Readthrough compounds for nonsense mutations: bridging the translational gap

Use of 2,6-diaminopurine as a potent suppressor of UGA premature stop codons in cystic fibrosis

(2023) Catherine Leroy et al.   MOLECULAR THERAPY

Nonsense-Mediated mRNA Decay, a Finely Regulated Mechanism

(2022) Fabrice Lejeune   Biomedicines

Application of Bayesian methods to accelerate rare disease drug development: scopes and hurdles

(2022) Kelley M. Kidwell et al.   Orphanet Journal of Rare Diseases

CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway

(2022) Edward J. Sanderlin et al.   Nature Communications

Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants

(2022) Daniel Mosallaei et al.   JAMA Dermatology

Efficient suppression of endogenous CFTR nonsense mutations using anticodon-engineered transfer RNAs

(2022) Wooree Ko et al.   Molecular Therapy-Nucleic Acids

The broader sense of nonsense

(2022) Evangelos D. Karousis et al.   TRENDS IN BIOCHEMICAL SCIENCES

Measuring cystic fibrosis drug responses in organoids derived from 2D differentiated nasal epithelia

(2022) Gimano D Amatngalim et al.   Life Science Alliance

Nonsense codons suppression. An acute toxicity study of three optimized TRIDs in murine model, safety and tolerability evaluation

(2022) Federica Corrao et al.   BIOMEDICINE & PHARMACOTHERAPY

A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons

(2021) Sandra Luna et al.   HUMAN MUTATION

Targeting G542X CFTR nonsense alleles with ELX-02 restores CFTR function in human-derived intestinal organoids

(2021) Daniel K. Crawford et al.   Journal of Cystic Fibrosis

Ataluren for drug‐resistant epilepsy in nonsense variant‐mediated Dravet syndrome and CDKL5 deficiency disorder

(2021) Orrin Devinsky et al.   Annals of Clinical and Translational Neurology

Effect of small molecule eRF3 degraders on premature termination codon readthrough

(2021) Alireza Baradaran-Heravi et al.   NUCLEIC ACIDS RESEARCH

Small molecule Y-320 stimulates ribosome biogenesis, protein synthesis, and aminoglycoside-induced premature termination codon readthrough

(2021) Sara Hosseini-Farahabadi et al.   PLOS BIOLOGY

Reducing the Toxicity of Designer Aminoglycosides as Nonsense Mutation Readthrough Agents for Therapeutic Targets

(2021) Michael Popadynec et al.   ACS Medicinal Chemistry Letters

A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion

(2021) Jyoti Sharma et al.   Nature Communications

Evaluating CRISPR-based prime editing for cancer modeling and CFTR repair in organoids

(2021) Maarten H Geurts et al.   Life Science Alliance

Functional Restoration of CFTR Nonsense Mutations in Intestinal Organoids

(2021) E. de Poel et al.   Journal of Cystic Fibrosis

Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients

(2021) Craig M McDonald et al.   Journal of Comparative Effectiveness Research

CRISPR-Based Adenine Editors Correct Nonsense Mutations in a Cystic Fibrosis Organoid Biobank

(2020) Maarten H. Geurts et al.   Cell Stem Cell

Amplifiers co-translationally enhance CFTR biosynthesis via PCBP1-mediated regulation of CFTR mRNA

(2020) Danijela Dukovski et al.   Journal of Cystic Fibrosis

Efficacy and safety of ataluren in patients with nonsense-mutation cystic fibrosis not receiving chronic inhaled aminoglycosides: The international, randomized, double-blind, placebo-controlled Ataluren Confirmatory Trial in Cystic Fibrosis (ACT CF)

(2020) M.W. Konstan et al.   Journal of Cystic Fibrosis

Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study

(2020) Eugenio Mercuri et al.   Journal of Comparative Effectiveness Research

ELX-02 generates protein via premature stop codon read-through without inducing native stop codon read-through proteins

(2020) Daniel Crawford et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Ataluren/ivacaftor combination therapy: Two N-of-1 trials in cystic fibrosis patients with nonsense mutations

