208
Views
24
CrossRef citations to date
0
Altmetric
Drug Evaluation

α-L-Iduronidase and enzyme replacement therapy for mucopolysaccharidosis I

Pages 967-976 | Published online: 23 Feb 2005

Bibliography

  • MCKUSICK VA, NEUFELD EF: The mucopolysaccharide storage diseases. In: The Metabolic Bash of Inherited Disease. JB Stansbury, JB Wyngaarden, DS Fredrickson, JL Goldstein, MS Brown (Eds.) 5th Edition McGraw-Hill, New York, USA (1983):751–777. A historical review of themucopolysaccharide storage disorders.
  • BERKHAN 0: Zwei falle von skaphokephalie. Arch. Anthrop. (1907) 34:8.
  • •Original description of two mucopolysaccharidosis patients.
  • HURLER G: Ueber einen Typ multiper Abartungen, vor-weigend am skelettsystem. Z Kinderheilk. (1919) 24:220–234.
  • •First clear clinical description of Hurler syndrome.
  • WASHINGTON JA: Lipochondrodystrophy. In: Brennemann's practice of pediatrics Volume 4, Hagerstown, MD, (1937) WF Prior.
  • •Description of lipochondrodystrophy as a possible term for mucopolysaccharidosis I.
  • BRANTE G: Gargoylism: a mucopolysaccharidosis. Scand. I Gin Lab. Invest. (1952) 4:43–46.
  • •First use of the term mucopolysaccharidosis.
  • DORFMAN A, LORINCZ AE: Occurrence of urinary acid mucopolysaccharides in the Hurler syndrome. Proc. Nati Acad. Sci. USA. (1957) 43:443–446.
  • •Demonstration of mucopolysaccharides in urine.
  • DANES BS, BEARN AG: Hurler's syndrome: demonstration of an inherited disorder of connective tissue in cell culture. Science (1965) 149:987–989.
  • •Demonstration of mucopolysaccharides in cultured fibroblasts.
  • FRATANTONI JC, HALL CW, NEUFELD EF: Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science (1968) 162:570–572.
  • ••Identification of corrective factor for Hurlersyndrome.
  • SCHEIE HG, HAMBRICK GW, BARNESS LA: A newly recognised forme fruste of Hurler's disease (gargoylism). Am. Ophthalmol. (1962) 53:753–769.
  • •First clinical description of Scheie syndrome.
  • WIESMANN U, NEUFELD EF: Scheie and Hurler syndromes: apparent identity of the biochemical defect. Science (1970) 169:72–74.
  • •Hurler and Scheie syndromes are caused by the same biochemical defect.
  • MATALON R, DORFMAN A: Hurler's syndrome, an a-L-iduronidase deficiency. Biochem. Biophys. Res. Commun. (1972) 47:959–964.
  • ••The specific enzyme defect inmucopolysaccharidosis I.
  • NEUFELD EF, LIM TW, SHAPIRO LJ: Inherited disorders of lysosomal metabolism. Annu. Rev Biochem. (1975) 44:357–376.
  • •Review describing initial history of mucopolysaccharidosis I.
  • BACH G, FRIEDMAN R,WEISSMANN B, NEUFELD EF: The defect in the Hurler and Scheie syndromes: deficiency of a-L-iduronidase. Proc. NatL Acad. Sd. USA. (1972) 69:2048–2051.
  • ••Reference for the a-L-iduronidasedeficiency and enzyme uptake/correction in deficient cells.
  • BARTON RW, NEUFELD EF: The Hurlercorrective factor: purification and some properties.j Biol. Chem. (1971) 246:7773–7779.
  • •Partial purification of a-L-iduronidase from urine.
  • ROME LH, GARVIN AJ, NEUFELD EF: Human kidney a-L-iduronidase: purification and characterisation. Arch. Biochem. Biophys. (1978) 189:344–353.
  • •Partial purification of a-L-iduronidase from kidney.
