Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons

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

(2017) Xiaojiao Xue et al.   HUMAN MOLECULAR GENETICS

Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients

(2017) David T. Woodley et al.   JOURNAL OF CLINICAL INVESTIGATION

Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa

(2017) Velina S. Atanasova et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

(2017) Craig M McDonald et al.   LANCET

In vitro translational readthrough by gentamicin and geneticin improves GLA activity in Fabry disease

(2017) Halil Dündar et al.   MOLECULAR GENETICS AND METABOLISM

Characterization of new-generation aminoglycoside promoting premature termination codon readthrough in cancer cells

(2017) Laure Bidou et al.   RNA Biology

The nucleoside analog clitocine is a potent and efficacious readthrough agent

(2017) Westley J. Friesen et al.   RNA

Discovery of Clinically Approved Agents That Promote Suppression of Cystic Fibrosis Transmembrane Conductance Regulator Nonsense Mutations

(2016) Venkateshwar Mutyam et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs)

(2016) Kerstin Nagel-Wolfrum et al.   BIODRUGS

Novel small molecules potentiate premature termination codon readthrough by aminoglycosides

(2016) Alireza Baradaran-Heravi et al.   NUCLEIC ACIDS RESEARCH

Synthesis and activity of a novel inhibitor of nonsense-mediated mRNA decay

(2016) Victoria J. B. Gotham et al.   ORGANIC & BIOMOLECULAR 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

Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia

(2016) Zuzanna Bukowy-Bieryllo et al.   RNA Biology

Rules of UGA-N decoding by near-cognate tRNAs and analysis of readthrough on short uORFs in yeast

(2016) Petra Beznosková et al.   RNA

NMD: At the crossroads between translation termination and ribosome recycling

(2015) Alper Celik et al.   BIOCHIMIE

A flow cytometry-based reporter assay identifies macrolide antibiotics as nonsense mutation read-through agents

(2015) Michal Caspi et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

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

Translational readthrough potential of natural termination codons in eucaryotes – The impact of RNA sequence

(2015) Maciej Dabrowski et al.   RNA Biology

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases

(2015) Marta Gómez-Grau et al.   PLoS One

Therapeutics Based on Stop Codon Readthrough

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

Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA

(2014) Renata Bordeira-Carriço et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Toward a Rationale for the PTC124 (Ataluren) Promoted Readthrough of Premature Stop Codons: A Computational Approach and GFP-Reporter Cell-Based Assay

(2014) Laura Lentini et al.   MOLECULAR PHARMACEUTICS

Aminoglycosides Restore Full-length Type VII Collagen by Overcoming Premature Termination Codons: Therapeutic Implications for Dystrophic Epidermolysis Bullosa

(2014) Jon Cogan et al.   MOLECULAR THERAPY

Ataluren treatment of patients with nonsense mutation dystrophinopathy

(2014) Katharine Bushby et al.   MUSCLE & NERVE

Nonsense-mediated decay in genetic disease: Friend or foe?

(2014) Jake N. Miller et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Evidence of efficient stop codon readthrough in four mammalian genes

(2014) Gary Loughran et al.   NUCLEIC ACIDS RESEARCH

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

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

Designer Aminoglycosides That Selectively Inhibit Cytoplasmic Rather than Mitochondrial Ribosomes Show Decreased Ototoxicity

(2013) Eli Shulman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Long-term nonsense suppression therapy moderates MPS I-H disease progression

(2013) Gwen Gunn et al.   MOLECULAR GENETICS AND METABOLISM

A New Series of Small Molecular Weight Compounds Induce Read Through of All Three Types of Nonsense Mutations in the ATM Gene

(2013) Liutao Du et al.   MOLECULAR THERAPY

Attenuation of Nonsense-Mediated mRNA Decay Enhances In Vivo Nonsense Suppression

(2013) Kim M. Keeling et al.   PLoS One

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

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

SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models

(2012) Richard A. Gatti   Annals of the New York Academy of Sciences

Structure-Activity Relationships among the Kanamycin Aminoglycosides: Role of Ring I Hydroxyl and Amino Groups

(2012) Sumantha Salian et al.   ANTIMICROBIAL AGENTS AND CHEMOTHERAPY

Bumetanide Hyperpolarizes Madin–Darby Canine Kidney Cells and Enhances Cellular Gentamicin Uptake by Elevating Cytosolic Ca2+ Thus Facilitating Intermediate Conductance Ca2+-Activated Potassium Channels

