Screening Readthrough Compounds to Suppress Nonsense Mutations: Possible Application to β-Thalassemia

Single-Molecule Imaging Uncovers Rules Governing Nonsense-Mediated mRNA Decay

(2019) Tim A. Hoek et al.   MOLECULAR CELL

Strategies against Nonsense: Oxadiazoles as Translational Readthrough-Inducing Drugs (TRIDs)

(2019) Ambra Campofelice et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Induction of Translational Readthrough across the Thalassemia-Causing Premature Stop Codon in β-Globin-Encoding mRNA

(2019) Debaleena Kar et al.   BIOCHEMISTRY

The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy

(2019) Rik G. H. Lindeboom et al.   NATURE GENETICS

Cellular RNA surveillance in health and disease

(2019) Sandra L. Wolin et al.   SCIENCE

What can we learn from ineffective erythropoiesis in thalassemia?

(2018) Paraskevi Rea Oikonomidou et al.   BLOOD REVIEWS

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

(2018) Maciej Dabrowski et al.   MOLECULAR MEDICINE

Beyond quality control: The role of nonsense-mediated mRNA decay (NMD) in regulating gene expression

(2018) Sofia Nasif et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy

(2018) Perry B. Shieh   Neurotherapeutics

Mechanism and evidence of nonsense suppression therapy for genetic eye disorders

(2017) Rose Richardson et al.   EXPERIMENTAL EYE RESEARCH

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 B1 is a minor gentamicin component with major nonsense mutation suppression activity

(2017) Alireza Baradaran-Heravi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

High-resolution profiling of NMD targets in yeast reveals translational fidelity as a basis for substrate selection

(2017) Alper Celik et al.   RNA

Aminoglycosides, but not PTC124 (Ataluren), rescue nonsense mutations in the leptin receptor and in luciferase reporter genes

(2017) Florian Bolze et al.   Scientific Reports

Control of gene expression through the nonsense-mediated RNA decay pathway

(2017) Andrew Nickless et al.   Cell and Bioscience

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

Hemopoietic stem cell transplantation in thalassemia: a report from the European Society for Blood and Bone Marrow Transplantation Hemoglobinopathy Registry, 2000–2010

(2016) D Baronciani et al.   BONE MARROW TRANSPLANTATION

Leveraging Rules of Nonsense-Mediated mRNA Decay for Genome Engineering and Personalized Medicine

(2016) Maximilian W. Popp et al.   CELL

Exploring the readthrough of nonsense mutations by non-acidic Ataluren analogues selected by ligand-based virtual screening

(2016) Ivana Pibiri et al.   EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY

Translational plasticity facilitates the accumulation of nonsense genetic variants in the human population

(2016) Sujatha Jagannathan et al.   GENOME RESEARCH

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model

(2016) Mariya Moosajee et al.   HUMAN MOLECULAR GENETICS

Nonsense-mediated mRNA decay in humans at a glance

(2016) Tatsuaki Kurosaki et al.   JOURNAL OF CELL SCIENCE

Modulation of nonsense mediated decay by rapamycin

(2016) Rocio T. Martinez-Nunez et al.   NUCLEIC ACIDS RESEARCH

Novel small molecules potentiate premature termination codon readthrough by aminoglycosides

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

Mechanism and regulation of the nonsense-mediated decay pathway

(2016) Nele Hug et al.   NUCLEIC ACIDS RESEARCH

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

The Meaning of NMD: Translate or Perish

(2016) Saverio Brogna et al.   TRENDS IN GENETICS

Design of Novel Aminoglycoside Derivatives with Enhanced Suppression of Diseases-Causing Nonsense Mutations

(2016) Narayana Murthy Sabbavarapu et al.   ACS Medicinal Chemistry Letters

Nonsense-mediated mRNA decay: novel mechanistic insights and biological impact

(2016) Evangelos D. Karousis et al.   Wiley Interdisciplinary Reviews-RNA

Chemical-Induced Read-Through at Premature Termination Codons Determined by a Rapid Dual-Fluorescence System Based on S. cerevisiae

(2016) Emiliano Altamura et al.   PLoS One

Nonsense-Mediated mRNA Decay: Degradation of Defective Transcripts Is Only Part of the Story

