Associated Papers
Suppressor tRNAs as personalized therapy for nonsense mutation-associated pathologies.
Ignatova Z et al.
Pharmacology & Therapeutics, 2025
Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.
Burgel PR et al.
Eclinicalmedicine, 2025
40932846 (PubMed )
Supplement: mmc2.xlsx › EXCEPTIONAL
An engineered glutamic acid tRNA for efficient suppression of pathogenic nonsense mutations.
Specht C et al.
Nucleic Acids Research, 2025
Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.
Mei-Zahav M et al.
Erj Open Research, 2025
39811546 (PubMed )
Supplement: 00587-2024.SUPPLEMENT.pdf
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
Sharma N et al.
Plos Genetics, 2018
Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators.
Pranke IM et al.
Scientific Reports, 2017
A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction.
Sharma N et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2016
Facilitating Structure-Function Studies of CFTR Modulator Sites with Efficiencies in Mutagenesis and Functional Screening.
Molinski SV et al.
Journal of Biomolecular Screening, 2015
Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis.
Sermet-Gaudelus I et al.
Thorax, 2010
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