Sukegawa K - Search Results

1

Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.

Tomatsu S, Orii KO, Vogler C, Grubb JH, Snella EM, Gutierrez MA, Dieter T, Sukegawa K, Orii T, Kondo N, Sly WS. Tomatsu S, et al. Among authors: sukegawa k. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14982-7. doi: 10.1073/pnas.232570999. Epub 2002 Oct 28. Proc Natl Acad Sci U S A. 2002. PMID: 12403825 Free PMC article.

2

Production of MPS VII mouse (Gus(tm(hE540A x mE536A)Sly)) doubly tolerant to human and mouse beta-glucuronidase.

Tomatsu S, Orii KO, Vogler C, Grubb JH, Snella EM, Gutierrez M, Dieter T, Holden CC, Sukegawa K, Orii T, Kondo N, Sly WS. Tomatsu S, et al. Among authors: sukegawa k. Hum Mol Genet. 2003 May 1;12(9):961-73. doi: 10.1093/hmg/ddg119. Hum Mol Genet. 2003. PMID: 12700165 Free PMC article.

3

Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.

Wu BM, Tomatsu S, Fukuda S, Sukegawa K, Orii T, Sly WS. Wu BM, et al. Among authors: sukegawa k. J Biol Chem. 1994 Sep 23;269(38):23681-8. J Biol Chem. 1994. PMID: 8089138 Free article.

4

Methylation patterns of the human beta-glucuronidase gene locus: boundaries of methylation and general implications for frequent point mutations at CpG dinucleotides.

Tomatsu S, Orii KO, Islam MR, Shah GN, Grubb JH, Sukegawa K, Suzuki Y, Orii T, Kondo N, Sly WS. Tomatsu S, et al. Among authors: sukegawa k. Genomics. 2002 Mar;79(3):363-75. doi: 10.1006/geno.2002.6706. Genomics. 2002. PMID: 11863366

5

Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.

Tomatsu S, Sukegawa K, Trandafirescu GG, Gutierrez MA, Nishioka T, Yamaguchi S, Orii T, Froissart R, Maire I, Chabas A, Cooper A, Di Natale P, Gal A, Noguchi A, Sly WS. Tomatsu S, et al. Among authors: sukegawa k. Eur J Hum Genet. 2006 Jul;14(7):838-45. doi: 10.1038/sj.ejhg.5201615. Epub 2006 Apr 12. Eur J Hum Genet. 2006. PMID: 16617305

6

[Mucopolysaccharidosis type VII: characterization of exonic point mutations and molecular heterogeneity].

Orii T, Tomatsu S, Fukuda S, Sukegawa K, Kondo N. Orii T, et al. Among authors: sukegawa k. Nihon Rinsho. 1993 Sep;51(9):2330-5. Nihon Rinsho. 1993. PMID: 8411710 Japanese.

7

Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation.

Yamada Y, Kato K, Sukegawa K, Tomatsu S, Fukuda S, Emura S, Kojima S, Matsuyama T, Sly WS, Kondo N, Orii T. Yamada Y, et al. Among authors: sukegawa k. Bone Marrow Transplant. 1998 Mar;21(6):629-34. doi: 10.1038/sj.bmt.1701141. Bone Marrow Transplant. 1998. PMID: 9543069

8

[Mucopolysaccharidosis type VII (Sly disease)].

Sukegawa K, Tomatsu S, Kondo N, Orii T. Sukegawa K, et al. Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):449-52. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9645106 Review. Japanese. No abstract available.

9

Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.

Montaño AM, Sukegawa K, Kato Z, Carrozzo R, Di Natale P, Christensen E, Orii KO, Orii T, Kondo N, Tomatsu S. Montaño AM, et al. Among authors: sukegawa k. J Inherit Metab Dis. 2007 Oct;30(5):758-67. doi: 10.1007/s10545-007-0702-z. Epub 2007 Sep 17. J Inherit Metab Dis. 2007. PMID: 17876718

10

Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.

Yamada S, Tomatsu S, Sly WS, Islam R, Wenger DA, Fukuda S, Sukegawa K, Orii T. Yamada S, et al. Among authors: sukegawa k. Hum Mol Genet. 1995 Apr;4(4):651-5. doi: 10.1093/hmg/4.4.651. Hum Mol Genet. 1995. PMID: 7633414

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