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

Improved Clinical and Radiographic Outcomes After Treatment With Ivacaftor in a Young Adult With Cystic Fibrosis With the P67L CFTR Mutation

(2015) Shatha Yousef et al.   CHEST

Origins of Cystic Fibrosis Lung Disease

(2015) David A. Stoltz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR

(2015) Claire E. Wainwright et al.   NEW ENGLAND JOURNAL OF MEDICINE

Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial

(2015) Richard B Moss et al.   Lancet Respiratory Medicine

Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis

(2015) Nikhil T. Awatade et al.   EBioMedicine

Rescue of NBD2 Mutants N1303K and S1235R of CFTR by Small-Molecule Correctors and Transcomplementation

(2015) Daniele Rapino et al.   PLoS One

ΔF508 CFTR Surface Stability Is Regulated by DAB2 and CHIP-Mediated Ubiquitination in Post-Endocytic Compartments

(2015) Lianwu Fu et al.   PLoS One

CFTR potentiators partially restore channel function to A561E-CFTR, a cystic fibrosis mutant with a similar mechanism of dysfunction as F508del-CFTR

(2014) Yiting Wang et al.   BRITISH JOURNAL OF PHARMACOLOGY

Low socioeconomic status is associated with worse lung function in the Danish cystic fibrosis population

(2014) D. C. Taylor-Robinson et al.   EUROPEAN RESPIRATORY JOURNAL

Toward a Rationale for the PTC124 (Ataluren) Promoted Readthrough of Premature Stop Codons: A Computational Approach and GFP-Reporter Cell-Based Assay

(2014) Laura Lentini et al.   MOLECULAR PHARMACEUTICS

Cystic fibrosis genetics: from molecular understanding to clinical application

(2014) Garry R. Cutting   NATURE REVIEWS GENETICS

Detrimental effects of secondhand smoke exposure on infants with cystic fibrosis

(2014) Benjamin T. Kopp et al.   PEDIATRIC PULMONOLOGY

A Little CFTR Goes a Long Way: CFTR-Dependent Sweat Secretion from G551D and R117H-5T Cystic Fibrosis Subjects Taking Ivacaftor

(2014) Jessica E. Char et al.   PLoS One

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

A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial

(2014) Michael P Boyle et al.   Lancet Respiratory 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

Corrector VX-809 stabilizes the first transmembrane domain of CFTR

(2013) Tip W. Loo et al.   BIOCHEMICAL PHARMACOLOGY

Revertants, Low Temperature, and Correctors Reveal the Mechanism of F508del-CFTR Rescue by VX-809 and Suggest Multiple Agents for Full Correction

(2013) Carlos M. Farinha et al.   CHEMISTRY & BIOLOGY

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function

(2013) Fredrick Van Goor et al.   Journal of Cystic Fibrosis

VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1

(2013) Hong Yu Ren et al.   MOLECULAR BIOLOGY OF THE CELL

Mechanism-based corrector combination restores ΔF508-CFTR folding and function

(2013) Tsukasa Okiyoneda et al.   Nature Chemical Biology

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

(2013) Patrick R Sosnay et al.   NATURE GENETICS

Characterization of pulmonary function impairments in patients with mucopolysaccharidoses-changes with age and treatment

(2013) Shuan-Pei Lin et al.   PEDIATRIC PULMONOLOGY

Targeting autophagy as a novel strategy for facilitating the therapeutic action of potentiators on ΔF508 cystic fibrosis transmembrane conductance regulator

(2012) Alessandro Luciani et al.   Autophagy

Requirements for Efficient Correction of ΔF508 CFTR Revealed by Analyses of Evolved Sequences

(2012) Juan L. Mendoza et al.   CELL

Correction of Both NBD1 Energetics and Domain Interface Is Required to Restore ΔF508 CFTR Folding and Function

(2012) Wael M. Rabeh et al.   CELL

Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein

(2012) Lihua He et al.   FASEB JOURNAL

Ivacaftor potentiation of multiple CFTR channels with gating mutations

(2012) Haihui Yu et al.   Journal of Cystic Fibrosis

Reduced airway surface pH impairs bacterial killing in the porcine cystic fibrosis lung

(2012) Alejandro A. Pezzulo et al.   NATURE

Increased folding and channel activity of a rare cystic fibrosis mutant with CFTR modulators

(2011) Ray A. Caldwell et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

(2011) M. Wilschanski et al.   EUROPEAN RESPIRATORY JOURNAL

Hyperviscous airway periciliary and mucous liquid layers in cystic fibrosis measured by confocal fluorescence photobleaching

(2011) Nico Derichs et al.   FASEB JOURNAL

Curcumin and genistein additively potentiate G551D-CFTR

(2011) Ying-Chun Yu et al.   Journal of Cystic Fibrosis

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

Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for theF508del-CFTRmutation

(2011) J P Clancy et al.   THORAX

Influence of cell background on pharmacological rescue of mutant CFTR

(2010) Nicoletta Pedemonte et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Ataluren (PTC124) Induces Cystic Fibrosis Transmembrane Conductance Regulator Protein Expression and Activity in Children with Nonsense Mutation Cystic Fibrosis

(2010) Isabelle Sermet-Gaudelus et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

A Stabilizing Influence: CAL PDZ Inhibition Extends the Half-Life of ΔF508-CFTR

(2010) Patrick R. Cushing et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Modifier genes in Mendelian disorders: the example of cystic fibrosis

(2010) Garry R. Cutting   Annals of the New York Academy of Sciences

Loss of Anion Transport without Increased Sodium Absorption Characterizes Newborn Porcine Cystic Fibrosis Airway Epithelia

(2010) Jeng-Haur Chen et al.   CELL

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

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

Peripheral Protein Quality Control Removes Unfolded CFTR from the Plasma Membrane

(2010) T. Okiyoneda et al.   SCIENCE

Cooperative Assembly and Misfolding of CFTR Domains In Vivo

(2009) Kai Du et al.   MOLECULAR BIOLOGY OF THE CELL

Reduced histone deacetylase 7 activity restores function to misfolded CFTR in cystic fibrosis

(2009) Darren M Hutt et al.   Nature Chemical Biology

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

Update on gene modifiers in cystic fibrosis

(2008) Joseph M Collaco et al.   CURRENT OPINION IN PULMONARY MEDICINE

Improvement in clinical markers in CF patients using a reduced glutathione regimen: An uncontrolled, observational study

(2008) Alfredo Visca et al.   Journal of Cystic Fibrosis

The prevalence of cystic fibrosis in the European Union

(2008) Philip M. Farrell   Journal of Cystic Fibrosis

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