  • SCHUCHMAN EH, GUZMAN NA, DESNICK RJ: Human a-L-iduronidase. I. Purification and properties of the high uptake (higher molecular weight) and low uptake (processed) forms.' Biol. Chem. (1984) 259:3132–3140.
  • •Partial purification of a-L-iduronidase from lung.
  • CLEMENTS PR, BROOKS DA, SACCONE GTP, HOPWOOD JJ: Human a-L-iduronidase. 1. Purification, monoclonal antibody production, native and subunit molecular weight. Ear: Biochem. (1985) 152:21–28.
  • ••Purification and characterisation of a-L-iduronidase and monoclonal antibody production.
  • CLEMENTS PR, BROOKS DA, MCCOURT PAG, HOPWOOD JJ: Immunopurification and characterisation of a-L-iduronidase with the use of monoclonal antibodies. Biochem. (1989) 259:199–208.
  • ••Purification of a-L-iduronidase tohomogeneity.
  • SCOTT HS, ANSON DS,ORSBORN AM et al.: Human a-L-iduronidase: cDNA isolation and expression. Proc. Nati Acad. ScL USA (1991) 88:9695–9699.
  • ••Sequencing of the a-L-iduronidase geneand initial expression in CHO cells.
  • TAYLOR JA, GIBSON GJ, BROOKS DA, HOPWOOD JJ: a-L-Iduronidase in normal and mucopolysaccharidosis-type-I human skin fibroblasts. Biochem. (1991) 274:263–268.
  • •a-L-Iduronidase processing and maturation study on mucopolysaccharidosis I patient fibroblasts.
  • WEISSMANN B, SANTIAGO R: a-L-Iduronidase in lysosomal extracts. Biochem. Biophys. Res. Commun. (1972) 46:1430–1433.
  • ••Development of a-L-iduronidase substrateand assay.
  • DI NATALE P, LEDER IG,NEUFELD EF: A radioactive substrate and assay for a-L-iduronidase. Clin. Chim. Acta. (1977) 77:211–218.
  • •Development of radiolabelled substrate and assay for a-L-iduronidase.
  • STIRLING LJ, ROBINSON D,FENSOM AH, BENSOM PH, BAKER JE: Fluorimetric assay for prenatal detection of Hurler and Scheie homozygotes and heterozygotes. Lancet (1978) i:147–148.
  • •Fluorogenic assay for a-L-iduronidase.
  • HOPWOOD JJ, MULLER V,HARRISON JR et al.: A fluorometric assay using 4-methylumbelliferyl a-L-iduronide for the estimation of a-L-iduronidase and the detection of Hurler and Scheie syndromes. Gin. Chim. Acta. (1979) 92:257–265.
  • •A fluorometric assay for a-L-iduronidase and the discrimination of Hurler and Scheie syndrome patients.
  • HOPWOOD JJ, MULLER V,POLLARD AC: Post- and pre-natal assessment of a-L-iduronidase deficiency with a radiolabelled natural substrate. Clin. Sci. (1979) 56:591-599.Radiolabelled substrate assay for a-L-iduronidase.H.HOPWOOD JJ, MULLER V: Biochemicaldiscrimination of Hurler and Scheie syndromes. Clin. Sci. (1979) 57:265–272.
  • •Assay to discriminate between Hurler and Scheie syndrome patients.
  • HOPWOOD JJ, MULLER V: Diagnostic enzymology of a-L-iduronidase with special reference to a sulphated disaccharide derived from heparin. Gin. Sci. (1982) 62:193–201.
  • ••Assay of a-L-iduronidase using naturalsubstrates.
  • MATALON R, DEANCHING M, OMURA K: Hurler, Scheie and Hurler/ Scheie "compound": Residual activity of a-L-iduronidase toward natural substrates suggesting allelic mutations. Inherit. Metab. Dis. (1983) 6 (Suppl.):133–134.
  • •Assay of mucopolysaccharidosis I patients using natural substrates.
