Targeting G542X CFTR nonsense alleles with ELX-02 restores CFTR function in human-derived intestinal organoids

Efficacy and safety of ataluren in patients with nonsense-mutation cystic fibrosis not receiving chronic inhaled aminoglycosides: The international, randomized, double-blind, placebo-controlled Ataluren Confirmatory Trial in Cystic Fibrosis (ACT CF)

(2020) M.W. Konstan et al.   Journal of Cystic Fibrosis

ELX-02 generates protein via premature stop codon read-through without inducing native stop codon read-through proteins

(2020) Daniel Crawford et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis

(2019) Gitte Berkers et al.   Cell Reports

Correlating CFTR Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis

(2019) Allison F McCague et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Forskolin-induced swelling of intestinal organoids correlates with disease severity in adults with cystic fibrosis and homozygous F508del mutations

(2019) Karin M. de Winter – de Groot et al.   Journal of Cystic Fibrosis

Positional effects of premature termination codons on the biochemical and biophysical properties of CFTR

(2019) Jiunn‐Tyng Yeh et al.   JOURNAL OF PHYSIOLOGY-LONDON

Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity

(2018) Karen S. Raraigh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Stratifying infants with cystic fibrosis for disease severity using intestinal organoid swelling as a biomarker of CFTR function

(2018) Karin M. de Winter-de Groot et al.   EUROPEAN RESPIRATORY JOURNAL

Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences

(2017) Xiaojiao Xue et al.   HUMAN MOLECULAR GENETICS

Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids

(2016) D.D. Zomer-van Ommen et al.   Journal of Cystic Fibrosis

Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis

(2016) Johanna F. Dekkers et al.   Science Translational Medicine

Synthetic Aminoglycosides Efficiently Suppress Cystic Fibrosis Transmembrane Conductance Regulator Nonsense Mutations and Are Enhanced by Ivacaftor

(2013) Xiaojiao Xue et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Organizing Principles of Mammalian Nonsense-Mediated mRNA Decay

(2013) Maximilian Wei-Lin Popp et al.   Annual Review of Genetics

Increased Selectivity toward Cytoplasmic versus Mitochondrial Ribosome Confers Improved Efficiency of Synthetic Aminoglycosides in Fixing Damaged Genes: A Strategy for Treatment of Genetic Diseases Caused by Nonsense Mutations

(2012) Jeyakumar Kandasamy et al.   JOURNAL OF MEDICINAL CHEMISTRY

microRNA regulation of expression of the cystic fibrosis transmembrane conductance regulator gene

(2011) Austin E. Gillen et al.   BIOCHEMICAL JOURNAL

PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model

(2008) M. Du et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA