| Description | NMDI14 is an inhibitor of nonsense mediated RNA decay (NMD). |
| In vitro | 将NMDI14处理细胞6小时后，PTC 39 β珠蛋白增加至12%，相对增加了四倍，这种增加若能产生生物活性血红蛋白，足以改善地中海贫血的临床症状[1]。NMDI14作为无意义介导的mRNA降解（NMD）的抑制剂，能够将W1282X mRNA恢复至几乎50%的WT水平，这在亲本NE细胞中得以实现。对于W1282X纯合子的NE细胞，RNA测序结果显示CFTR转录本水平降至WT的1.7%（p值：4.6e-3）。即使CFTR转录本水平远高于亲代及先证者观察水平，由表达W1282X EMG的Flp-In 293细胞产生的截断CFTR蛋白可以忽略不计。最后，NMD抑制提高了在Flp-In-293细胞中表达的W1282X-CFTR蛋白的稳定性及对校正剂的响应[2]。 |
| molecular weight | 415.51 |
| Molecular formula | C21H25N3O4S |
| CAS | 307519-88-6 |
| Storage | Powder: -20°C for 3 years | In solvent: -80°C for 1 year | Shipping with blue ice. |
| Solubility | DMSO: < 1 mg/mL (insoluble） |
| References | 1. Martin L, et al. Identification and characterization of small molecules that inhibit nonsense-mediated RNA decay and suppress nonsense p53 mutations. Cancer Res. 2014 Jun 1;74(11):3104-1 2. Aksit M A , Bowling A D , Evans T A , et al. Decreased mRNA and protein stability of W1282X limits response to modulator therapy[J]. Journal of Cystic Fibrosis, 2019, 18(5). |