Related references
Note: Only part of the references are listed.Improved Clinical and Radiographic Outcomes After Treatment With Ivacaft or in a Young Adult With Cystic Fibrosis With the P67L CFTR Mutation
Shatha Yousef et al.
CHEST (2015)
Origins of Cystic Fibrosis Lung Disease
David A. Stoltz et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR
C. E. Wainwright et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial
Richard B. Moss et al.
LANCET RESPIRATORY MEDICINE (2015)
Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis
Nikhil T. Awatade et al.
EBIOMEDICINE (2015)
Cystic fibrosis genetics: from molecular understanding to clinical application
Garry R. Cutting
NATURE REVIEWS GENETICS (2015)
Detrimental Effects of Secondhand Smoke Exposure on Infants With Cystic Fibrosis
Benjamin T. Kopp et al.
PEDIATRIC PULMONOLOGY (2015)
Rescue of NBD2 Mutants N1303K and S1235R of CFTR by Small-Molecule Correctors and Transcomplementation
Daniele Rapino et al.
PLOS ONE (2015)
ΔF508 CFTR Surface Stability Is Regulated by DAB2 and CHIP-Mediated Ubiquitination in Post-Endocytic Compartments
Lianwu Fu et al.
PLOS ONE (2015)
Synthetic Aminoglycosides Efficiently Suppress Cystic Fibrosis Transmembrane Conductance Regulator Nonsense Mutations and Are Enhanced by Ivacaftor
Xiaojiao Xue et al.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2014)
CFTR potentiators partially restore channel function to A561E-CFTR, a cystic fibrosis mutant with a similar mechanism of dysfunction as F508del-CFTR
Yiting Wang et al.
BRITISH JOURNAL OF PHARMACOLOGY (2014)
Low socioeconomic status is associated with worse lung function in the Danish cystic fibrosis population
David C. Taylor-Robinson et al.
EUROPEAN RESPIRATORY JOURNAL (2014)
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function
Fredrick Van Goor et al.
JOURNAL OF CYSTIC FIBROSIS (2014)
Toward a Rationale for the PTC124 (Ataluren) Promoted Readthrough of Premature Stop Codons: A Computational Approach and GFP-Reporter Cell-Based Assay
Laura Lentini et al.
MOLECULAR PHARMACEUTICS (2014)
Characterization of Pulmonary Function Impairments in Patients With Mucopolysaccharidoses-Changes With Age and Treatment
Shuan-Pei Lin et al.
PEDIATRIC PULMONOLOGY (2014)
A Little CFTR Goes a Long Way: CFTR-Dependent Sweat Secretion from G551D and R117H-5T Cystic Fibrosis Subjects Taking Ivacaftor
Jessica E. Char et al.
PLOS ONE (2014)
Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression
Guido Veit et al.
SCIENCE TRANSLATIONAL MEDICINE (2014)
Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial
Elton Kerem et al.
LANCET RESPIRATORY MEDICINE (2014)
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
Michael P. Boyle et al.
LANCET RESPIRATORY MEDICINE (2014)
Corrector VX-809 stabilizes the first transmembrane domain of CFTR
Tip W. Loo et al.
BIOCHEMICAL PHARMACOLOGY (2013)
Revertants, Low Temperature, and Correctors Reveal the Mechanism of F508del-CFTR Rescue by VX-809 and Suggest Multiple Agents for Full Correction
Carlos M. Farinha et al.
CHEMISTRY & BIOLOGY (2013)
Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein
Lihua He et al.
FASEB JOURNAL (2013)
VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1
Hong Yu Ren et al.
MOLECULAR BIOLOGY OF THE CELL (2013)
Mechanism-based corrector combination restores ΔF508-CFTR folding and function
Tsukasa Okiyoneda et al.
NATURE CHEMICAL BIOLOGY (2013)
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Patrick R. Sosnay et al.
NATURE GENETICS (2013)
Targeting autophagy as a novel strategy for facilitating the therapeutic action of potentiators on ΔF508 cystic fibrosis transmembrane conductance regulator
Alessandro Luciani et al.
AUTOPHAGY (2012)
Requirements for Efficient Correction of ΔF508 CFTR Revealed by Analyses of Evolved Sequences
Juan L. Mendoza et al.
CELL (2012)
Correction of Both NBD1 Energetics and Domain Interface Is Required to Restore ΔF508 CFTR Folding and Function
Wael M. Rabeh et al.
CELL (2012)
Ivacaftor potentiation of multiple CFTR channels with gating mutations
Haihui Yu et al.
