Targeted therapies to improve CFTR function in cystic fibrosis

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

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

A New Initiative on Precision Medicine

(2015) Francis S. Collins 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

Targeted Correction and Restored Function of the CFTR Gene in Cystic Fibrosis Induced Pluripotent Stem Cells

(2015) Ana M. Crane et al.   Stem Cell Reports

Ivacaftor: From Bench to Bedside . . . and Back Again

(2014) Kevin Molloy et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Clinical Mechanism of the Cystic Fibrosis Transmembrane Conductance Regulator Potentiator Ivacaftor in G551D-mediated Cystic Fibrosis

(2014) Steven M. Rowe et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Gene therapy in cystic fibrosis

(2014) D. K. Armstrong et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Effects of Ivacaftor in Patients With Cystic Fibrosis Who Carry the G551D Mutation and Have Severe Lung Disease

(2014) Peter J. Barry et al.   CHEST

A new era in the treatment of cystic fibrosis

(2014) M. A. Lane et al.   CLINICAL MEDICINE

Ivacaftor for the treatment of patients with cystic fibrosis and the G551D mutation: a systematic review and cost-effectiveness analysis

(2014) Penny Whiting et al.   HEALTH TECHNOLOGY ASSESSMENT

Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation

(2014) Kris De Boeck et al.   Journal of Cystic Fibrosis

Ataluren treatment of patients with nonsense mutation dystrophinopathy

(2014) Katharine Bushby et al.   MUSCLE & NERVE

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

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

Potentiator ivacaftor abrogates pharmacological correction of  F508 CFTR in cystic fibrosis

(2014) D. M. Cholon et al.   Science Translational Medicine

Paying twice: questions over high cost of cystic fibrosis drug developed with charitable funding

(2014) D. Cohen et al.   BMJ-British Medical Journal

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

Long-term safety and efficacy of ivacaftor in patients with cystic fibrosis who have the Gly551Asp- CFTR mutation: a phase 3, open-label extension study (PERSIST)

(2014) Edward F McKone et al.   Lancet Respiratory Medicine

Efficacy and Safety of Ivacaftor in Patients Aged 6 to 11 Years with Cystic Fibrosis with aG551DMutation

(2013) Jane C. Davies et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Cystic Fibrosis Pulmonary Guidelines

(2013) Peter J. Mogayzel et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Functional Repair of CFTR by CRISPR/Cas9 in Intestinal Stem Cell Organoids of Cystic Fibrosis Patients

(2013) Gerald Schwank et al.   Cell Stem Cell

Control of cystic fibrosis transmembrane conductance regulator membrane trafficking: not just from the endoplasmic reticulum to the Golgi

(2013) Carlos M. Farinha et al.   FEBS Journal

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

A functional CFTR assay using primary cystic fibrosis intestinal organoids

(2013) Johanna F Dekkers et al.   NATURE MEDICINE

Airway inflammation in cystic fibrosis: molecular mechanisms and clinical implications

(2013) Malena Cohen-Cymberknoh et al.   THORAX

A Lack of Premature Termination Codon Read-Through Efficacy of PTC124 (Ataluren) in a Diverse Array of Reporter Assays

(2013) Stuart P. McElroy et al.   PLOS BIOLOGY

Assessment of clinical response to ivacaftor with lung clearance index in cystic fibrosis patients with a G551D- CFTR mutation and preserved spirometry: a randomised controlled trial

(2013) Jane Davies et al.   Lancet Respiratory Medicine

Development of primary human nasal epithelial cell cultures for the study of cystic fibrosis pathophysiology

(2012) F. de Courcey et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Emerging Targeted Therapies in Cancer

(2012) Lucian R. Chirieac   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Ivacaftor in Subjects With Cystic Fibrosis Who Are Homozygous for the F508del-CFTR Mutation

(2012) Patrick A. Flume et al.   CHEST

Ivacaftor potentiation of multiple CFTR channels with gating mutations

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

Drug bests cystic-fibrosis mutation

(2012) Heidi Ledford   NATURE

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

(2012) Alejandro A. Pezzulo et al.   NATURE

Cystic Fibrosis: therapies targeting specific gene defects

(2012) Rebecca M. Thursfield et al.   Paediatric Respiratory Reviews

A Periciliary Brush Promotes the Lung Health by Separating the Mucus Layer from Airway Epithelia

(2012) B. Button et al.   SCIENCE

Targeting F508del-CFTR to develop rational new therapies for cystic fibrosis

(2011) Zhi-wei Cai et al.   ACTA PHARMACOLOGICA SINICA

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

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

Assessment of CFTR function in homozygous R117H-7T subjects

(2011) R.A. de Nooijer 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

The n-of-1 clinical trial: the ultimate strategy for individualizing medicine?

(2011) Elizabeth O Lillie et al.   Personalized Medicine

Is CFTR-delF508 Really Absent from the Apical Membrane of the Airway Epithelium?

(2011) Lee A. Borthwick et al.   PLoS One

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

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

Ceramide Is Increased in the Lower Airway Epithelium of People with Advanced Cystic Fibrosis Lung Disease

(2010) Malcolm Brodlie et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Primary bronchial epithelial cell culture from explanted cystic fibrosis lungs

(2010) Malcolm Brodlie et al.   EXPERIMENTAL LUNG RESEARCH

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

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

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

(2009) C Thauvin-Robinet et al.   JOURNAL OF MEDICAL GENETICS

Cystic fibrosis

(2009) Brian P O'Sullivan et al.   LANCET

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

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

(2008) Eitan Kerem et al.   LANCET

Ceramide accumulation mediates inflammation, cell death and infection susceptibility in cystic fibrosis

(2008) Volker Teichgräber et al.   NATURE MEDICINE