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https://hdl.handle.net/2440/7712
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Type: | Journal article |
Title: | Purification and characterization of recombinant murine sulfamidase |
Author: | Gliddon, B. Yogalingam, G. Hopwood, J. |
Citation: | Molecular Genetics and Metabolism, 2004; 83(3):239-245 |
Publisher: | Academic Press Inc Elsevier Science |
Issue Date: | 2004 |
ISSN: | 1096-7192 1096-7206 |
Abstract: | Mucopolysaccharidosis type IIIA (MPS IIIA) is a lysosomal storage disorder caused by a deficiency in the lysosomal enzyme sulfamidase, which is required for the degradation of heparan sulfate. The disease is characterized by neurological dysfunction but relatively mild somatic manifestations. A naturally occurring mouse model to MPS IIIA exhibits a similar disease progression to that observed in patients. Disease in the mice results from a base substitution at codon 31 in the sulfamidase gene, altering an aspartic acid to an asparagine (D31N). This aspartic 31 is involved in binding of the divalent metal ion needed for catalytic function, and as such reduces the specific activity of the enzyme to about 3% of that of wild-type. The mutant protein has decreased stability and shows increased degradation over a 24 h chase period when compared to wild-type mouse sulfamidase. Mouse sulfamidase that was purified using a two-step ion exchange procedure was shown to have similar kinetic properties to that of purified human sulfamidase. Recombinant murine sulfamidase was able to correct the storage phenotype of MPS IIIA fibroblasts after endocytosis via the mannose-6-phosphate receptor. |
Keywords: | CHO Cells Fibroblasts Animals Cricetulus Mice Mucopolysaccharidosis III Disease Models, Animal Hydrolases Receptor, IGF Type 2 Recombinant Proteins Staining and Labeling Immunoprecipitation Kinetics Mutation, Missense Cricetinae |
DOI: | 10.1016/j.ymgme.2004.07.016 |
Published version: | http://dx.doi.org/10.1016/j.ymgme.2004.07.016 |
Appears in Collections: | Aurora harvest Paediatrics publications |
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