title: I-cell disease. A hypothesis for the structure of the carbohydrate recognition site on beta-D-N-acetylhexosaminidase.
abstract: I-cell disease (mucolipidosis II) is presented as a model for endo- and exo-cytosis phenomena in man. A hypothesis is presented for the structure of the carbohydrate recognition site on fibroblast-derived beta-D-N-acetylhexosaminidase that may extend to the other affected hydrolases and that is responsible for specific uptake of the enzyme by fibroblasts. The proposed neuraminidase deficiency in I-cell disease is discussed in the light of its significance in influencing the final sugar sequence in the carbohydrate structure of the recognition site.
mesh_terms: D000118:Acetylglucosaminidase / Q000032:analysis*; D002241:Carbohydrates / Q000032:analysis; D004705:Endocytosis; D005089:Exocytosis; D005347:Fibroblasts / Q000201:enzymology; D006596:Hexosaminidases / Q000032:analysis*; D006801:Humans; D008954:Models, Biological; D009081:Mucolipidoses / Q000201:enzymology; D009439:Neuraminidase / Q000172:deficiency
chemical_list: D002241:Carbohydrates; D006596:Hexosaminidases; D009439:Neuraminidase; D000118:Acetylglucosaminidase