Innovative Therapies for Cystic Fibrosis: The Road from Treatment to Cure

Vx-809/Vx-770 treatment reduces inflammatory response to Pseudomonas aeruginosa in primary differentiated cystic fibrosis bronchial epithelial cells

(2018) Manon Ruffin et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Lumacaftor (VX-809) restores the ability of CF macrophages to phagocytose and kill Pseudomonas aeruginosa

(2018) Roxanna Barnaby et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Infection Is Not Required for Mucoinflammatory Lung Disease in CFTR-Knockout Ferrets

(2018) Bradley H. Rosen et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Tezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR

(2018) Scott H. Donaldson et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Partial rescue of F508del-cystic fibrosis transmembrane conductance regulator channel gating with modest improvement of protein processing, but not stability, by a dual-acting small molecule

(2018) Jia Liu et al.   BRITISH JOURNAL OF PHARMACOLOGY

Synthesis and biological evaluation of novel thiazole- VX-809 hybrid derivatives as F508del correctors by QSAR-based filtering tools

(2018) Nara Liessi et al.   EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY

Recent progress in translational cystic fibrosis research using precision medicine strategies

(2018) Deborah M. Cholon et al.   Journal of Cystic Fibrosis

Discovery of 4-[(2R,4R)-4-({[1-(2,2-Difluoro-1,3-benzodioxol-5-yl)cyclopropyl]carbonyl}amino)-7-(difluoromethoxy)-3,4-dihydro-2H-chromen-2-yl]benzoic Acid (ABBV/GLPG-2222), a Potent Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Corrector for the Treatment of Cystic Fibrosis

(2018) Xueqing Wang et al.   JOURNAL OF MEDICINAL CHEMISTRY

A highly specific SpCas9 variant is identified by in vivo screening in yeast

(2018) Antonio Casini et al.   NATURE BIOTECHNOLOGY

Inflammation in cystic fibrosis: An update

(2018) Erica A. Roesch et al.   PEDIATRIC PULMONOLOGY

VX-445–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles

(2018) Dominic Keating et al.   NEW ENGLAND JOURNAL OF MEDICINE

VX-659–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles

(2018) Jane C. Davies et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ataluren in cystic fibrosis: development, clinical studies and where are we now?

(2017) Noreen Zainal Abidin et al.   EXPERT OPINION ON PHARMACOTHERAPY

The evolution of lung transplantation for cystic fibrosis: A 2017 update

(2017) Gregory Snell et al.   Journal of Cystic Fibrosis

Ethnicity impacts the cystic fibrosis diagnosis: A note of caution

(2017) Barbara Bosch et al.   Journal of Cystic Fibrosis

Cancer risk among lung transplant recipients with cystic fibrosis

(2017) Aliza K. Fink et al.   Journal of Cystic Fibrosis

Neutrophil extracellular traps and the dysfunctional innate immune response of cystic fibrosis lung disease: a review

(2017) Sheonagh M. Law et al.   Journal of Inflammation-London

Differential Effects of Angelicin Analogues on NF-κB Activity and IL-8 Gene Expression in Cystic Fibrosis IB3-1 Cells

(2017) Ilaria Lampronti et al.   MEDIATORS OF INFLAMMATION

A Peptide Nucleic Acid against MicroRNA miR-145-5p Enhances the Expression of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in Calu-3 Cells

(2017) Enrica Fabbri et al.   MOLECULES

Tezacaftor–Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis

(2017) Steven M. Rowe et al.   NEW ENGLAND JOURNAL OF MEDICINE

Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del

(2017) Jennifer L. Taylor-Cousar et al.   NEW ENGLAND JOURNAL OF MEDICINE

Powerful tools for genetic modification: Advances in gene editing

(2017) Erica A. Roesch et al.   PEDIATRIC PULMONOLOGY

Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases

(2017) Hana Benhabiles et al.   PLoS One

Abundant off-target edits from site-directed RNA editing can be reduced by nuclear localization of the editing enzyme

(2017) Isabel C. Vallecillo-Viejo et al.   RNA Biology

Delayed neutrophil apoptosis enhances NET formation in cystic fibrosis

(2017) Robert D Gray et al.   THORAX

Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA

(2017) David J. Sanz et al.   PLoS One

The investigational Cystic Fibrosis drug Trimethylangelicin directly modulates CFTR by stabilizing the first membrane-spanning domain

