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Galactosialidosis: molecular heterogeneity in biosynthesis and processing of protective protein for β-galactosidase

✍ Scribed by Eiji Nanba; Akihiko Tsuji; Kiyoshi Omura; Yoshiyuki Suzuki

Book ID
104697103
Publisher
Springer
Year
1988
Tongue
English
Weight
582 KB
Volume
80
Category
Article
ISSN
0340-6717

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✦ Synopsis

Biosynthesis and processing of the protective protein for beta-galactosidase in normal and galactosialidosis fibroblasts were investigated using specific antiserum preparations. A 45-kd precursor was processed to a mature 30-kd protein in normal fibroblasts. The mature protective protein was not detected in any of the twelve galactosialidosis fibroblast strains examined in this study. The precursor was not detected in two cases and in the others was of heterogeneous molecular weight, i.e., normal, abnormally low, or abnormally high. These molecular abnormalities were not correlated with clinical manifestations of the patients.

📜 SIMILAR VOLUMES

Molecular pathology of galactosialidosis
Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene
✍ Catherine Richard; Julie Tranchemontagne; Marc-André Elsliger; Grant A. Mitchell 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 269 KB 👁 2 views

Galactosialidosis is a recessively inherited lysosomal storage disease characterized by the combined deficiency of neuraminidase and beta-galactosidase secondary to the genetic deficiency of cathepsin A/protective protein. In lysosomes, cathepsin A forms a high-molecular-weight complex with beta-gal