Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations

Comparative ex vivo , in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations

(2016) Anabela S. Ramalho et al.   Journal of Cystic Fibrosis

Automated Structure- and Sequence-Based Design of Proteins for High Bacterial Expression and Stability

(2016) Adi Goldenzweig et al.   MOLECULAR CELL

MAESTRO - multi agent stability prediction upon point mutations

(2015) Josef Laimer et al.   BMC BIOINFORMATICS

Deletion of Phenylalanine 508 in the First Nucleotide-binding Domain of the Cystic Fibrosis Transmembrane Conductance Regulator Increases Conformational Exchange and Inhibits Dimerization

(2015) P. Andrew Chong et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Combined Covalent-Electrostatic Model of Hydrogen Bonding Improves Structure Prediction with Rosetta

(2015) Matthew J. O’Meara et al.   Journal of Chemical Theory and Computation

Restoration of NBD1 Thermal Stability Is Necessary and Sufficient to Correct ∆F508 CFTR Folding and Assembly

(2015) Lihua He et al.   JOURNAL OF MOLECULAR 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

Origin and evolution of the cystic fibrosis transmembrane regulator protein R domain

(2013) Aswathy Sebastian et al.   GENE

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

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

(2013) Patrick R Sosnay et al.   NATURE GENETICS

Database resources of the National Center for Biotechnology Information

(2013)   NUCLEIC ACIDS RESEARCH

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

New Model of Cystic Fibrosis Transmembrane Conductance Regulator Proposes Active Channel-like Conformation

(2012) James Dalton et al.   Journal of Chemical Information and Modeling

Ivacaftor potentiation of multiple CFTR channels with gating mutations

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

Phosphorylation-dependent 14-3-3 protein interactions regulate CFTR biogenesis

(2012) Xiubin Liang et al.   MOLECULAR BIOLOGY OF THE CELL

Protein stability: a single recorded mutation aids in predicting the effects of other mutations in the same amino acid site

(2011) Gilad Wainreb et al.   BIOINFORMATICS

Search and clustering orders of magnitude faster than BLAST

(2010) Robert C. Edgar   BIOINFORMATICS

Predicting changes in protein thermostability brought about by single- or multi-site mutations

(2010) Jian Tian et al.   BMC BIOINFORMATICS

Restoration of domain folding and interdomain assembly by second-site suppressors of the ΔF508 mutation in CFTR

(2010) Lihua He et al.   FASEB JOURNAL

Folding and Rescue of a Cystic Fibrosis Transmembrane Conductance Regulator Trafficking Mutant Identified Using Human-Murine Chimeric Proteins

(2010) Ana Carina Da Paula et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regulatory Insertion Removal Restores Maturation, Stability and Function of ΔF508 CFTR

(2010) Andrei A. Aleksandrov et al.   JOURNAL OF MOLECULAR BIOLOGY

Consensus Protein Design without Phylogenetic Bias

(2010) Christian Jäckel et al.   JOURNAL OF MOLECULAR BIOLOGY

Thermal unfolding studies show the disease causing F508del mutation in CFTR thermodynamically destabilizes nucleotide-binding domain 1

(2010) Irina Protasevich et al.   PROTEIN SCIENCE

Integrated biophysical studies implicate partial unfolding of NBD1 of CFTR in the molecular pathogenesis of F508del cystic fibrosis

(2010) Chi Wang et al.   PROTEIN SCIENCE

Role of conformational sampling in computing mutation-induced changes in protein structure and stability

(2010) Elizabeth H. Kellogg et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

The evolution and evolutionary consequences of marginal thermostability in proteins

(2010) Richard A. Goldstein   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0

(2009) Yves Dehouck et al.   BIOINFORMATICS

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

Relationship between nucleotide binding and ion channel gating in cystic fibrosis transmembrane conductance regulator

(2009) Andrei A. Aleksandrov et al.   JOURNAL OF PHYSIOLOGY-LONDON

Cooperative Assembly and Misfolding of CFTR Domains In Vivo

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

Inferring Stabilizing Mutations from Protein Phylogenies: Application to Influenza Hemagglutinin

(2009) Jesse D. Bloom et al.   PLoS Computational Biology

Multiple Membrane-Cytoplasmic Domain Contacts in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mediate Regulation of Channel Gating

(2008) Lihua He et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Assembly and Misassembly of Cystic Fibrosis Transmembrane Conductance Regulator: Folding Defects Caused by Deletion of F508 Occur Before and After the Calnexin-dependent Association of Membrane Spanning Domain (MSD) 1 and MSD2

(2008) Meredith F. N. Rosser et al.   MOLECULAR BIOLOGY OF THE CELL

Evolutionary and functional divergence between the cystic fibrosis transmembrane conductance regulator and related ATP-binding cassette transporters

(2008) I. King Jordan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA