Article
Rare Trafficking CFTR Mutations Involve Distinct Cellular Retention Machineries and Require Different Rescuing Strategies.
International journal of molecular sciences - 21 Dec 2021
Ramalho Sofia S, Silva Iris A L, Amaral Margarida D, Farinha Carlos M
Abstract excerpt
Most of the ~2100 CFTR variants so far reported are very rare and still uncharacterized regarding their cystic fibrosis (CF) disease liability. Since some may respond to currently approved modulators, characterizing their defect and response to these drugs is essential. Here we aimed characterizing the defect associated with four rare missense (likely Class II) CFTR variants and assess their rescue by corrector...
Topics
- Benzodioxoles
- Cell Line
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Female
- Humans
- Indoles
- Male
- Mutation
- Pyrazoles
- Pyridines