Adult forms of glycogenosis type II. A defect in an early stage of acid alpha-glucosidase realization.
FEBS Lett
; 146(2): 361-4, 1982 Sep 20.
Article
em En
| MEDLINE
| ID: mdl-6754447
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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Base de dados:
MEDLINE
Assunto principal:
Doença de Depósito de Glicogênio
/
Doença de Depósito de Glicogênio Tipo II
/
Alfa-Glucosidases
/
Glucosidases
Limite:
Humans
Idioma:
En
Ano de publicação:
1982
Tipo de documento:
Article