Literature DB >> 6754447

Adult forms of glycogenosis type II. A defect in an early stage of acid alpha-glucosidase realization.

A J Reuser, M Kroos.   

Abstract

The activity of acid alpha-glucosidase in cultured fibroblasts from adult patients with the lysosomal storage disease glycogenosis type II is only 10% of normal. A normal activity per molecule is found for the mature as well as for the precursor form of acid alpha-glucosidase in adult mutant fibroblasts. Excessive lysosomal breakdown of mature enzyme purified from mutant fibroblasts and taken up by acceptor cells does not occur. However, the NH4Cl-stimulated secretion of a precursor form of acid alpha-glucosidase by adult mutant fibroblasts is markedly reduced. The results are indicative of a defect during the production of acid alpha-glucosidase.

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Year:  1982        PMID： 6754447     DOI： 10.1016/0014-5793(82)80953-8

Source DB:  PubMed          Journal:  FEBS Lett        ISSN： 0014-5793            Impact factor:   4.124


  6 in total

1.  Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.

Authors:  A J Reuser; M Kroos; R Willemsen; D Swallow; J M Tager; H Galjaard
Journal:  J Clin Invest       Date:  1987-06       Impact factor: 14.808

2.  Regional mapping of the human gene for lysosomal alpha-glucosidase by in situ hybridization.

Authors:  D J Halley; A Konings; P Hupkes; H Galjaard
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

3.  The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.

Authors:  M M Hermans; E de Graaff; M A Kroos; H A Wisselaar; R Willemsen; B A Oostra; A J Reuser
Journal:  Biochem J       Date:  1993-02-01       Impact factor: 3.857

4.  Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.

Authors:  M M Hermans; H A Wisselaar; M A Kroos; B A Oostra; A J Reuser
Journal:  Biochem J       Date:  1993-02-01       Impact factor: 3.857

5.  Immunocytochemistry of lysosomal hydrolases and their precursor forms in normal and mutant human cells.

Authors:  J M Van Dongen; R A Barneveld; H J Geuze; H Galjaard
Journal:  Histochem J       Date:  1984-09

6.  Glycogenosis type II: protein and DNA analysis in five South African families from various ethnic origins.

Authors:  A T Van der Ploeg; L H Hoefsloot; M Hoogeveen-Westerveld; E M Petersen; A J Reuser
Journal:  Am J Hum Genet       Date:  1989-06       Impact factor: 11.025
  6 in total

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