Therapeutic suppression of premature termination codons: Mechanisms and clinical considerations (Review)

Therapeutics Based on Stop Codon Readthrough

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

Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial

(2014) Eitan Kerem et al.   Lancet Respiratory Medicine

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

(2013) Israel S. Fernández et al.   NATURE

The contribution of pseudouridine to stabilities and structure of RNAs

(2013) Elzbieta Kierzek et al.   NUCLEIC ACIDS RESEARCH

Two-step model of stop codon recognition by eukaryotic release factor eRF1

(2013) Polina Kryuchkova et al.   NUCLEIC ACIDS RESEARCH

Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

(2013) Richard S. Finkel et al.   PLoS One

Crystal Structure of the 70S Ribosome Bound with the Q253P Mutant Form of Release Factor RF2

(2013) Natalia Santos et al.   STRUCTURE

A Lack of Premature Termination Codon Read-Through Efficacy of PTC124 (Ataluren) in a Diverse Array of Reporter Assays

(2013) Stuart P. McElroy et al.   PLOS BIOLOGY

Ataluren as an Agent for Therapeutic Nonsense Suppression

(2012) Stuart W. Peltz et al.   Annual Review of Medicine

Identification of eRF1 residues that play critical and complementary roles in stop codon recognition

(2012) S. E. Conard et al.   RNA

The Elongation, Termination, and Recycling Phases of Translation in Eukaryotes

(2012) T. E. Dever et al.   Cold Spring Harbor Perspectives in Biology

Statistical Analysis of Readthrough Levels for Nonsense Mutations in Mammalian Cells Reveals a Major Determinant of Response to Gentamicin

(2012) Célia Floquet et al.   PLoS Genetics

Nucleic Acid Recognition by the Innate Immune System

(2011) Roman Barbalat et al.   Annual Review of Immunology

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

(2011) M. Wilschanski et al.   EUROPEAN RESPIRATORY JOURNAL

PTC124-Mediated Translational Readthrough of a Nonsense Mutation Causing Usher Syndrome Type 1C

(2011) T. Goldmann et al.   HUMAN GENE THERAPY

Current use of aminoglycosides: indications, pharmacokinetics and monitoring for toxicity

(2011) M. L. Avent et al.   INTERNAL MEDICINE JOURNAL

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation

(2011) Lu Tan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients

(2011) Chinmoy Sarkar et al.   MOLECULAR GENETICS AND METABOLISM

Converting nonsense codons into sense codons by targeted pseudouridylation

(2011) John Karijolich et al.   NATURE

Ataluren (PTC124) Induces Cystic Fibrosis Transmembrane Conductance Regulator Protein Expression and Activity in Children with Nonsense Mutation Cystic Fibrosis

(2010) Isabelle Sermet-Gaudelus et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

NMR solution structure and function of the C-terminal domain of eukaryotic class 1 polypeptide chain release factor

(2010) Alexey B. Mantsyzov et al.   FEBS Journal

Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression

(2010) Bingjing Wang et al.   JOURNAL OF APPLIED PHYSIOLOGY

Decoding accuracy in eRF1 mutants and its correlation with pleiotropic quantitative traits in yeast

(2010) G. H. Merritt et al.   NUCLEIC ACIDS RESEARCH

Molecular basis for the high-affinity binding and stabilization of firefly luciferase by PTC124

(2010) D. S. Auld et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Spliceosomal snRNA modifications and their function

(2010) John Karijolich et al.   RNA Biology

Structural insights into eRF3 and stop codon recognition by eRF1

(2009) Z. Cheng et al.   GENES & DEVELOPMENT

Nonsense suppression activity of PTC124 (ataluren)

(2009) S. W. Peltz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression

(2009) D. S. Auld 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

Distinct eRF3 Requirements Suggest Alternate eRF1 Conformations Mediate Peptide Release during Eukaryotic Translation Termination

(2008) Hua Fan-Minogue et al.   MOLECULAR CELL

Structural basis for translation termination on the 70S ribosome

(2008) Martin Laurberg et al.   NATURE

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

Genetic analysis of interactions with eukaryotic rRNA identify the mitoribosome as target in aminoglycoside ototoxicity

(2008) S. N. Hobbie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Insights into Translational Termination from the Structure of RF2 Bound to the Ribosome

(2008) A. Weixlbaumer et al.   SCIENCE

Aminoglycoside induced ototoxicity

(2008) O’neil W. Guthrie   TOXICOLOGY