JOURNAL OF CYSTIC FIBROSIS (2012)
Reduced airway surface pH impairs bacterial killing in the porcine cystic fibrosis lung
Alejandro A. Pezzulo et al.
NATURE (2012)
Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation
J. P. Clancy et al.
THORAX (2012)
Increased folding and channel activity of a rare cystic fibrosis mutant with CFTR modulators
Ray A. Caldwell et al.
AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2011)
Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis
M. Wilschanski et al.
EUROPEAN RESPIRATORY JOURNAL (2011)
Hyperviscous airway periciliary and mucous liquid layers in cystic fibrosis measured by confocal fluorescence photobleaching
Nico Derichs et al.
FASEB JOURNAL (2011)
Curcumin and genistein additively potentiate G551D-CFTR
Ying-Chun Yu et al.
JOURNAL OF CYSTIC FIBROSIS (2011)
A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation
Bonnie W. Ramsey et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809
Fredrick Van Goor et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Association between socioeconomic status, sex, and age at death from cystic fibrosis in England and Wales (1959 to 2008): cross sectional study
Helen L. Barr et al.
BMJ-BRITISH MEDICAL JOURNAL (2011)
Influence of cell background on pharmacological rescue of mutant CFTR
Nicoletta Pedemonte et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2010)
Ataluren (PTC124) Induces Cystic Fibrosis Transmembrane Conductance Regulator Protein Expression and Activity in Children with Nonsense Mutation Cystic Fibrosis
Isabelle Sermet-Gaudelus et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2010)
A Stabilizing Influence: CAL PDZ Inhibition Extends the Half-Life of Delta F508-CFTR
Patrick R. Cushing et al.
ANGEWANDTE CHEMIE-INTERNATIONAL EDITION (2010)
Modifier genes in Mendelian disorders: the example of cystic fibrosis
Garry R. Cutting
YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS (2010)
Loss of Anion Transport without Increased Sodium Absorption Characterizes Newborn Porcine Cystic Fibrosis Airway Epithelia
Jeng-Haur Chen et al.
CELL (2010)
Reduced histone deacetylase 7 activity restores function to misfolded CFTR in cystic fibrosis
Darren M. Hutt et al.
NATURE CHEMICAL BIOLOGY (2010)
Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTR Mutation
Frank J. Accurso et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Peripheral Protein Quality Control Removes Unfolded CFTR from the Plasma Membrane
Tsukasa Okiyoneda et al.
SCIENCE (2010)
Cooperative Assembly and Misfolding of CFTR Domains In Vivo
Kai Du et al.
MOLECULAR BIOLOGY OF THE CELL (2009)
Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770
Fredrick Van Goor et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Update on gene modifiers in cystic fibrosis
Joseph M. Collaco et al.
CURRENT OPINION IN PULMONARY MEDICINE (2008)
Improvement in clinical markers in CF patients using a reduced glutathione regimen: An uncontrolled, observational study
Alfredo Visca et al.
JOURNAL OF CYSTIC FIBROSIS (2008)
The prevalence of cystic fibrosis in the European Union
Philip M. Farrell
JOURNAL OF CYSTIC FIBROSIS (2008)
PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model
Ming Du et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles
F. R. Faucz et al.
CLINICAL GENETICS (2007)
PTC124 targets genetic disorders caused by nonsense mutations
Ellen M. Welch et al.
NATURE (2007)
G551D and G1349D, two CF-associated mutations in the signature sequences of CFTR, exhibit distinct gating defects
Silvia G. Bompadre et al.
JOURNAL OF GENERAL PHYSIOLOGY (2007)
Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin
Liat Linde et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Mechanisms of disease: Cystic fibrosis
SM Rowe et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
The F508 cystic fibrosis mutation impairs domain-domain interactions and arrests post-translational folding of CFTR
K Du et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2005)
Nanomolar affinity small molecule correctors of defective ΔF508-CFTR chloride channel gating
H Yang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates
MR Silvis et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Functional analysis of the C-terminal boundary of the second nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator and structural implications
M Gentzsch et al.
BIOCHEMICAL JOURNAL (2002)
Structure and association of ATP-binding cassette transporter nucleotide-binding domains
ID Kerr
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2002)
The CF salt controversy: In vivo observations and therapeutic approaches
R Tarran et al.
MOLECULAR CELL (2001)
Disease-associated mutations in the extracytoplasmic loops of cystic fibrosis transmembrane conductance regulator do not impede biosynthetic processing but impair chloride channel stability
MM Hämmerle et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
The association of socioeconomic status with outcomes in cystic fibrosis patients in the United States
MS Schechter et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2001)
Share Paper