(2016) Onofrio Laselva et al.   BIOCHEMICAL PHARMACOLOGY

The cystic fibrosis transmembrane conductance regulator (CFTR) and its stability

(2016) Xin Meng et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Correctors Rescue CFTR Mutations in Nucleotide-Binding Domain 1 (NBD1) by Modulating Proteostasis

(2016) Miquéias Lopes-Pacheco et al.   CHEMBIOCHEM

Intestinal organoids and personalized medicine in cystic fibrosis

(2016) Jacquelien Noordhoek et al.   CURRENT OPINION IN PULMONARY MEDICINE

Impact of gene editing on the study of cystic fibrosis

(2016) Patrick T. Harrison et al.   HUMAN GENETICS

SYVN1, NEDD8, and FBXO2 Proteins Regulate ΔF508 Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Ubiquitin-mediated Proteasomal Degradation

(2016) Shyam Ramachandran et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

VAMP-associated Proteins (VAP) as Receptors That Couple Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Proteostasis with Lipid Homeostasis

(2016) Wayne L. Ernst et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Acidic pH increases airway surface liquid viscosity in cystic fibrosis

(2016) Xiao Xiao Tang et al.   JOURNAL OF CLINICAL INVESTIGATION

The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients

(2016) Iris Schrijver et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Cystic fibrosis

(2016) J Stuart Elborn   LANCET

Cystic Fibrosis

(2016) Edith T. Zemanick et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients

(2016) Baoying Zheng et al.   PEDIATRIC PULMONOLOGY

Increasing the Endoplasmic Reticulum Pool of the F508del Allele of the Cystic Fibrosis Transmembrane Conductance Regulator Leads to Greater Folding Correction by Small Molecule Therapeutics

(2016) W. Joon Chung et al.   PLoS One

Airway acidification initiates host defense abnormalities in cystic fibrosis mice

(2016) V. S. Shah et al.   SCIENCE

Hypoxia upregulates neutrophil degranulation and potential for tissue injury

(2016) Kim Hoenderdos et al.   THORAX

Analysis of gene repair tracts from Cas9/gRNA double-stranded breaks in the human CFTR gene

(2016) Jennifer A. Hollywood et al.   Scientific Reports

Animal Models of Cystic Fibrosis Pathology: Phenotypic Parallels and Divergences

(2016) Gillian M. Lavelle et al.   Biomed Research International

Lung transplantation for cystic fibrosis: an update

(2016) Cecilia Chaparro et al.   Expert Review of Respiratory Medicine

Chemical-Induced Read-Through at Premature Termination Codons Determined by a Rapid Dual-Fluorescence System Based on S. cerevisiae

(2016) Emiliano Altamura et al.   PLoS One

Endoplasmic Reticulum-Targeted Subunit Toxins Provide a New Approach to Rescue Misfolded Mutant Proteins and Revert Cell Models of Genetic Diseases

(2016) Humaira Adnan et al.   PLoS One

Synthesis and structure–activity relationship of aminoarylthiazole derivatives as correctors of the chloride transport defect in cystic fibrosis

(2015) Emanuela Pesce et al.   EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY

Inflammation in cystic fibrosis lung disease: Pathogenesis and therapy

(2015) André M. Cantin et al.   Journal of Cystic Fibrosis

Novel Hits in the Correction of ΔF508-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Protein: Synthesis, Pharmacological, and ADME Evaluation of Tetrahydropyrido[4,3-d]pyrimidines for the Potential Treatment of Cystic Fibrosis

(2015) Elisabetta Pesci et al.   JOURNAL OF MEDICINAL CHEMISTRY

Free DNA in Cystic Fibrosis Airway Fluids Correlates with Airflow Obstruction

(2015) Veronica Marcos et al.   MEDIATORS OF INFLAMMATION

∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis

(2015) Sandra Pankow et al.   NATURE

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

Synthetic deoxynojirimycin derivatives bearing a thiolated, fluorinated or unsaturated N-alkyl chain: identification of potent α-glucosidase and trehalase inhibitors as well as F508del-CFTR correctors

