oxadiazoles and Retinal-Degeneration

oxadiazoles has been researched along with Retinal-Degeneration* in 1 studies

Other Studies

1 other study(ies) available for oxadiazoles and Retinal-Degeneration

Article	Year
Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model. Human molecular genetics, 2016, 08-15, Volume: 25, Issue:16 Choroideremia (CHM) is an X-linked chorioretinal dystrophy that is caused by mutations within a single gene, CHM Currently no effective treatment exists for these patients. Since over 30% of patients harbour nonsense mutations in CHM, nonsense suppression therapy using translational readthrough inducing drugs may provide functional rescue of REP1, thus attenuating progressive sight loss. Here, we employed two CHM model systems to systematically test the efficacy and safety of ataluren (PTC124) and its novel analog PTC-414: (1) the chm Topics: Adaptor Proteins, Signal Transducing; Animals; Apoptosis; Choroideremia; Codon, Nonsense; Disease Models, Animal; Fibroblasts; Humans; Oxadiazoles; Oxidative Stress; Retina; Retinal Degeneration; Zebrafish; Zebrafish Proteins	2016

Article

Year

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.

Human molecular genetics, 2016, 08-15, Volume: 25, Issue:16

Choroideremia (CHM) is an X-linked chorioretinal dystrophy that is caused by mutations within a single gene, CHM Currently no effective treatment exists for these patients. Since over 30% of patients harbour nonsense mutations in CHM, nonsense suppression therapy using translational readthrough inducing drugs may provide functional rescue of REP1, thus attenuating progressive sight loss. Here, we employed two CHM model systems to systematically test the efficacy and safety of ataluren (PTC124) and its novel analog PTC-414: (1) the chm

Topics: Adaptor Proteins, Signal Transducing; Animals; Apoptosis; Choroideremia; Codon, Nonsense; Disease Models, Animal; Fibroblasts; Humans; Oxadiazoles; Oxidative Stress; Retina; Retinal Degeneration; Zebrafish; Zebrafish Proteins

2016