Citations for
Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).
Young RD, Liskova P, Pinali C, Palka BP, Palos M, Jirsova K, Hrdlickova E, Tesarova M, Elleder M, Zeman J, Meek KM, Knupp C, Quantock AJ.
Invest Ophthalmol Vis Sci. 52(9):6720-8. 2011
Induced pluripotent stem cells derived from mouse models of lysosomal storage disorders.
Meng XL, Shen JS, Kawagoe S, Ohashi T, Brady RO, Eto Y.
Proc Natl Acad Sci U S A. 107(17):7886-91. 2010
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Tomatsu S, Montaņo AM, Dung VC, Grubb JH, Sly WS.
Hum Mutat 30(4):511-9. Review. 2009
Mechanism of shortened bones in mucopolysaccharidosis VII.
Metcalf JA, Zhang Y, Hilton MJ, Long F, Ponder KP.
Mol Genet Metab 97(3):202-11. Epub 2009 Mar 25. 2009
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.
Genet Test 11(1):72-4. 2007
Recurrent fetal hydrops due to mucopolysaccharidoses type VII.
Venkat-Raman N, Sebire NJ, Murphy KW.
Fetal Diagn Ther 21(3):250-4. Review. 2006
Identification and functional analysis of genetic variants of the human beta-glucuronidase in a German population sample.
Gratz M, Kunert-Keil C, John U, Cascorbi I, Kroemer HK.
Pharmacogenet Genomics 15(12):875-81. 2005
General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus.
Tomatsu S, Orii KO, Bi Y, Gutierrez MA, Nishioka T, Yamaguchi S, Kondo N, Orii T, Noguchi A, Sly WS.
Hum Mutat 23(6):590-8. 2004
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.
Genomics 79(3):363-75. 2002
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. 99(23):14982-7. 2002
A novel model of murine mucopolysaccharidosis type VII due to an intracisternal a particle element transposition into the beta-glucuronidase gene: clinical and pathologic findings.
Vogler C, Levy B, Galvin N, Sands MS, Birkenmeier EH, Sly WS, Barker J.
Pediatr Res. 49(3):342-8. 2001
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.
Arch Biochem Biophys. 372(1):53-61. 1999
Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.
Vervoort R, Gitzelmann R, Bosshard N, Maire I, Liebaers I, Lissens W.
Hum Genet 102(1):69-78. 1998
A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene.
Vervoort R, Gitzelmann R, Lissens W, Liebaers I.
Hum Genet 103 : 686-693. 1998
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. 48(2):248-53. 1998
Molecular analysis of the beta-glucuronidase gene : novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region.
Vervoort R, Buist NR, Kleijer WJ, Wevers R, Fryns JP, Liebaers I, Lissens W.
Hum Genet 99(4):462-8. 1997
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 58(3):457-71. 1996
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.
Cytogenet Cell Genet 72(1):53-5. 1996
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.
Hum Genet 98(3):281-4. 1996
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.
Am J Hum Genet 57(4):798-804. 1995
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 4(4):651-5. 1995
Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency.
Gitzelmann R, Bosshard NU, Superti-Furga A, Spycher MA, Briner J, Wiesmann U, Lutz H, Litschi B.
Vet Pathol. 31(4):435-43. 1994
Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.
Vervoort R, Lissens W, Liebaers I.
Hum Mutat 2(6):443-5. 1993
Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.
Wu BM, Sly WS.
Hum Mutat 2(6):446-57. 1993
Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.
Shipley JM, Klinkenberg M, Wu BM, Bachinsky DR, Grubb JH, Sly WS.
Am J Hum Genet 52(3):517-26. 1993
The role of glycosylation and phosphorylation in the expression of active human beta-glucuronidase.
Shipley JM, Grubb JH, Sly WS.
J Biol Chem. 268(16):12193-8. 1993
Reversal of pathology in murine mucopolysaccharidosis type VII by somatic cell gene transfer.