(2015) V. Cendret et al.   ORGANIC & BIOMOLECULAR CHEMISTRY

Inflammation and its genesis in cystic fibrosis

(2015) David P. Nichols et al.   PEDIATRIC PULMONOLOGY

New pharmacological approaches for cystic fibrosis: Promises, progress, pitfalls

(2015) Scott C. Bell et al.   PHARMACOLOGY & THERAPEUTICS

Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments

(2015) Meenu Singh et al.   RESPIROLOGY

Lung Transplantation for Cystic Fibrosis: Results, Indications, Complications, and Controversies

(2015) David Sayah et al.   SEMINARS IN RESPIRATORY AND CRITICAL CARE MEDICINE

Unravelling druggable signalling networks that control F508del-CFTR proteostasis

(2015) Ramanath Narayana Hegde et al.   eLife

Ferret and Pig Models of Cystic Fibrosis: Prospects and Promise for Gene Therapy

(2015) Ziying Yan et al.   Human Gene Therapy Clinical Development

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

(2015) Lianwu Fu et al.   PLoS One

Rescuing ΔF508 CFTR with trimethylangelicin, a dual-acting corrector and potentiator

(2014) James F. Collawn et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Trimethylangelicin promotes the functional rescue of mutant F508del CFTR protein in cystic fibrosis airway cells

(2014) Maria Favia et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

ΔF508-CFTR correctors: Synthesis and evaluation of thiazole-tethered imidazolones, oxazoles, oxadiazoles, and thiadiazoles

(2014) Long Ye et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

Roscovitine is a proteostasis regulator that corrects the trafficking defect of F508del-CFTR by a CDK-independent mechanism

(2014) C Norez et al.   BRITISH JOURNAL OF PHARMACOLOGY

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

The relative frequency of CFTR mutation classes in European patients with cystic fibrosis

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

Constrained Bithiazoles: Small Molecule Correctors of Defective ΔF508–CFTR Protein Trafficking

(2014) Keith C. Coffman et al.   JOURNAL OF MEDICINAL CHEMISTRY

Pseudomonas aeruginosa reduces the expression of CFTR via post-translational modification of NHERF1

(2014) Rosa Rubino et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

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

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

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

Rescue of Functional CFTR Channels in Cystic Fibrosis: A Dramatic Multivalent Effect Using Iminosugar Cluster-Based Correctors

(2013) Philippe Compain et al.   CHEMBIOCHEM

Discovery of novel potent ΔF508-CFTR correctors that target the nucleotide binding domain

(2013) Norbert Odolczyk et al.   EMBO Molecular Medicine

Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation

(2013) Helge Hebestreit et al.   Journal of Cystic Fibrosis

Tobramycin is a suppressor of premature termination codons

(2013) Nicola Altamura et al.   Journal of Cystic Fibrosis

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

Antibiotic and Anti-Inflammatory Therapies for Cystic Fibrosis

(2013) J. F. Chmiel et al.   Cold Spring Harbor Perspectives in Medicine

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

(2012) Juan L. Mendoza et al.   CELL

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

(2012) Lihua He et al.   FASEB JOURNAL

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

(2012) Eugenio Fernandez Alanis et al.   HUMAN MOLECULAR GENETICS

Treatment of lung infection in patients with cystic fibrosis: Current and future strategies

(2012) Gerd Döring et al.   Journal of Cystic Fibrosis

Ivacaftor potentiation of multiple CFTR channels with gating mutations

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

Structure–Activity Relationships of Cyanoquinolines with Corrector–Potentiator Activity in ΔF508 Cystic Fibrosis Transmembrane Conductance Regulator Protein

(2012) John M. Knapp et al.   JOURNAL OF MEDICINAL CHEMISTRY

Proinflammatory cytokine secretion is suppressed by TMEM16A or CFTR channel activity in human cystic fibrosis bronchial epithelia

(2012) Guido Veit et al.   MOLECULAR BIOLOGY OF THE CELL

Cystic fibrosis: a mucosal immunodeficiency syndrome

(2012) Taylor Sitarik Cohen et al.   NATURE MEDICINE

A Chaperone Trap Contributes to the Onset of Cystic Fibrosis

(2012) Judith A. Coppinger et al.   PLoS One

Managing Cystic Fibrosis

(2011) Malena Cohen-Cymberknoh et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