(2020) Jacelyn E. Peabody Lever et al.   PEDIATRIC PULMONOLOGY

2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations

(2020) Carole Trzaska et al.   Nature Communications

Deciphering the molecular mechanism of stop codon readthrough

(2020) Martine Palma et al.   BIOLOGICAL REVIEWS

Targeting Nonsense: Optimization of 1,2,4-Oxadiazole TRIDs to Rescue CFTR Expression and Functionality in Cystic Fibrosis Cell Model Systems

(2020) Ivana Pibiri et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Synergy between Readthrough and Nonsense Mediated Decay Inhibition in a Murine Model of Cystic Fibrosis Nonsense Mutations

(2020) Daniel R. McHugh et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

To NMD or Not To NMD: Nonsense-Mediated mRNA Decay in Cancer and Other Genetic Diseases

(2020) Fran Supek et al.   TRENDS IN GENETICS

Animal and Cell Culture Models for Cystic Fibrosis

(2020) Alexandra McCarron et al.   AMERICAN JOURNAL OF PATHOLOGY

Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis

(2019) Gitte Berkers et al.   Cell Reports

Engineered transfer RNAs for suppression of premature termination codons

(2019) John D. Lueck et al.   Nature Communications

Deciphering the Nonsense Readthrough Mechanism of Action of Ataluren: An in Silico Compared Study

(2019) Marco Tutone et al.   ACS Medicinal Chemistry Letters

Absence of full-length dystrophin impairs normal maturation and contraction of cardiomyocytes derived from human-induced pluripotent stem cells

(2019) J Manuel Pioner et al.   CARDIOVASCULAR RESEARCH

The antimalarial drug mefloquine enhances TP53 premature termination codon readthrough by aminoglycoside G418

(2019) Michael W. Ferguson et al.   PLoS One

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

(2019) Stéphanie Nguengang Wakap et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Functional rescue of c.3846G>A (W1282X) in patient-derived nasal cultures achieved by inhibition of nonsense mediated decay and protein modulators with complementary mechanisms of action

(2019) Onofrio Laselva et al.   Journal of Cystic Fibrosis

A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies

(2018) Daniel R. McHugh et al.   PLoS One

Chemistry-driven Hit-to-lead Optimization Guided by Structure-based Approaches

(2018) Laurent Hoffer et al.   Molecular Informatics

VX-445–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles

(2018) Dominic Keating et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

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

Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases

(2017) Hana Benhabiles et al.   PLoS One

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-Throughput Screening for Readthrough Modulators of CFTR PTC Mutations

(2017) Feng Liang et al.   SLAS Technology

Alternative designs for clinical trials in rare diseases

(2016) Lusine Abrahamyan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

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

Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids

(2016) D.D. Zomer-van Ommen et al.   Journal of Cystic Fibrosis

PABP enhances release factor recruitment and stop codon recognition during translation termination

(2016) Alexandr Ivanov 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

Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis

(2016) Johanna F. Dekkers et al.   Science Translational Medicine

Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy

(2015) J. W. McGreevy et al.   Disease Models & Mechanisms

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

Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis

(2015) Nikhil T. Awatade et al.   EBioMedicine

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

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

Ataluren treatment of patients with nonsense mutation dystrophinopathy

(2014) Katharine Bushby et al.   MUSCLE & NERVE

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

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

A functional CFTR assay using primary cystic fibrosis intestinal organoids

(2013) Johanna F Dekkers et al.   NATURE MEDICINE

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

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

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

Rescue of nonsense mutations by amlexanox in human cells

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

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

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

(2011) Harald Brumm et al.   Obesity

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

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

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

Interaction of Aminoglycosides with Human Mitochondrial 12S rRNA Carrying the Deafness-Associated Mutation

(2009) Y. Qian et al.   ANTIMICROBIAL AGENTS AND CHEMOTHERAPY

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

Azacitidine Prolongs Overall Survival Compared With Conventional Care Regimens in Elderly Patients With Low Bone Marrow Blast Count Acute Myeloid Leukemia

(2009) Pierre Fenaux et al.   JOURNAL OF CLINICAL ONCOLOGY

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

A homogeneous cell-based bicistronic fluorescence assay for high-throughput identification of drugs that perturb viral gene recoding and read-through of nonsense stop codons

(2009) T. S. Cardno et al.   RNA

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

Disruption of the CFTR Gene Produces a Model of Cystic Fibrosis in Newborn Pigs

(2008) C. S. Rogers et al.   SCIENCE

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