Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/23291
Citations | ||
Scopus | Web of ScienceĀ® | Altmetric |
---|---|---|
?
|
?
|
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Brooks, D. | - |
dc.contributor.author | Muller, V. | - |
dc.contributor.author | Hopwood, J. | - |
dc.date.issued | 2006 | - |
dc.identifier.citation | Trends in Molecular Medicine, 2006; 12(8):367-373 | - |
dc.identifier.issn | 1471-4914 | - |
dc.identifier.issn | 1471-499X | - |
dc.identifier.uri | http://hdl.handle.net/2440/23291 | - |
dc.description.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. | - |
dc.language.iso | en | - |
dc.publisher | Elsevier Sci Ltd | - |
dc.source.uri | http://dx.doi.org/10.1016/j.molmed.2006.06.001 | - |
dc.subject | Humans | - |
dc.subject | Lysosomal Storage Diseases | - |
dc.subject | Gentamicins | - |
dc.subject | Codon, Terminator | - |
dc.subject | Codon, Nonsense | - |
dc.subject | Gene Expression Regulation | - |
dc.subject | Models, Biological | - |
dc.title | Stop-codon read-through for patients affected by a lysosomal storage disorder | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1016/j.molmed.2006.06.001 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Brooks, D. [0000-0001-9098-3626] | - |
Appears in Collections: | Aurora harvest 6 Paediatrics publications |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.