Comprehensive mapping of cystic fibrosis mutations to CFTR protein identifies mutation clusters and molecular docking predicts corrector binding site

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

(2016) Onofrio Laselva et al.   BIOCHEMICAL PHARMACOLOGY

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

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

“Cystic fibrotics could survive cholera, choleraics could survive cystic fibrosis”; hypothesis that explores new horizons in treatment of cystic fibrosis

(2015) Arsalan Azimi   MEDICAL HYPOTHESES

Sphingosine-1-Phosphate Is a Novel Regulator of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Activity

(2015) Firhan A. Malik et al.   PLoS One

Insights into Disease-Associated Mutations in the Human Proteome through Protein Structural Analysis

(2015) Mu Gao et al.   STRUCTURE

Full-open and closed CFTR channels, with lateral tunnels from the cytoplasm and an alternative position of the F508 region, as revealed by molecular dynamics

(2014) Jean-Paul Mornon et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

VX-809 and Related Corrector Compounds Exhibit Secondary Activity Stabilizing Active F508del-CFTR after Its Partial Rescue to the Cell Surface

(2014) Paul D.W. Eckford et al.   CHEMISTRY & BIOLOGY

Genetic, cell biological and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention

(2014) Steven V. Molinski et al.   GENETICS IN MEDICINE

The major cystic fibrosis causing mutation exhibits defective propensity for phosphorylation

(2014) Stan Pasyk et al.   PROTEOMICS

Corrector VX-809 stabilizes the first transmembrane domain of CFTR

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

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

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

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

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

Identification and Validation of Hits from High Throughput Screens for CFTR Modulators

(2012) Stan Pasyk et al.   CURRENT PHARMACEUTICAL DESIGN

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

(2012) Lihua He et al.   FASEB JOURNAL

ABCMdb: A database for the comparative analysis of protein mutations in ABC transporters, and a potential framework for a general application

(2012) Gergely Gyimesi et al.   HUMAN MUTATION

The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

(2011) Mark F. Rosenberg et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hypothesis: Cystic fibrosis carrier geography reflects interactions of tuberculosis and hypertension with vitamin D deficiency, altitude and temperature. Vitamin D deficiency effects and cf carrier advantage

(2011) Mark Lubinsky   Journal of Cystic Fibrosis

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

Clustering of disease-causing mutations on the domain–domain interfaces of ABCC6

(2009) Krisztina Fülöp et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Molecular models of the open and closed states of the whole human CFTR protein

(2009) Jean-Paul Mornon et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

CFTR Function and Prospects for Therapy

(2008) John R. Riordan   Annual Review of Biochemistry