Rubenstein R C, Zeitlin P L
Johns Hopkins Hospital, Baltimore, MD 21287, USA.
Curr Opin Pediatr. 1998 Jun;10(3):250-5. doi: 10.1097/00008480-199806000-00005.
Disruption in the biosynthesis or function the cystic fibrosis transmembrane conductance regulator (CFTR) results from over 700 different mutations in the CFTR gene. It is useful to classify these mutations by the nature of the resulting defect. Understanding the molecular mechanism that leads to CFTR dysfunction stimulates the design of therapeutic strategies based on restoration of CFTR function to the mutant protein, or "protein repair therapy." This review links the classification of CFTR mutations to a number of new pharmacologic strategies that lead to enhancement of CFTR function by manipulation of mutant CFTR.
囊性纤维化跨膜传导调节因子（CFTR）生物合成或功能的破坏源于CFTR基因中700多种不同的突变。根据所产生缺陷的性质对这些突变进行分类是有用的。了解导致CFTR功能障碍的分子机制有助于设计基于恢复突变蛋白CFTR功能的治疗策略，即“蛋白质修复疗法”。本综述将CFTR突变的分类与一些新的药理学策略联系起来，这些策略通过操纵突变型CFTR来增强CFTR功能。
