16
Views
11
CrossRef citations to date
0
Altmetric
Original Article

Synthesis and In Situ Localization of Lysosomal α-Glucosidase in Muscle of an Unusual Variant of Glycogen Storage Disease Type II

, , , , &
Pages 515-527 | Received 15 Jan 1993, Accepted 15 Jan 1993, Published online: 10 Jul 2009

References

  • Hers H G, van Hoof F, de Barsy T H. Glycogen storage diseases. The Metabolic Basis of Inherited Disease, 6th ed, C R Scriver, A L Beaudet, W S Sly, D Valle. McGraw-Hill, New York 1989; 425–452
  • Hers H G. α-Glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease). Biochem J. 1963; 86: 11–16
  • Engel A G, Gomez M R, Seybold M E, Lambert E H. The spectrum and diagnosis of acid maltase deficiency. Neurology. 1973; 23: 95–106
  • Van der Ploeg A T, Kroos M, Swallow D M, Reuser A JJ. An investigation of the possible influence of neutral α-glucosidase on the clinical heterogeneity of glycogenosis type II. Ann Hum Genet. 1989; 53: 185–192
  • Mehler M, DiMauro S. Residual acid maltase activity in late onset acid maltase deficiency. Neurology. 1977; 27: 178–184
  • Reuser A JJ, Koster J F, Hoogeveen A T, Galjaard H. Biochemical, immunological and cell genetic studies in glycogenosis type II. Am J Hum Genet. 1978; 30: 132–143
  • Schram A W, Brouwer-Kelder B, Donker-Koopman W E, Loonen C, Hamers M N, Tager J M. Use of immobilized antibodies in investigating acid α-glucosidase in urine in relation to Pompe's disease. Biochim Biophys Acta. 1979; 567: 370–383
  • Shanske S, Servidei S, Bowman M, DiMauro S. Biochemical studies in muscle biopsies from 45 patients with acid maltase deficiency (AMD). Muscle Nerve. 1986; 9: 196a
  • Reuser A JJ, Kroos M, Willemsen R, Swallow D, Tager J M, Galjaard H. Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid α-glucosidase in mutant fibroblasts. J Clin Invest. 1987; 79: 1689–1699
  • Van der Ploeg A T, Kroos M, van Dongen J M, Visser W J, Bolhuis P A, Loonen M CB, Reuser A JJ. Breakdown of lysosomal glycogen in cultured fibroblasts from glycogenosis type II patients after uptake of acid α-glucosidase. J Neurol Sci. 1987; 79: 327–336
  • Van der Ploeg A T, Bolhuis P A, Wolterman R A, Visser J W, Loonen M CB, Busch H FM, Reuser A JJ. Prospect for enzyme therapy in glycogenosis II variants. A study on cultured muscle cells. J Neurol. 1988; 235: 392–396
  • Beratis N G, LaBadie G U, Hirschhorn K. Genetic heterogeneity in acid α-glucosidase deficiency. Am J Hum Genet. 1983; 35: 21–33
  • Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R. Extensive genetic heterogeneity in patients with acid α-glucosidase deficiency as detected by abnormalities of DNA and messenger RNA. Am J Hum Genet. 1990; 47: 73–78
  • Towbin H, Staehelin T, Gordon J. Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets. Procedure and some applications. Proc Natl Acad Sci USA. 1979; 76: 4350–4354
  • Van Noorden C JF, Vogels I MC. Polyvinyl alcohol and other tissue protectants in enzyme histochemistry: A consumer's guide. Histochem J. 1989; 21: 373–379
  • Van Noorden C JF, Vogels I MC, Van Wering E R. Enzyme cytochemistry of unfixed leukocytes and bone marrow cells using polyvinyl alcohol for the diagnosis of leukemia. Histochemistry. 1989; 92: 313–318
  • Willemsen R, Van Dongen J M, Aerts J MFG, Schram A W, Tager J M, Goudsmit R, Reuser A JJ. An immunoelectron microscopic study of glucocerebrosidase in type I Gaucher's disease spleen. Ultrastruct Pathol. 1988; 12: 471–478
  • Griffiths G, Brands R, Burke B, Louvard D, Warren G. Viral membrane proteins acquire galactose in trans Golgi cisternae during intracellular transport. J Cell Biol. 1982; 95: 781–792
  • Hers H G. The concept of inborn lysosomal disease. Lysosomes and Storage Diseases., H G Hers, F Van Hoof. Academic Press, New York 1973; 147–171
  • La Beratis N., Badie G U, Hirschhorn K. Characterization of the molecular defect in infantile and adult acid α-glucosidase deficiency fibroblasts. J Clin Invest. 1978; 62: 1264–1274
  • Van der Ploeg A T, Hoefsloot L H, Hoogeveen-Westerveld M, Petersen E M, Reuser A JJ. Glycogenosis type II. Protein and DNA analysis in five South African families from various ethnic origins. Am J Hum Genet. 1989; 44: 787–793
  • Hoefsloot L H, Van der Ploeg A T, Kroos M A, Hoogeveen-Westerveld M, Oostra B A, Reuser A JJ. Adult and infantile glycogenosis type II in one family explained by allelic diversity. Am J Hum Genet. 1990; 46: 45–52
  • Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N, Hirschhorn R. Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele. DNA Cell Biol. 1991; 10: 681–687
  • Hermans M MP, De Graaff E, Kroos M A, Wisselaar H A, Willemsen R, Oostra B A, Reuser A JJ. Conservative substitution of Asp-645 Glu in lysosomal α-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen storage disease type II. Biochem J. 1993; 289: 687–693
  • Reuser A JJ, Kroos M, Ou de Elferink R PJ, Tager J M. Defects in synthesis, phosphorylation and maturation of acid α-glucosidase in glycogenosis type II. J Biol Chem. 1985; 14: 8336–8341
  • Ou de Elferink R PJ, Van Doorn-Van Wakeren J, Strijland A, Reuser A JJ, Tager J M. Biosynthesis and intracellular transport of α-glucosidase and cathepsin D in cultured human fibroblasts. Eur J Biochem. 1984; 153: 55–63
  • Carpenter S, Karpati G. Lysosomal storage in human skeletal muscle. Hum Pathol. 1986; 17: 683–703
  • Conzelmann E, Sandhoff K. Partial enzyme deficiencies. Residual activities and the development of neurological disorders. Dev Neurosci. 1983/1984; 6: 58–71
  • Swallow D M, Kroos M, Van der Ploeg A T, Griffiths B, Islam I, Marenah C B, Reuser A JJ. An investigation of the properties and possible clinical significance of the lysosomal α-glucosidase GAA2 allele. Ann Hum Genet. 1989; 53: 177–184

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.