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https://hdl.handle.net/2440/7701
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Type: | Journal article |
Title: | Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients |
Author: | Matte, U. Yogalingam, G. Brooks, D. Leistner, S. Schwartz, I. Lima, L. Norato, D. Brum, J. Beesley, C. Winchester, B. Giugliani, R. Hopwood, J. |
Citation: | Molecular Genetics and Metabolism, 2003; 78(1):37-43 |
Publisher: | Academic Press Inc Elsevier Science |
Issue Date: | 2003 |
ISSN: | 1096-7192 1096-7206 |
Statement of Responsibility: | Matte, Ursula ; Yogalingam, Gouri ; Brooks, Doug ; Leistner, Sandra ; Schwartz, Ida ; Lima, Luciane ; Norato, Denise Y ; Brum, Jaime M ; Beesley, Clare ; Winchester, Bryan ; Giugliani, Roberto ; Hopwood, John J |
Abstract: | In this study we have investigated a group of 29 Brazilian patients, who had been diagnosed with the lysosomal storage disorder, Mucopolysaccharidosis type I (MPS-I). MPS I is caused by a deficiency in the lysosomal hydrolase, alpha-L-iduronidase. Ninety percent of the MPS I patients in this study were genotyped and revealed 10 recurrent and thirteen novel IDUA gene mutations. Eight of these new mutations and three common mutations W402X, P533R, and R383H were individually expressed in CHO-K1 cells and analyzed for alpha-L-iduronidase protein and enzyme activity. A correlation was observed between the MPS I patient clinical phenotype and the associated mutant alpha-L-iduronidase protein/enzyme activity expressed in CHO-K1 cells. This was the first time that Brazilian MPS I patients had been thoroughly analyzed and highlighted the difficulties of mutation screening and clinical phenotype assessment in populations with high numbers of unique mutations. |
Keywords: | CHO Cells Animals Humans Mucopolysaccharidosis I Iduronidase DNA Blotting, Western Transfection DNA Mutational Analysis Gene Expression Regulation, Enzymologic Mutation Polymorphism, Single-Stranded Conformational Cricetinae |
DOI: | 10.1016/S1096-7192(02)00200-7 |
Published version: | http://dx.doi.org/10.1016/s1096-7192(02)00200-7 |
Appears in Collections: | Aurora harvest 4 Paediatrics publications |
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