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Mutations affecting transport and stability of lysosomal enzymes. 1987

K von Figura, and A Hasilik, and R Pohlmann, and T Braulke, and P Lemansky, and M Stein
Institut für Biochemie II, Göttigen, BRD.

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.

UI MeSH Term Description Entries
D008247 Lysosomes A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured or undergoes MEMBRANE FUSION. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed). Autolysosome,Autolysosomes,Lysosome
D008661 Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002352 Carrier Proteins Proteins that bind or transport specific substances in the blood, within the cell, or across cell membranes. Binding Proteins,Carrier Protein,Transport Protein,Transport Proteins,Binding Protein,Protein, Carrier,Proteins, Carrier
D004795 Enzyme Stability The extent to which an enzyme retains its structural conformation or its activity when subjected to storage, isolation, and purification or various other physical or chemical manipulations, including proteolytic enzymes and heat. Enzyme Stabilities,Stabilities, Enzyme,Stability, Enzyme
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017527 Receptor, IGF Type 2 A receptor that is specific for IGF-II and mannose-6-phosphate. The receptor is a 250-kDa single chain polypeptide which is unrelated in structure to the type 1 IGF receptor (RECEPTOR, IGF TYPE 1) and does not have a tyrosine kinase domain. IGF Type 2 Receptor,IGF-II Receptor,Receptor, IGF-II,Receptor, Insulin-Like Growth Factor II,Receptor, Insulin-Like Growth Factor Type 2,Receptor, Mannose-6-Phosphate,IGF-2 Receptor,Insulin-Like-Growth-Factor II Receptor,Mannose-6-Phosphate Receptor,Receptors, IGF-2,Receptors, Insulin-Like Growth Factor II,IGF 2 Receptor,IGF II Receptor,IGF-2 Receptors,Insulin Like Growth Factor II Receptor,Mannose 6 Phosphate Receptor,Receptor, IGF II,Receptor, IGF-2,Receptor, Insulin Like Growth Factor II,Receptor, Insulin Like Growth Factor Type 2,Receptor, Insulin-Like-Growth-Factor II,Receptor, Mannose 6 Phosphate,Receptors, IGF 2,Receptors, Insulin Like Growth Factor II

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