title: Molecular forms of beta-hexosaminidase and alpha-mannosidase in cell cultures from patients with mucolipidosis types II and III.
abstract: Molecular forms of beta-hexosaminidase and alpha-mannosidase were studied using isoelectric focusing in fibroblasts and culture medium from patients with mucolipidosis Types II and III. Compared to controls, no significant aberrations could be found in the isofocusing isoenzyme pattern. Mannose-6-phosphate, which inhibits the uptake of lysosomal enzymes into the cells, was added to the cell cultures from controls without any significant effect on the isofocusing isoenzyme pattern.
mesh_terms: D002478:Cells, Cultured; D055598:Chemical Phenomena; D002621:Chemistry; D003470:Culture Media; D005347:Fibroblasts / Q000201:enzymology; D006596:Hexosaminidases; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007525:Isoelectric Focusing; D007527:Isoenzymes; D008360:Mannosephosphates; D008361:Mannosidases; D009081:Mucolipidoses / Q000201:enzymology*
chemical_list: D003470:Culture Media; D007527:Isoenzymes; D008360:Mannosephosphates; D006596:Hexosaminidases; D008361:Mannosidases