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https://hdl.handle.net/2440/23291
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Type: | Journal article |
Title: | Stop-codon read-through for patients affected by a lysosomal storage disorder |
Author: | Brooks, D. Muller, V. Hopwood, J. |
Citation: | Trends in Molecular Medicine, 2006; 12(8):367-373 |
Publisher: | Elsevier Sci Ltd |
Issue Date: | 2006 |
ISSN: | 1471-4914 1471-499X |
Abstract: | Lysosomal storage disorders are a group of inherited diseases that can result in severe and progressive pathology due to a specific lysosomal dysfunction. Current treatment strategies include bone-marrow transplantation, substrate reduction, chemical-chaperone and enzyme-replacement therapy. However, each of these treatments has its limitations. Enhanced stop-codon read-through is a potential alternative or adjunct therapeutic strategy for treating lysosomal-storage-disorder patients. Premature stop-codon mutations have been identified in a large cohort of patients with a lysosomal storage disorder, making stop-codon read-through a possible treatment for this disease. In lysosomal-storage-disorder cells (mucopolysaccharidosis type I, alpha-L-iduronidase deficient), preclinical studies have shown that gentamicin induced the read-through of premature stop codons, resulting in enzyme activity that reduced substrate storage. |
Keywords: | Humans Lysosomal Storage Diseases Gentamicins Codon, Terminator Codon, Nonsense Gene Expression Regulation Models, Biological |
DOI: | 10.1016/j.molmed.2006.06.001 |
Published version: | http://dx.doi.org/10.1016/j.molmed.2006.06.001 |
Appears in Collections: | Aurora harvest 6 Paediatrics publications |
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