Genomes and Genes
Affiliation: Saint Louis University
- 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
- 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
- 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. ..
- 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. ..
- 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. ..
- 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. ..
- 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...