Wolfe JH, Sands MS, Barker JE, Gwynn B, Rowe LB, Vogler CA, Birkenmeier EH.
Nature. 360(6406):749-53. 1992
Deletion mapping of plasminogen activator inhibitor, type I (PLANH1) and beta-glucuronidase (GUSB) in 7q21-q22.
Schwartz CE, Stanislovitis P, Phelan MC, Klinger K, Taylor HA, Stevenson RE.
Cytogenet Cell Genet 56(3-4):152-3. 1991
Mucopolysaccharidosis type VII : characterization of mutations and molecular heterogeneity.
Tomatsu S, Fukuda S, Sukegawa K, Ikedo Y, Yamada S, Yamada Y, Sasaki T, Okamoto H, Kuwahara T, Yamaguchi S, et al.
Am J Hum Genet 48(1):89-96. 1991
Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog.
Haskins ME, Aguirre GD, Jezyk PF, Schuchman EH, Desnick RJ, Patterson DF.
Am J Pathol. 138(6):1553-5. 1991
A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.
Fagan K, Gill A, Henry R, Wilkinson I, Carey B.
J Med Genet 26(10):619-25. 1989
Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency.
Birkenmeier EH, Davisson MT, Beamer WG, Ganschow RE, Vogler CA, Gwynn B, Lyford KA, Maltais LM, Wawrzyniak CJ.
83(4):1258-66. J Clin Invest. 1989
Deletion mapping of the beta-glucuronidase gene.
Allanson JE, Gemmill RM, Hecht BK, Johnsen S, Wenger DA.
Am J Med Genet 29(3):517-22. 1988
Refined mapping of phosphoserine phosphatase (PSP) and beta-glucuronidase (GUSB) on chromosome 7 by gene-dosage.
Danesino C, et al.
(HGM9) Cytogenet Cell Genet 46 : 603. 1987
Cloning, sequencing, and expression of cDNA for human beta-glucuronidase.
Oshima A, Kyle JW, Miller RD, Hoffmann JW, Powell PP, Grubb JH, Sly WS, Tropak M, Guise KS, Gravel RA.
Proc Natl Acad Sci U S A. 84(3):685-9. 1987
Interstitial 7q deletion [46,XY, del (7) (pter->cen::q112->qter)] in a retarded quadriplegic boy with normal beta glucuronidase.
Frydman M, Steinberger J, Shabtai F, Steinherz R.
Am J Med Genet 25(2):245-9. 1986
Postmortem observations on beta-glucuronidase deficiency presenting as hydrops fetalis.
Irani D, Kim HS, El-Hibri H, Dutton RV, Beaudet A, Armstrong D.
Ann Neurol 14(4):486-90. 1983
Assignment of the gene for beta-glucuronidase (beta-GUS) to chromosome 7 in man.
Lalley PA, et al.
Cytogenet Cell Genet 16 : 184-187. 1976
Somatic cell hybrid assignment of a structural gene for human beta-glucuronidase to chromosome 7 by use of an X/7 translocation.
Chan TS, et al.
Cytogenet Cell Genet 17 : 291-295. 1976
Assignment of the structural gene for human beta-glucuronidase to chromosome 7 and tetrameric association of subunits in the enzyme molecule.
Chern CJ, Croce CM.
Am J Hum Genet 28(4):350-6. 1976
The human gene for beta-glucuronidase is on chromosome 7.
Francke U.
Am J Hum Genet 28(4):357-62. 1976
Assignment of human genes: beta-glucuronidase to chromosome 7, adenylate kinase-1 to 9, a second enzyme with enolase activity to 12, and mitochondrial IDH to 15.
Grzeschik KH.
Cytogenet Cell Genet 16 : 142-148. 1976
Beta glucuronidase deficiency : report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.
Sly WS, Quinton BA, McAlister WH, Rimoin DL.
J Pediatr 82(2):249-57. 1973