Sly W - Search Results

1

A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

Vervoort R, Islam MR, Sly W, Chabas A, Wevers R, de Jong J, Liebaers I, Lissens W. Vervoort R, et al. Among authors: sly w. Am J Hum Genet. 1995 Oct;57(4):798-804. Am J Hum Genet. 1995. PMID: 7573038 Free PMC article.

2

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

Vervoort R, Islam MR, Sly WS, Zabot MT, Kleijer WJ, Chabas A, Fensom A, Young EP, Liebaers I, Lissens W. Vervoort R, et al. Among authors: sly ws. Am J Hum Genet. 1996 Mar;58(3):457-71. Am J Hum Genet. 1996. PMID: 8644704 Free PMC article.

3

beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients.

Islam MR, Vervoort R, Lissens W, Hoo JJ, Valentino LA, Sly WS. Islam MR, et al. Among authors: sly ws. Hum Genet. 1996 Sep;98(3):281-4. doi: 10.1007/s004390050207. Hum Genet. 1996. PMID: 8707294

4

Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13.

Speleman F, Vervoort R, van Roy N, Liebaers I, Sly WS, Lissens W. Speleman F, et al. Among authors: sly ws. Cytogenet Cell Genet. 1996;72(1):53-5. doi: 10.1159/000134161. Cytogenet Cell Genet. 1996. PMID: 8565635

5

PCR-based restriction fragment length polymorphism and haplotype of the most common mutation L176F in the beta-glucuronidase gene.

Islam MR, Shah GN, Sly WS. Islam MR, et al. Genet Test. 2007 Spring;11(1):72-4. doi: 10.1089/gte.2006.0505. Genet Test. 2007. PMID: 17394395

6

C-terminal processing of human beta-glucuronidase. The propeptide is required for full expression of catalytic activity, intracellular retention, and proper phosphorylation.

Islam MR, Grubb JH, Sly WS. Islam MR, et al. Among authors: sly ws. J Biol Chem. 1993 Oct 25;268(30):22627-33. J Biol Chem. 1993. PMID: 8226771 Free article.

7

Enhanced translation of rat beta-glucuronidase cDNA is conferred by 155-bp segment of internal coding sequence.

Islam MR, Shah GN, Sly WS. Islam MR, et al. Among authors: sly ws. Arch Biochem Biophys. 1996 Sep 15;333(2):385-93. doi: 10.1006/abbi.1996.0405. Arch Biochem Biophys. 1996. PMID: 8809077

8

Human egasyn binds beta-glucuronidase but neither the esterase active site of egasyn nor the C terminus of beta-glucuronidase is involved in their interaction.

Islam MR, Waheed A, Shah GN, Tomatsu S, Sly WS. Islam MR, et al. Among authors: sly ws. Arch Biochem Biophys. 1999 Dec 1;372(1):53-61. doi: 10.1006/abbi.1999.1449. Arch Biochem Biophys. 1999. PMID: 10562416

9

Active site residues of human beta-glucuronidase. Evidence for Glu(540) as the nucleophile and Glu(451) as the acid-base residue.

Islam MR, Tomatsu S, Shah GN, Grubb JH, Jain S, Sly WS. Islam MR, et al. Among authors: sly ws. J Biol Chem. 1999 Aug 13;274(33):23451-5. doi: 10.1074/jbc.274.33.23451. J Biol Chem. 1999. PMID: 10438523 Free article.

10

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. Genomics. 2002 Mar;79(3):363-75. doi: 10.1006/geno.2002.6706. Genomics. 2002. PMID: 11863366

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