Ataluren
产品说明书
 |
同义名 : | PTC124 |
| CAS号 : | 775304-57-9 | |
| 货号 : | A306827 | |
| 分子式 : | C15H9FN2O3 | |
| 纯度 : | 98% | |
| 分子量 : | 284.242 | |
| MDL号 : | MFCD09864996 | |
| 存储条件： |
Pure form Keep in dark place,Inert atmosphere,Room temperature In solvent -20°C:3-6个月-80°C:12个月 |
|
| 溶解度 : |
DMSO: 50 mg/mL(175.91 mM)，注意：DMSO长时间开封后，会吸水并导致溶解能力下降，请避免使用长期开封的DMSO |
|
| 动物实验配方： |
IP 4% DMSO+2% Tween80+40% PEG300+water 1 mg/mL clear PO 0.5% CMC-Na 22 mg/mL suspension |
| 生物活性 | |||
|---|---|---|---|
| 靶点 |
|
||
| 描述 | Nonsense mutations have been implicated in numerous inherited diseases and several cancers. For example, cystic fibrosis (CF) is a common autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. PTC-124 is an orally bioavailable compound that promotes readthrough of premature translation termination codons, suggesting its potential to treat genetic diseases caused by nonsense mutations like mutations in CFTR[3]. The minimal concentration of PTC-124 showing discernable readthrough was 0.01–0.1 μM (2.8-28 ng/ml). And it promoted dose-dependent readthrough of all three nonsense codons in stable cell lines harbouring LUC-190 nonsense alleles[4]. In a mouse model with CF, s.c. injection or oral administration of PTC-124 (60 mg/kg) to Cftr-/- mice expressing a human CFTR-G542X transgene suppressed the G542X nonsense mutation and restored a significant amount of human (h)CFTR protein and function. In addition, PTC-124 (60 mg/kg by s.c. injection or a liquid diet containing 0.9 mg/ml PTC-124) treatment restored 24-29% of the average cAMP-stimulated transepithelial chloride currents observed in wild-type mice. These results indicate that PTC-124 can effectively suppress the hCFTR-G542X nonsense mutation in vivo[3]. | ||
| 细胞研究 | |||||
|---|---|---|---|---|---|
| 细胞系 | 浓度 | 检测类型 | 检测时间 | 活动说明 | 数据源 |
| BAC_MMA∗EGFP | 20 μM | Function Assay | 72 h | results in a significant increase in median peak fluorescence | 23041189 |
| HEK293T | 10 µg/ml | Function Assay | restores full-length harmonin a1 (∼80 kDa) in p.R31X-transfected cells | 23027640 | |
| ML1 | 3.3/10 μM | Function Assay | 48 h | increases ARSB activity | 22971959 |
| 临床研究 | |||||
|---|---|---|---|---|---|
| NCT号 | 适应症或疾病 | 临床期 | 招募状态 | 预计完成时间 | 地点 |
| NCT03256799 | Cystic Fibrosis | Phase 4 | Completed | - | United States, Alabama ... 展开 >> University of Alabama at Birmingham Birmingham, Alabama, United States, 35233 收起 << |
| NCT02139306 | Cystic Fibrosis | Phase 3 | Unknown | November 2016 | - |
| NCT01182324 | - | Completed | - | United States, Maryland ... 展开 >> National Human Genome Research Institute (NHGRI), 9000 Rockville Pike Bethesda, Maryland, United States, 20892 收起 << | |
| 实验方案 | |||
|---|---|---|---|
| 1mg | 5mg | 10mg | |
|
1 mM 5 mM 10 mM |
3.52mL 0.70mL 0.35mL |
17.59mL 3.52mL 1.76mL |
35.18mL 7.04mL 3.52mL |
| 参考文献 |
|---|