(2015) Feng He et al.   Annual Review of Genetics

NMD: At the crossroads between translation termination and ribosome recycling

(2015) Alper Celik et al.   BIOCHIMIE

Nonsense-mediated RNA decay - a switch and dial for regulating gene expression

(2015) Jenna E. Smith et al.   BIOESSAYS

Nonsense suppression therapies in ocular genetic diseases

(2015) Xia Wang et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Mechanism, factors, and physiological role of nonsense-mediated mRNA decay

(2015) Tobias Fatscher et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Enhancement of premature stop codon readthrough in the CFTR gene by Ataluren (PTC124) derivatives

(2015) Ivana Pibiri et al.   EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY

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-mediated mRNA decay: an intricate machinery that shapes transcriptomes

(2015) Søren Lykke-Andersen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

5-azacytidine inhibits nonsense-mediated decay in a MYC-dependent fashion

(2014) M. Bhuvanagiri et al.   EMBO Molecular Medicine

Gene Therapy for Hemoglobinopathies

(2014) Shanmuganathan Chandrakasan et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

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

(2014) Sandra Blanchet 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

Nonsense-mediated mRNA decay — Mechanisms of substrate mRNA recognition and degradation in mammalian cells

(2013) Christoph Schweingruber et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

A Novel Role of Cytosolic Protein Synthesis Inhibition in Aminoglycoside Ototoxicity

(2013) S. P. Francis et al.   JOURNAL OF NEUROSCIENCE

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

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

Nonsense-mediated mRNA decay: Inter-individual variability and human disease

(2013) Lam Son Nguyen et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

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

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

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

Increased Selectivity toward Cytoplasmic versus Mitochondrial Ribosome Confers Improved Efficiency of Synthetic Aminoglycosides in Fixing Damaged Genes: A Strategy for Treatment of Genetic Diseases Caused by Nonsense Mutations

(2012) Jeyakumar Kandasamy et al.   JOURNAL OF MEDICINAL CHEMISTRY

NMD: a multifaceted response to premature translational termination

(2012) Stephanie Kervestin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

Dissociation of antibacterial activity and aminoglycoside ototoxicity in the 4-monosubstituted 2-deoxystreptamine apramycin

(2012) T. Matt et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sense from nonsense: therapies for premature stop codon diseases

(2012) Laure Bidou et al.   TRENDS IN MOLECULAR MEDICINE

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

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

Control of human  -globin mRNA stability and its impact on beta-thalassemia phenotype

(2011) I. Peixeiro et al.   HAEMATOLOGICA

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

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

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

Readthrough of Premature Termination Codons in the Adenomatous Polyposis Coli Gene Restores Its Biological Activity in Human Cancer Cells

(2011) Célia Floquet 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

NMD: RNA biology meets human genetic medicine

(2010) Madhuri Bhuvanagiri et al.   BIOCHEMICAL JOURNAL

Beta-thalassemia

(2010) Antonio Cao et al.   GENETICS IN MEDICINE

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

Beta-thalassemia

(2010) Renzo Galanello et al.   Orphanet Journal of Rare Diseases

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

Development of K562 cell clones expressing β-globin mRNA carrying the β039 thalassaemia mutation for the screening of correctors of stop-codon mutations

(2009) Francesca Salvatori et al.   BIOTECHNOLOGY AND APPLIED BIOCHEMISTRY

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

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

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

Response to hydroxyurea therapy in β-thalassemia

(2008) Ariel Koren et al.   AMERICAN JOURNAL OF HEMATOLOGY

Lysosomal disorders: From storage to cellular damage

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

Hypoxic Inhibition of Nonsense-Mediated RNA Decay Regulates Gene Expression and the Integrated Stress Response

(2008) L. B. Gardner   MOLECULAR AND CELLULAR BIOLOGY

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

The meaning of nonsense

(2008) Lukas Stalder et al.   TRENDS IN CELL BIOLOGY

A Competition between Stimulators and Antagonists of Upf Complex Recruitment Governs Human Nonsense-Mediated mRNA Decay

(2008) Guramrit Singh et al.   PLOS BIOLOGY