  • ASHTON LJ, BROOKS DA, MCCOURT PAG, MULLER VJ, CLEMENTS PR, HOPWOOD JJ: Immunoquantification and enzyme kinetics of a-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients. Am.Hum. Genet. (1992) 50:787–794.
  • ••Development of an immunoquantificationassay to assess residual mutant protein and measurement of catalytic capacity in mucopolysaccharidosis I patients.
  • BROOKS DA: The immunochemical analysis of enzyme from mucopolysaccharidoses patients. Inherit. Metab. Dis. (1993) 16:3–15.
  • •Review of immunochemical analysis of mucopolysaccharidosis patients.
  • BROOKS DA: Protein processing: A role in the pathophysiology of genetic disease. FEBS Letters (1997) 409:115–120.
  • •Role of endoplasmic reticulurn in pathophysiology of genetic disease, including mucopolysaccharidosis I.
  • BROOKS DA, MCCOURT PAG, GIBSON GJ, ASHTON LJ, SHUTTER M, HOPWOOD JJ: Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients. Am. Hum. Genet. (1991) 48:710–719.
  • •Development of the term catalytic capacity as a measure of clinical severity in patients.
  • SCOTT HS, ASHTON LJ, EYRE HJ et al.: Chromosomal localisation of the human a-L-iduronidase gene (IDUA) to4p16.3. Am. J. Hum. Genet. (1990) 47:802–807.
  • •Chromosomal location of IDUA gene.
  • BUNGE S, KLEIJER WJ, STEGLICH Cet al.: Mucopolysaccharidosis type I: identification of 8 novel mutations and frequency of the common a-L-iduronidase mutations (W402Xand Q70X) among European populations. Hum. MM. Genet. (1994) 3:861–866.
  • •Identification of common mutations in the IDUA gene.
  • BUNGE S, KLEIJER WJ, STEGLICH C et al.: Mucopolysaccharidosis type I: identification of 13 novel mutations of the a-L-iduronidase gene. Hum Mutat (1995) 6:91–94.
  • •Identification of common mutations in the IDUA gene.
  • GORT L, CHABAS A, COLL MJ: Analysis of five mutations in 20mucopolysaccharidosis type 1 patients: high prevalence of the W402X mutation. Hum. Mutat. (1998) 11:332–333.
  • •Common mutations for mucopolysaccharidosis type I patients.
  • BEESLEY CE, MEANEY CA, GREENLAND G et al: Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and M vitro expression of missense mutations. Hum. Genet. (2001) 109:503–511.
  • ••Stop codon and other mutation analysis inmucopolysaccharidosis I patients.
  • VOSKOBOEVA EY, KRASNOPOLSKAYA XD, MIRENBURG TV, WEBER B, HOPWOOD JJ: Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union. MM. Genet. Metab. (1998) 65:174–180.
  • •IDUA mutation analysis in Russian mucopolysaccharidosis I patients.
  • BROOKS DA, HARPER GS, GIBSON GJ et al.: Hurler syndrome: a patient with abnormally high levels of a-L-iduronidase protein. Biochem. Med. Metab. Biol (1992) 47:211–220.
  • •Mucopolysaccharidosis I patient with high levels of catalytically inactive mutant protein.
  • BROOKS DA, FABREGA S, HEIN LK et al. Glycosidase active site mutations in human a-L-iduronidase. Glycobiology (2001) 11:741–750.
  • ••Active site residues for a-L-iduronidase.
  • CLARKE LA, NELSON PV, WARRINGTON CL, MORRIS CP, HOPWOOD JJ, SCOTT HS: Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations. Hum. Mutat (1994) 3:275–282.
  • •Mutation analysis in mucopolysaccharidosis I patients.
  • ALIF N, HESS K, STRACZEK Jet al.: Mucopolysaccharidosis type I in Morocco: clinical features and genetic profile. Arch. Pediatt (2000) 7:597–604.
