title: Mutations affecting transport and stability of lysosomal enzymes.
abstract: The biosynthesis, post-translational processing and receptor-mediated transport of lysosomal enzymes will be briefly summarized. Mutations affecting the transport or the stability of a lysosomal enzyme but not its catalytic properties can result in a lysosomal storage disorder. Mutations causing a loss of catalytic activity may in addition affect transport or stability. Such mutations should not be classified as transport or stability mutations. Prototypes for transport and stability mutations are I-cell disease and late onset forms of metachromatic leukodystrophy.
authors.affiliation: Institut für Biochemie II, Göttigen, BRD.
authors.forename: K
authors.initials: K
authors.lastname: von Figura
authors.forename: A
authors.initials: A
authors.lastname: Hasilik
authors.forename: R
authors.initials: R
authors.lastname: Pohlmann
authors.forename: T
authors.initials: T
authors.lastname: Braulke
authors.forename: P
authors.initials: P
authors.lastname: Lemansky
authors.forename: M
authors.initials: M
authors.lastname: Stein
mesh_terms: D002352:Carrier Proteins / Q000502:physiology*; D004795:Enzyme Stability; D006801:Humans; D008247:Lysosomes / Q000201:enzymology*; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D009154:Mutation; D017527:Receptor, IGF Type 2
chemical_list: D002352:Carrier Proteins; D017527:Receptor, IGF Type 2