雑誌文献を検索します。書籍を検索する際には「書籍検索」を選択してください。

検索

書誌情報 詳細検索 by 医中誌

Japanese

Molecular pathology of mutant enzymes in lysosomal storage diseases. Yoshiyuki SUZUKI 1 1The Tokyo Metropolitan Institute of Medical Science pp.741-749
Published Date 1992/10/10
DOI https://doi.org/10.11477/mf.1431900270
  • Abstract
  • Look Inside

Expression of lysosomal enzyme activities is regulated by various intracellular factors; structure of the gene coding for the enzyme, posttranslational modification (peptide/carbohydrate), intracellular transport/secretion, environmental factors in the lysosome (saposins, protective protein, etc), and proteolytic digestion. In this article, various aspects of molecular pathology in hereditary β-galacto-sidase deficiency were discussed. The enzyme β-galactosidase requires another multifunctional protein (protective protein) for its stabilization and expression in somatic cells. A primary defect in the enzyme activity is therefore caused by mutations of either β-galactosidase gene or protective protein gene. In addition, this enzyme activity is lost in some other metabolic diseases, such as I-cell disease with post-translational glycosylation/phosphorylation defect, and mucopolysaccharidoses with inhibition by storage material.


Copyright © 1992, Igaku-Shoin Ltd. All rights reserved.

基本情報

電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

関連文献

もっと見る

文献を共有