title: Biosynthesis of human alpha-N-acetylgalactosaminidase: defective phosphorylation and maturation in infantile alpha-NAGA deficiency.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
authors.forename: P
authors.initials: P
authors.lastname: Hu
authors.forename: A J
authors.initials: AJ
authors.lastname: Reuser
authors.forename: H C
authors.initials: HC
authors.lastname: Janse
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: D
authors.initials: D
authors.lastname: Schindler
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
authors.forename: A
authors.initials: A
authors.lastname: Tsuji
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
mesh_terms: 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
chemical_list: D006596:Hexosaminidases