High-Throughput Screening for Readthrough Modulators of CFTR PTC Mutations

From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations

(2016) Gudio Veit et al.   MOLECULAR BIOLOGY OF THE CELL

Robust Stimulation of W1282X-CFTR Channel Activity by a Combination of Allosteric Modulators

(2016) Wei Wang et al.   PLoS One

Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression

(2016) Bijoyita Roy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Some gating potentiators, including VX-770, diminish  F508-CFTR functional expression

(2014) G. Veit et al.   Science Translational Medicine

Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial

(2014) Eitan Kerem et al.   Lancet Respiratory Medicine

Organizing Principles of Mammalian Nonsense-Mediated mRNA Decay

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

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

(2013) Patrick R Sosnay et al.   NATURE GENETICS

A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect

(2013) Michael P Boyle et al.   Lancet Respiratory Medicine

Suppression of premature termination codons as a therapeutic approach

(2012) Kim M. Keeling et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Identification of a NBD1-Binding Pharmacological Chaperone that Corrects the Trafficking Defect of F508del-CFTR

(2011) Heidi M. Sampson et al.   CHEMISTRY & BIOLOGY

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

(2011) Bonnie W. Ramsey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809

(2011) F. Van Goor et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTRMutation

(2010) Frank J. Accurso et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770

(2009) F. Van Goor et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

(2008) Philip M. Farrell et al.   JOURNAL OF PEDIATRICS