Ataluren as an Agent for Therapeutic Nonsense Suppression

Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel

(2012) Stephen C. Harmer et al.   BIOCHEMICAL JOURNAL

Testing the faux-UTR model for NMD: Analysis of Upf1p and Pab1p competition for binding to eRF3/Sup35p

(2012) Stephanie Kervestin et al.   BIOCHIMIE

The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking

(2012) Susan L Cotman et al.   Clinical Lipidology

Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy

(2012) Refik Kayali et al.   HUMAN MOLECULAR GENETICS

Structural basis of highly conserved ribosome recycling in eukaryotes and archaea

(2012) Thomas Becker et al.   NATURE

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

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

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

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

Molecular Mechanisms for the RNA-Dependent ATPase Activity of Upf1 and Its Regulation by Upf2

(2011) Sutapa Chakrabarti et al.   MOLECULAR CELL

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

The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse

(2011) Dan Wang et al.   MOLECULAR GENETICS AND METABOLISM

Interaction of PABPC1 with the translation initiation complex is critical to the NMD resistance of AUG-proximal nonsense mutations

(2011) I. Peixeiro et al.   NUCLEIC ACIDS RESEARCH

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

Six-Minute-Walk Test in Idiopathic Pulmonary Fibrosis

(2010) Roland M. du Bois et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Upf1 ATPase-Dependent mRNP Disassembly Is Required for Completion of Nonsense- Mediated mRNA Decay

(2010) Tobias M. Franks et al.   CELL

Splicing-dependent NMD does not require the EJC in Schizosaccharomyces pombe

(2010) Jikai Wen et al.   EMBO JOURNAL

Nonsense-mediated mRNA decay maintains translational fidelity by limiting magnesium uptake

(2010) M. J. O. Johansson et al.   GENES & DEVELOPMENT

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

Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations

(2010) Patricia K. Dranchak et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

P3.51 Results of a Phase 2b, dose-ranging study of ataluren (PTC124®) in nonsense mutation Duchenne/Becker muscular dystrophy (nmDBMD)

(2010) R. Finkel et al.   NEUROMUSCULAR DISORDERS

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

(2010) Elena Mazzone et al.   NEUROMUSCULAR DISORDERS

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

(2010) Ans T. van der Ploeg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Translational competence of ribosomes released from a premature termination codon is modulated by NMD factors

(2010) S. Ghosh et al.   RNA

In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome

(2009) Samuel Bellais et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decay

(2009) A. Yamashita et al.   GENES & DEVELOPMENT

Development of Novel Aminoglycoside (NB54) with Reduced Toxicity and Enhanced Suppression of Disease-Causing Premature Stop Mutations

(2009) Igor Nudelman et al.   JOURNAL OF MEDICINAL CHEMISTRY

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

(2009) Katharine Bushby et al.   LANCET NEUROLOGY

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

Small changes in six-minute walk distance are important in diffuse parenchymal lung disease

(2009) Anne E. Holland et al.   RESPIRATORY MEDICINE

Peptide Release on the Ribosome: Mechanism and Implications for Translational Control

(2008) Elaine M. Youngman et al.   Annual Review of Microbiology

Lysosomal disorders: From storage to cellular damage

(2008) Andrea Ballabio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways

(2008) Pavel V Ivanov et al.   EMBO JOURNAL

Interpretation of treatment changes in 6-minute walk distance in patients with COPD

(2008) M. A. Puhan et al.   EUROPEAN RESPIRATORY JOURNAL

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION

Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

(2008) Philip M. Farrell et al.   JOURNAL OF PEDIATRICS

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

(2008) Eitan Kerem et al.   LANCET

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