囊性纤维化(CF)是北美白种人常见的遗传病,由囊性纤维化跨膜转运蛋白(CFTR)基因突变引起。最常见的是CFTR第508位苯丙氨酸缺失(△F508-CFTR),引起蛋白质异常折叠。内质网相关的泛素连接酶复合体可以有效地识别△F508-CFTR,从而将其降解。因此,△F508-CFTR无法到达细胞膜形成氯离子通道,即使少量到达细胞膜也无法有效打...
例如,Vertex Pharma研发的Orkambi、Symdeko和Trikafta等CFTR调节剂,能够通过提高F508del-CFTR突变蛋白的构象稳定性,减少其降解,使更多CFTR蛋白到达细胞表面,并改善其功能,从而改善患者的疾病表型[7-8]。 图4 野生型CFTR蛋白和F508del-CFTR突变蛋白的结构及CFTR调节剂作用模式[9] 赛业生物自研CFTR人源化及人源化点突变...
一、检测CFTR基因ΔF508位点突变的方法 检测CFTR基因ΔF508位点突变是诊断囊性纤维化(CysticFibrosis,CF)的重要手段。该方法基于聚合酶链反应(PolymeraseChainReaction,PCR)技术,通过特异性的扩增ΔF508突变位点附近的DNA序列,然后利用基因测序或等位基因特异性PCR(AS-PCR)等方法进行检测。ΔF508是一种常见的CFTR基因突...
Tezacaftor是F508del-CFTR校正药物,使F508del突变通道避免降解,有助于CFTR蛋白到达细胞表面,延长细胞表面CFTR蛋白通道的开放时间。囊性纤维化跨膜调节因子(CFTR)是一种维持上皮和其他膜上盐分和液体正确平衡的阴离子通道,CFTR突变是导致囊性纤维化的原因。 产品信息 英文别名 (English Synonym) Tezacaftor, VX-661, ...
KM11060是F508del-CFTR校正剂。注:本品仅可用于科研实验,严禁用于临床医疗及其他用途!CAS号:774549-97-2分子式:C19H17Cl2N3O2S分子量:422.33结构式:储存条件:-20℃,有效期2年,溶入溶剂后-20℃请尽量在一个月内使用。相关搜索:F508del-CFTR校正剂(KM11060),774549-97-2...
Pankow, S.; Bamberger, C.; Calzolari, D.; Martinez-Bartolome, S.; Lavallee-Adam, M.; Balch, W.E.; Yates, J.R., 3rd. F508 CFTR interactome remodelling promotes rescue of cystic fibrosis. Nature 2015, 528, 510-516. [CrossRef] [PubMed]...
Numerous in vitro interventions have been identified to partially rescue 螖F508-CFTR function yet remain poorly understood. Improved understanding of both the altered state of CF cells and the mechanisms of existing rescue strategies could reveal novel therapeutic strategies. Toward this aim, we ...
Deletion of phenylalanine 508 of the cystic fibrosis transmembrane conductance regulator (∆F508 CFTR) is the major cause of cystic fibrosis, one of the most common inherited childhood diseases. The mutated CFTR anion channel is not fully glycosylated
Cystic fibrosis (CF) is caused by mutations in the gene for CFTR, a cAMP-activated anion channel expressed in apical membranes of wet epithelia. Since CFTR is permeable to HCO3−, and may regulate bicarbonate exchangers, it is not surprising evidence of changes in extracellular pH (pHo) ...