| Autor: |
Hu P; Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands., Reuser AJ, Janse HC, Kleijer WJ, Schindler D, Sakuraba H, Tsuji A, Suzuki Y, van Diggelen OP |
| Jazyk: |
angličtina |
| Zdroj: |
Biochemical and biophysical research communications [Biochem Biophys Res Commun] 1991 Mar 29; Vol. 175 (3), pp. 1097-103. |
| DOI: |
10.1016/0006-291x(91)91678-6 |
| Abstrakt: |
The biosynthesis of human alpha-N-acetylgalactosaminidase (alpha-NAGA) was studied in normal fibroblasts and in cells from patients with infantile alpha-NAGA deficiency. Normal alpha-NAGA is synthesized as a 52 kDa precursor which matures to a 49 kDa species through phosphorylation and carbohydrate triming. Fibroblasts from the patients synthesize normal amounts of a 52 kDa precursor, however phosphorylation does not occur and this precursor is subsequently degraded intracellularly. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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