Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences

Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation

(2017) Venkateshwar Mutyam et al.   Journal of Cystic Fibrosis

Low free drug concentration prevents inhibition of F508del CFTR functional expression by the potentiator VX-770 (ivacaftor)

(2016) Elizabeth Matthes et al.   BRITISH JOURNAL OF PHARMACOLOGY

Decoding Mammalian Ribosome-mRNA States by Translational GTPase Complexes

(2016) Sichen Shao et al.   CELL

Beyond the Triplet Code: Context Cues Transform Translation

(2016) Gloria A. Brar   CELL

Correctors and Potentiators Rescue Function of the Truncated W1282X-Cystic Fibrosis Transmembrane Regulator (CFTR) Translation Product

(2016) Peter M. Haggie et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression

(2016) Bijoyita Roy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

New Structural Insights into Translational Miscoding

(2016) Alexey Rozov et al.   TRENDS IN BIOCHEMICAL SCIENCES

Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR

(2015) Claire E. Wainwright et al.   NEW ENGLAND JOURNAL OF MEDICINE

Structure of a human translation termination complex

(2015) Sarah Matheisl et al.   NUCLEIC ACIDS RESEARCH

Accuracy of initial codon selection by aminoacyl-tRNAs on the mRNA-programmed bacterial ribosome

(2015) Jingji Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nonsense suppression by near-cognate tRNAs employs alternative base pairing at codon positions 1 and 3

(2015) Bijoyita Roy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Therapeutics Based on Stop Codon Readthrough

(2014) Kim M. Keeling et al.   Annual Review of Genomics and Human Genetics

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

New insights into the incorporation of natural suppressor tRNAs at stop codons in Saccharomyces cerevisiae

(2014) Sandra Blanchet et al.   NUCLEIC ACIDS RESEARCH

Synthetic Aminoglycosides Efficiently Suppress Cystic Fibrosis Transmembrane Conductance Regulator Nonsense Mutations and Are Enhanced by Ivacaftor

(2013) Xiaojiao Xue et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Unusual base pairing during the decoding of a stop codon by the ribosome

(2013) Israel S. Fernández et al.   NATURE

Vx-770 potentiates CFTR function by promoting decoupling between the gating cycle and ATP hydrolysis cycle

(2013) Kang-Yang Jih et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2012) Juan L. Mendoza et al.   CELL

Suppression of premature termination codons as a therapeutic approach

(2012) Kim M. Keeling et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Potentiator VX-770 (Ivacaftor) Opens the Defective Channel Gate of Mutant CFTR in a Phosphorylation-dependent but ATP-independent Manner

(2012) Paul D. W. Eckford et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Suppression of CFTR premature termination codons and rescue of CFTR protein and function by the synthetic aminoglycoside NB54

(2011) Steven M. Rowe et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

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

Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTRMutation

(2010) Frank J. Accurso et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION

PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model

(2008) M. Du et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Modulating the activity of the peptidyl transferase center of the ribosome

(2008) M. Beringer   RNA