Biosynthesis of human alpha-N-acetylgalactosaminidase: defective phosphorylation and maturation in infantile alpha-NAGA deficiency

• Published in: Biochemical and biophysical research communications Vol. 175; no. 3; p. 1097
• Main Authors: Hu, P, Reuser, A J, Janse, H C, Kleijer, W J, Schindler, D, Sakuraba, H, Tsuji, A, Suzuki, Y, van Diggelen, O P
• Format: Journal Article
• Language: English
• Published: United States 29-03-1991
• Subjects: Carbohydrate Metabolism, Inborn Errors - enzymology; Carbohydrate Metabolism, Inborn Errors - genetics; Cells, Cultured; Fibroblasts - enzymology; Hexosaminidases - biosynthesis; Hexosaminidases - deficiency; Humans; Infant; Kinetics; Phosphorylation; Reference Values
• ISSN: 0006-291X
• DOI: 10.1016/0006-291X(91)91678-6

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.