title: Characterization of lysosomes and lysosomal enzymes from Chediak-Higashi-syndrome cultured fibroblasts.
abstract: Chediak-Higashi-syndrome cultured skin fibroblasts were used to study the possible involvement of lysosomal enzymes and lysosomal dysfunction in this disorder. Our evidence indicated that Chediak-Higashi fibroblasts displayed a significant decrease in the specific activity of the acidic alpha-D-mannosidase (pH 4.2) compared with normal controls. Additional studies revealed a small, but significant, decrease in the rate of degradation of 125I-labelled beta-D-glucosidase that had been endocytosed into Chediak-Higashi cells.
mesh_terms: D002478:Cells, Cultured; D002609:Chediak-Higashi Syndrome / Q000201:enzymology*; D002675:Child, Preschool; D004705:Endocytosis; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D006867:Hydrolases / Q000378:metabolism; D007223:Infant; D007700:Kinetics; D008247:Lysosomes / Q000201:enzymology*; D008297:Male; D008361:Mannosidases / Q000378:metabolism; D043323:alpha-Mannosidase; D001617:beta-Glucosidase / Q000378:metabolism
chemical_list: D006867:Hydrolases; D008361:Mannosidases; D001617:beta-Glucosidase; D043323:alpha-Mannosidase