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

Dual Activity of Aminoarylthiazoles on the Trafficking and Gating Defects of the Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Caused by Cystic Fibrosis Mutations

(2011) Nicoletta Pedemonte et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Splicing defects in the CFTR gene: Minigene analysis of two mutations, 1811+1G>C and 1898+3A>G

(2011) Gwendal Dujardin et al.   Journal of Cystic Fibrosis

Cyanoquinolines with Independent Corrector and Potentiator Activities Restore  Phe508-Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Function in Cystic Fibrosis

(2011) P.-W. Phuan et al.   MOLECULAR PHARMACOLOGY

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

CFTR: folding, misfolding and correcting the ΔF508 conformational defect

(2011) Gergely L. Lukacs et al.   TRENDS IN MOLECULAR MEDICINE

Trimethylangelicin reduces IL-8 transcription and potentiates CFTR function

(2010) Anna Tamanini et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR 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

Anthropological features of the CFTR gene: Its variability in an African population

(2010) Bianca Maria Ciminelli et al.   ANNALS OF HUMAN BIOLOGY

Targeting Transcription Factor Activity as a Strategy to Inhibit Pro- Inflammatory Genes Involved in Cystic Fibrosis: Decoy Oligonucleotides and Low-Molecular Weight Compounds

(2010) G. Cabrini et al.   CURRENT MEDICINAL CHEMISTRY

Small molecule correctors of F508del-CFTR discovered by structure-based virtual screening

(2010) Ori Kalid et al.   JOURNAL OF COMPUTER-AIDED MOLECULAR DESIGN

Pyrazolylthiazole as ΔF508-Cystic Fibrosis Transmembrane Conductance Regulator Correctors with Improved Hydrophilicity Compared to Bithiazoles

(2010) Long Ye et al.   JOURNAL OF MEDICINAL CHEMISTRY

A Chemical Corrector Modifies the Channel Function of F508del-CFTR

(2010) P. K. Chiaw et al.   MOLECULAR PHARMACOLOGY

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 Path to Personalized Medicine

(2010) Margaret A. Hamburg et al.   NEW ENGLAND JOURNAL OF MEDICINE

A review of abdominal organ transplantation in cystic fibrosis

(2010) Brandy R. Lu et al.   PEDIATRIC TRANSPLANTATION

Peripheral Protein Quality Control Removes Unfolded CFTR from the Plasma Membrane

(2010) T. Okiyoneda et al.   SCIENCE

Isoxazolopyrimidines as Novel ΔF508-CFTR Correctors

(2010) A. Verkman et al.   SYNLETT

Emergent Properties of Proteostasis in Managing Cystic Fibrosis

(2010) W. E. Balch et al.   Cold Spring Harbor Perspectives in Biology

Design and synthesis of a hybrid potentiator–corrector agonist of the cystic fibrosis mutant protein ΔF508-CFTR

(2009) Aaron D. Mills et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

Na+/H+ Exchanger Regulatory Factor 1 Overexpression-dependent Increase of Cytoskeleton Organization Is Fundamental in the Rescue of F508del Cystic Fibrosis Transmembrane Conductance Regulator in Human Airway CFBE41o- Cells

(2009) Maria Favia et al.   MOLECULAR BIOLOGY OF THE CELL

A Small-Molecule Modulator Interacts Directly with  Phe508-CFTR to Modify Its ATPase Activity and Conformational Stability

(2009) L. Wellhauser et al.   MOLECULAR PHARMACOLOGY

Chloride channels as drug targets

(2009) Alan S. Verkman et al.   NATURE REVIEWS DRUG DISCOVERY

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

4′-Methyl-4,5′-bithiazole-based correctors of defective ΔF508-CFTR cellular processing

(2008) Choong Leol Yoo et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

Anti-inflammatory effect of miglustat in bronchial epithelial cells

(2008) Maria Cristina Dechecchi et al.   Journal of Cystic Fibrosis

Potents-cis-Locked Bithiazole Correctors of ΔF508 Cystic Fibrosis Transmembrane Conductance Regulator Cellular Processing for Cystic Fibrosis Therapy⊥

(2008) Gui Jun Yu et al.   JOURNAL OF MEDICINAL CHEMISTRY

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

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

(2008) Eitan Kerem et al.   LANCET