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Items: 1 to 20 of 139

1.

A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII.

Hytönen MK, Arumilli M, Lappalainen AK, Kallio H, Snellman M, Sainio K, Lohi H.

PLoS One. 2012;7(7):e40281. doi: 10.1371/journal.pone.0040281. Epub 2012 Jul 5.

2.

Cloning of the canine beta-glucuronidase cDNA, mutation identification in canine MPS VII, and retroviral vector-mediated correction of MPS VII cells.

Ray J, Bouvet A, DeSanto C, Fyfe JC, Xu D, Wolfe JH, Aguirre GD, Patterson DF, Haskins ME, Henthorn PS.

Genomics. 1998 Mar 1;48(2):248-53.

PMID:
9521879
3.

Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene.

Wang P, Sorenson J, Strickland S, Mingus C, Haskins ME, Giger U.

J Vet Intern Med. 2015 Jul-Aug;29(4):1022-8. doi: 10.1111/jvim.13569. Epub 2015 Jun 25.

4.

Biochemical basis of the beta-glucuronidase gene defect causing canine mucopolysaccharidosis VII.

Ray J, Scarpino V, Laing C, Haskins ME.

J Hered. 1999 Jan-Feb;90(1):119-23.

PMID:
9987917
5.

Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).

Tomatsu S, Montaño AM, Dung VC, Grubb JH, Sly WS.

Hum Mutat. 2009 Apr;30(4):511-9. doi: 10.1002/humu.20828. Review.

6.

Clinical response to persistent, low-level beta-glucuronidase expression in the murine model of mucopolysaccharidosis type VII.

Donsante A, Levy B, Vogler C, Sands MS.

J Inherit Metab Dis. 2007 Apr;30(2):227-38. Epub 2007 Feb 16.

PMID:
17308887
7.

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.

Am J Hum Genet. 1996 Mar;58(3):457-71.

8.

Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII mice.

Sly WS, Vogler C, Grubb JH, Zhou M, Jiang J, Zhou XY, Tomatsu S, Bi Y, Snella EM.

Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2205-10. Epub 2001 Feb 13.

10.

Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII.

Fyfe JC, Kurzhals RL, Lassaline ME, Henthorn PS, Alur PR, Wang P, Wolfe JH, Giger U, Haskins ME, Patterson DF, Sun H, Jain S, Yuhki N.

Genomics. 1999 Jun 1;58(2):121-8.

PMID:
10366443
11.
12.

Adenoviral vector-mediated beta-glucuronidase cDNA transfer to treat MPS VII RPE in vitro.

Verdugo ME, Scarpino V, Moullier P, Haskins ME, Aguirre GD, Ray J.

Curr Eye Res. 2001 Nov;23(5):357-67.

PMID:
11910525
13.

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.

Hum Mol Genet. 1995 Apr;4(4):651-5.

PMID:
7633414
14.

High level expression and export of beta-glucuronidase from murine mucopolysaccharidosis VII cells corrected by a double-copy retrovirus vector.

Wolfe JH, Kyle JW, Sands MS, Sly WS, Markowitz DG, Parente MK.

Gene Ther. 1995 Jan;2(1):70-8.

PMID:
7712336
15.

The effect of neonatal gene therapy on skeletal manifestations in mucopolysaccharidosis VII dogs after a decade.

Xing EM, Knox VW, O'Donnell PA, Sikura T, Liu Y, Wu S, Casal ML, Haskins ME, Ponder KP.

Mol Genet Metab. 2013 Jun;109(2):183-93. doi: 10.1016/j.ymgme.2013.03.013. Epub 2013 Apr 6.

16.

Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs.

Mango RL, Xu L, Sands MS, Vogler C, Seiler G, Schwarz T, Haskins ME, Ponder KP.

Mol Genet Metab. 2004 May;82(1):4-19.

PMID:
15110316
17.
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19.

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.

Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14982-7. Epub 2002 Oct 28.

20.

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