(2012) Tian Wang et al.   CELL BIOCHEMISTRY AND BIOPHYSICS

Suppression of premature termination codons as a therapeutic approach

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

A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of anUSH1Cnonsense mutation

(2012) Tobias Goldmann et al.   EMBO Molecular Medicine

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

Analysis of a read-through promoting compound in a severe mouse model of spinal muscular atrophy

(2012) Virginia B. Mattis et al.   NEUROSCIENCE LETTERS

Rescue of nonsense mutations by amlexanox in human cells

(2012) Sara Gonzalez-Hilarion et al.   Orphanet Journal of Rare Diseases

Pharmaceutical therapies to recode nonsense mutations in inherited diseases

(2012) Hui-Ling Rose Lee et al.   PHARMACOLOGY & THERAPEUTICS

Endocytic Receptors in the Renal Proximal Tubule

(2012) Erik I. Christensen et al.   PHYSIOLOGY

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

Effective Drug Delivery System for Duchenne Muscular Dystrophy Using Hybrid Liposomes Including Gentamicin along with Reduced Toxicity

(2011) Mamiko Yukihara et al.   BIOLOGICAL & PHARMACEUTICAL BULLETIN

Synthesis and evaluation of compounds that induce readthrough of premature termination codons

(2011) Michael E. Jung et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

Evidence of abundant stop codon readthrough in Drosophila and other metazoa

(2011) I. Jungreis et al.   GENOME RESEARCH

New developments in aminoglycoside therapy and ototoxicity

(2011) Jing Xie et al.   HEARING RESEARCH

Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia

(2011) Kotoka Nakamura et al.   HUMAN MUTATION

TRPA1-Mediated Accumulation of Aminoglycosides in Mouse Cochlear Outer Hair Cells

(2011) Ruben S. Stepanyan et al.   JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY

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

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

Rescue of Melanocortin 4 Receptor (MC4R) Nonsense Mutations by Aminoglycoside-Mediated Read-Through

(2011) Harald Brumm et al.   Obesity

Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations

(2011) Manuela Vecsler et al.   PLoS One

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

Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy

(2010) Vinod Malik et al.   ANNALS OF NEUROLOGY

Repairing faulty genes by aminoglycosides: Development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations

(2010) Igor Nudelman et al.   BIOORGANIC & MEDICINAL CHEMISTRY

Upf1 Senses 3′UTR Length to Potentiate mRNA Decay

(2010) J. Robert Hogg et al.   CELL

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

Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model

(2010) Cornelia Brendel et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

New insights into the mechanism of aminoglycoside nephrotoxicity: an integrative point of view

(2010) Jose M. Lopez-Novoa et al.   KIDNEY INTERNATIONAL

Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides

(2010) Célia Floquet et al.   NUCLEIC ACIDS RESEARCH

The Effect of Gentamicin-Induced Readthrough on a Novel Premature Termination Codon of CD18 Leukocyte Adhesion Deficiency Patients

(2010) Amos J. Simon et al.   PLoS One

Production of β-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous β039 thalassemia patients

(2009) Francesca Salvatori et al.   AMERICAN JOURNAL OF HEMATOLOGY

Cubilin and Megalin Co-Localize in the Neonatal Inner Ear

(2009) Jacob Tauris et al.   AUDIOLOGY AND NEURO-OTOLOGY

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

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

Restoration of APC gene function in colorectal cancer cells by aminoglycoside- and macrolide-induced read-through of premature termination codons

(2009) A. Zilberberg et al.   GUT

Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations

(2009) Yan Yao et al.   HEART RHYTHM

Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model

(2009) Virginia B. Mattis et al.   HUMAN MOLECULAR GENETICS

Poly-l-aspartic Acid Enhances and Prolongs Gentamicin-mediated Suppression of theCFTR-G542X Mutation in a Cystic Fibrosis Mouse Model

(2009) Ming Du et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nonaminoglycoside compounds induce readthrough of nonsense mutations

(2009) Liutao Du et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

Recognition of nonsense mRNA: towards a unified model: Figure 1

(2008) Oliver Mühlemann   BIOCHEMICAL SOCIETY TRANSACTIONS

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

Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa

(2008) K. Guerin et al.   EXPERIMENTAL EYE RESEARCH

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION

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

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

Drug-induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes

(2007) Valérie Allamand et al.   JOURNAL OF GENE MEDICINE