - Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosisAbdul 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.... - Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotypeAdriana 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... - 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 spectrometryToshihiro 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... - 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 spectrometryToshihiro 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...