Adult forms of glycogenosis type II

FEBS Letters

Kroos, M.¹  Reuser, A.J.J.¹ 

[1] Department of Cell Biology and Genetics, Erasmus University Rotterdam, 3000 DR Rotterdam, The Netherlands

关键词: Glycogenosis type II;    Pompe disease;    α-Glucosidase;    Synthesis;    Processing;    (Human skin fibroblast);   

DOI  :  10.1016/0014-5793(82)80953-8

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

The activity of acid α-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 α-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 α-glucosidase by adult mutant fibroblasts is markedly reduced. The results are indicative of a defect during the production of acid α-glucosidase.

【 授权许可】

Unknown