Ontology highlight
ABSTRACT:
SUBMITTER: Kamei M
PROVIDER: S-EPMC4110339 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Kamei Makoto M Kasperski Karissa K Fuller Maria M Parkinson-Lawrence Emma J EJ Karageorgos Litsa L Belakhov Valery V Baasov Timor T Hopwood John J JJ Brooks Doug A DA
JIMD reports 20131106
The premature stop codon mutations, Q70X and W402X, are the most common α-L-iduronidase gene (IDUA) mutations in mucopolysaccharidosis type I (MPS I) patients. Read-through drugs have been used to suppress premature stop codons, and this can potentially be used to treat patients who have this type of mutation. We examined the effects of aminoglycoside treatment on the IDUA mutations Q70X and W402X in cultured cells and show that 4,5-disubstituted aminoglycosides induced more read-through for the ...[more]