title: Glycoprotein metabolism in neuronal ceroid lipofuscinosis fibroblasts.
abstract: Human skin fibroblast lines of the infantile form of neuronal ceroid lipofuscinosis and control lines were cultured in the presence of [3H]glucosamine plus [3H]mannose and [35S]methionine. The labeled glycoconjugates were compared by quantitative polyacrylamide gel electrophoresis in sodium dodecyl sulfate. The infantile form of the disease showed a 75% decrease of four glycoprotein components of M(r) 120-140 kDa. These components appeared to be N-linked glycoproteins as peptide-N4-(N-acetyl-beta-glucosaminyl) asparagine amidase (PNGase F) released 86-96% of the labeled carbohydrate from the labeled protein. These results suggest that the infantile form of this disease may be characterized by abnormalities in glycoconjugate metabolism leading to reduction of specific glycoproteins.
authors.affiliation: Department of Human Genetics, New York State Office of Mental Retardation and Developmental Disabilities, Staten Island 10314.
authors.forename: J
authors.initials: J
authors.lastname: Heaney-Kieras
authors.forename: F J
authors.initials: FJ
authors.lastname: Kieras
authors.forename: K E
authors.initials: KE
authors.lastname: Wisniewski
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002460:Cell Line; D002648:Child; D002675:Child, Preschool; D004591:Electrophoresis, Polyacrylamide Gel; D005347:Fibroblasts / Q000378:metabolism; D005944:Glucosamine / Q000378:metabolism; D006023:Glycoproteins / Q000096:biosynthesis / Q000302:isolation & purification / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008358:Mannose / Q000378:metabolism; D008715:Methionine / Q000378:metabolism; D009472:Neuronal Ceroid-Lipofuscinoses / Q000378:metabolism*; D012867:Skin / Q000378:metabolism*; D013462:Sulfur Radioisotopes; D014316:Tritium
chemical_list: D006023:Glycoproteins; D013462:Sulfur Radioisotopes; D014316:Tritium; D008715:Methionine; D005944:Glucosamine; D008358:Mannose