The silent codon change I507-ATC→ATT contributes to the severity of the ΔF508 CFTR channel dysfunction

Influenza matrix protein 2 alters CFTR expression and function through its ion channel activity

(2013) James D. Londino et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

CFTR mutations altering CFTR fragmentation

(2012) Kendra Tosoni et al.   BIOCHEMICAL JOURNAL

Thermal Instability of ΔF508 Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Channel Function: Protection by Single Suppressor Mutations and Inhibiting Channel Activity

(2012) Xuehong Liu et al.   BIOCHEMISTRY

Allosteric Modulation Balances Thermodynamic Stability and Restores Function of ΔF508 CFTR

(2012) Andrei A. Aleksandrov et al.   JOURNAL OF MOLECULAR BIOLOGY

Enhancement of alveolar epithelial sodium channel activity with decreased cystic fibrosis transmembrane conductance regulator expression in mouse lung

(2011) Ahmed Lazrak et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Regulation of Alveolar Epithelial Na+Channels by ERK1/2 in Chlorine-Breathing Mice

(2011) Ahmed Lazrak et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Dab2 is a key regulator of endocytosis and post-endocytic trafficking of the cystic fibrosis transmembrane conductance regulator

(2011) Lianwu Fu et al.   BIOCHEMICAL JOURNAL

Benzbromarone Stabilizes ΔF508 CFTR at the Cell Surface

(2011) Tip W. Loo et al.   BIOCHEMISTRY

A Unified View of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gating: Combining the Allosterism of a Ligand-gated Channel with the Enzymatic Activity of an ATP-binding Cassette (ABC) Transporter

(2011) Kevin L. Kirk et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Thermally Unstable Gating of the Most Common Cystic Fibrosis Mutant Channel (ΔF508)

(2011) Wei Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Unfolded Protein Response (UPR)-activated Transcription Factor X-box-binding Protein 1 (XBP1) Induces MicroRNA-346 Expression That Targets the Human Antigen Peptide Transporter 1 (TAP1) mRNA and Governs Immune Regulatory Genes

(2011) Rafal Bartoszewski et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The most common cystic fibrosis-associated mutation destabilizes the dimeric state of the nucleotide-binding domains of CFTR

(2011) Kang-Yang Jih et al.   JOURNAL OF PHYSIOLOGY-LONDON

Understanding the contribution of synonymous mutations to human disease

(2011) Zuben E. Sauna et al.   NATURE REVIEWS GENETICS

Disruptive mRNA folding increases translational efficiency of catechol-O-methyltransferase variant

(2011) Douglas Tsao et al.   NUCLEIC ACIDS RESEARCH

SNPs in ADAMTS13

(2011) Sandra Chang Tseng et al.   PHARMACOGENOMICS

Structural Mechanism of S-Adenosyl Methionine Binding to Catechol O-Methyltransferase

(2011) Douglas Tsao et al.   PLoS One

Human-mouse cystic fibrosis transmembrane conductance regulator (CFTR) chimeras identify regions that partially rescue CFTR- F508 processing and alter its gating defect

(2011) Q. Dong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CFTR: folding, misfolding and correcting the ΔF508 conformational defect

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

Ubiquitin C-terminal Hydrolase-L1 Protects Cystic Fibrosis Transmembrane Conductance Regulator from Early Stages of Proteasomal Degradation

(2010) Mark J. Henderson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Synonymous Single Nucleotide Polymorphism in ΔF508CFTRAlters the Secondary Structure of the mRNA and the Expression of the Mutant Protein

(2010) Rafal A. Bartoszewski et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Cystic Fibrosis-causing Mutation ΔF508 Affects Multiple Steps in Cystic Fibrosis Transmembrane Conductance Regulator Biogenesis

(2010) Patrick H. Thibodeau et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Synonymous but not the same: the causes and consequences of codon bias

(2010) Joshua B. Plotkin et al.   NATURE REVIEWS GENETICS

Role of the ubiquitin system in regulating ion transport

(2010) Daniela Rotin et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Forces that influence the evolution of codon bias

(2010) P. M. Sharp et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Non-Synonymous and Synonymous Coding SNPs Show Similar Likelihood and Effect Size of Human Disease Association

(2010) Rong Chen et al.   PLoS One

Peripheral Protein Quality Control Removes Unfolded CFTR from the Plasma Membrane

(2010) T. Okiyoneda et al.   SCIENCE

Functional Stability of Rescued ΔF508 Cystic Fibrosis Transmembrane Conductance Regulator in Airway Epithelial Cells

(2009) Asta Jurkuvenaite et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Substrate-specific mediators of ER associated degradation (ERAD)

(2009) Jeffrey L Brodsky et al.   CURRENT OPINION IN CELL BIOLOGY

Influenza virus M2 protein inhibits epithelial sodium channels by increasing reactive oxygen species

(2009) Ahmed Lazrak et al.   FASEB JOURNAL

Low Enzymatic Activity Haplotypes of the Human Catechol-O-Methyltransferase Gene: Enrichment for Marker SNPs

(2009) Andrea G. Nackley et al.   PLoS One

Enhanced cell-surface stability of rescued ΔF508 cystic fibrosis transmembrane conductance regulator (CFTR) by pharmacological chaperones

(2008) Karoly Varga et al.   BIOCHEMICAL JOURNAL

The Mechanism of Cystic Fibrosis Transmembrane Conductance Regulator Transcriptional Repression during the Unfolded Protein Response

(2008) Rafal Bartoszewski et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Synonymous Mutations and Ribosome Stalling Can Lead to Altered Folding Pathways and Distinct Minima

(2008) Chung-Jung Tsai et al.   JOURNAL OF MOLECULAR BIOLOGY

Gp78 Cooperates with RMA1 in Endoplasmic Reticulum-associated Degradation of CFTRΔF508

(2008) Daisuke Morito et al.   MOLECULAR BIOLOGY OF THE CELL