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dc.contributor.authorBrooks, D.en
dc.contributor.authorMuller, V.en
dc.contributor.authorHopwood, J.en
dc.identifier.citationTrends in Molecular Medicine, 2006; 12(8):367-373en
dc.description.abstractLysosomal 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.en
dc.publisherElsevier Sci Ltden
dc.subjectHumans; Lysosomal Storage Diseases; Gentamicins; Codon, Terminator; Codon, Nonsense; Gene Expression Regulation; Models, Biologicalen
dc.titleStop-codon read-through for patients affected by a lysosomal storage disorderen
dc.typeJournal articleen
pubs.library.collectionPaediatrics publicationsen
dc.identifier.orcidBrooks, D. [0000-0001-9098-3626]en
Appears in Collections:Paediatrics publications

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