  • •Description of P533R mutation in Moroccan mucopolysaccharidosis I patients.
  • GATTI R, DI NATALE P, VILLANI GR et al. Mutations among Italian mucopolysaccharidosis type I patients. J. Inherit. Metab. Dis. (1997) 20:803–806.
  • •Description of P533R mutation in Sicilian Italian mucopolysaccharidosis I patients.
  • SCOTT HS, LITJENS T, NELSON PV et al.: Identification of mutations in the a-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. Am. J. Hum. Genet. (1993) 53:973–986.
  • •Mutation analysis in mucopolysaccharidosis I patients.
  • YAMAGISHI A, TOMATSU S,FUKUDA S et al: Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. Hum. Mutat (1996) 7:23–29.
  • •Mutation analysis in Japanese mucopolysaccharidosis I patients.
  • SCOTT HS, BUNGE S, GAL A, CLARKE LA, MORRIS CP, HOPWOOD JJ: Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum. Mutat (1995) 6:288–302.
  • ••Review of the molecular genetic analysis ofmucopolysaccharidosis I patients.
  • DURAND P, LEHN P, CALLEBUT I, FABREGA S, HENRISSAT B, MORNON JP: Active-site motifs of lysosomal acid hydrolases: invariant features of clan GH-A glycosyl hydrolases deduced from hydrophobic cluster analysis. Glycobiol. (1997) 7:277–284.
  • ••Prediction of a-L-iduronidase active siteresidues.
  • KOSHLAND DE: Stereochemistry and themechanism of enzymatic reactions. Biol. Rev., Cambridge Phil. Soc. (1953) 28:416–436.
  • •Catalytic mechanism for glycosidases.
  • SINNOTT ML: Catalytic mechanisms of enzymic glycosyl transfer. Chem. Rev (1990) 90:1171–1202.
  • •Glycosidase catalytic mechanism.
  • MCCARTER JD, WITHERS SG: echanisms of enzymatic glycoside hydrolysis. CLIFF. Opin. Strad. Biol. (1994) 4:885–892.
  • •Catalytic mechanism for glycosidases.
  • DAVIES G, HENRISSAT B: Structures and mechanisms of glycosyl hydrolases. Structure. (1995) 3:853–859.
  • •Catalytic mechanism for glycosidases.
  • DURAND P, FABREGA S,HENRISSAT B, MORNON JP, LEHN P: Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis. Hum. MM. Genet. (2000) 9:967–977.
  • ••Prediction of a-L-iduronidase active siteresidues.
  • MEIKLE PJ, HOPWOOD JJ,CLAGUE AE, CAREY WF: Prevalence of lysosomal storage disorders. JAMA (1999) 281:249–254.
  • •Prevalence of mucopolysaccharidosis I.
  • NEUFELD EF, MUENZER J: The mucopolysaccharidoses. In: The Metabolic Bash of Human Disease. CR Scriver, AC Beaudet, WS *, D Valle (Eds) 7th edition, McGraw-Hill, New York, USA (1995):2465–2494.
  • ••Review article including the clinicalpresentation of mucopolysaccharidosis I patients.
  • HOPWOOD JJ, MORRIS CP: The mucopolysaccharidoses: Diagnosis, molecular genetics and treatment. Mo/. Biol. Med. (1990) 7:381–404.
  • ••Review article for mucopolysaccharidoses.
  • MEIKLE PJ, BROOKS DA,RAVENSCROFT E et al.: Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker. Clin. Chem. (1997) 43:1325–1335.
  • ••Screening method for the early detectionof lysosomal storage disorders.
  • HOPWOOD JJ, HARRISON JR: High-resolution electrophoresis of urinary glycosaminoglycans. Anal. Biochem. (1982) 199:120–127.
  • •Method to characterise mucopolysacchariduria.
  • UNGER EG, DURRANT J, ANSON DS, HOPWOOD JJ: Recombinant a-L-

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.