Biosynthesis of human alpha-N-acetylgalactosaminidase: defective phosphorylation and maturation in infantile alpha-NAGA deficiency.
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.
Hu
P
P
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
Reuser
A J
AJ
Janse
H C
HC
Kleijer
W J
WJ
Schindler
D
D
Sakuraba
H
H
Tsuji
A
A
Suzuki
Y
Y
van Diggelen
O P
OP
D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology; D006596:Hexosaminidases / Q000096:biosynthesis* / Q000172:deficiency; D006801:Humans; D007223:Infant; D007700:Kinetics; D010766:Phosphorylation; D012016:Reference Values
D006596:Hexosaminidases