Search results for "ocular therapy"

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Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations

2019

The identification of genetic defects that underlie inherited retinal diseases (IRDs) paves the way for the development of therapeutic strategies. Nonsense mutations caused approximately 12% of all IRD cases, resulting in a premature termination codon (PTC). Therefore, an approach that targets nonsense mutations could be a promising pharmacogenetic strategy for the treatment of IRDs. Small molecules (translational read-through inducing drugs

0301 basic medicinepatient-derived fibroblastsUsher syndromechemistry.chemical_compound0302 clinical medicineMedicineTRIDSpectroscopyCells CulturedExtracellular Matrix ProteinsOxadiazolesGeneral MedicinePhenotypeImmunohistochemistryComputer Science ApplicationsRetinitis pigmentosaCodon Nonsenseocular therapyUsher syndromeUsher SyndromesNonsense mutationModels BiologicalCatalysisArticleInorganic Chemistry03 medical and health sciencesStructure-Activity RelationshipAtalurenCiliogenesisparasitic diseasesRetinitis pigmentosaHumansGenetic Predisposition to DiseasePhysical and Theoretical ChemistryMolecular BiologyGenetranslational read-throughbusiness.industryOrganic ChemistryHEK 293 cellsFibroblastsmedicine.diseaseAtaluren030104 developmental biologyHEK293 CellschemistryProtein BiosynthesisMutationCancer researchbusiness030217 neurology & neurosurgeryInternational Journal of Molecular Sciences
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