Normal exocytosis and endocytosis of lysosomal beta-hexosaminidase in a case of alpha 1-antitrypsin deficiency.
Secretion of lysosomal beta-hexosaminidase by cultivated skin fibroblasts and receptor-mediated endocytosis of leucocyte beta-hexosaminidase from a patient by cultivated non-parenchymal rat liver cells and skin fibroblasts were similar to that of a control proband. The results suggest normal oligosaccharide side chains of high mannose type on lysosomal enzymes in alpha 1-antitrypsin (AAT) deficiency.
D000818:Animals; D002478:Cells, Cultured; D004705:Endocytosis; D005089:Exocytosis; D005347:Fibroblasts; D006596:Hexosaminidases / Q000378:metabolism*; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008099:Liver; D008247:Lysosomes / Q000201:enzymology; D008360:Mannosephosphates / Q000378:metabolism; D051381:Rats; D012867:Skin; D019896:alpha 1-Antitrypsin Deficiency; D001619:beta-N-Acetylhexosaminidases
D008360:Mannosephosphates; C027693:mannose-6-phosphate; D006596:Hexosaminidases; D001619:beta-N-Acetylhexosaminidases