The synthetic aminoglycoside ELX-02 induces readthrough of G550X-CFTR producing superfunctional protein that can be further enhanced by CFTR modulators

Abstract excerpt

We found that forskolin-induced swelling in G550X-CFTR patient-derived intestinal organoids (PDOs) was significantly higher than in G542X-CFTR PDOs after treatment with ELX-02. Tryptophan (W) was the sole amino acid inserted in the G550X position after readthrough. Resulting G550W-CFTR protein exhibited supernormal CFTR activity, PKA sensitivity, and open probability. These results show that...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Bacterial Genetics and Biotechnology
• Share to Cystic Fibrosis Research Advances
• Share to Neonatal Respiratory Health Research