Isabelle Sermet‐Gaudelus

The paper constructs a CF signalling network from transcriptomic data to identify dysregulated proteins and potential therapeutic targets in Cystic Fibrosis.

This study shows TLN468 promotes specific amino acid incorporation at CFTR PTCs, leading to functional CFTR variants, while gentamicin does not significantly alter amino acid proportions.

This study investigates the mechanism of N1303K-CFTR rescue by ELX/TEZ and ETI combotherapy, showing increased protein amounts and activity with potential clinical benefits.

The paper introduces rROMA, a software package for computing gene set activity from omics data, and applies it to cystic fibrosis transcriptomic data to identify disease-related pathways and potential biases.

This study develops an antisense oligonucleotide (ASO) therapy for CF patients with the 3849+10kb C-to-T splicing mutation, showing restoration of CFTR function in patient-derived cells.

The paper identifies two distinct VX-809 binding sites on CFTR that are critical for corrector efficacy, showing different sensitivity to mutations and allostery.