Pleiotropic mutations of lysosomal function in human patients and in Chinese hamster ovary cells.
The biosynthesis of lysosomal enzymes entails a complex series of events. The nascent proteins enter the endoplasmic reticulum for glycosylation. Phosphorylation of the enzymes subsequently occurs in the Golgi area. Equipped with a phosphomannose recognition marker, the enzymes are bound to specific receptors and translocated to lysosomes. Mutations are known in the following steps: early glycosylation (CHO cells), phosphorylation (patients with I-cell disease and pseudo-Hurler polydystrophy), and receptor binding (CHO cells).
D000818:Animals; D002460:Cell Line; D006224:Cricetinae; D003412:Cricetulus; D004798:Enzymes / Q000235:genetics; D005260:Female; D006023:Glycoproteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008247:Lysosomes / Q000502:physiology*; D009081:Mucolipidoses / Q000235:genetics*; D009154:Mutation; D010053:Ovary
D004798:Enzymes; D006023:Glycoproteins