Mutations affecting transport and stability of lysosomal enzymes.
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.
von Figura
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Institut für Biochemie II, Göttigen, BRD.
Hasilik
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Pohlmann
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Braulke
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T
Lemansky
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P
Stein
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M
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
D002352:Carrier Proteins; D017527:Receptor, IGF Type 2