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

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

(2016) Kerstin Nagel-Wolfrum et al.   BIODRUGS

Diagnostic Methods in Primary Ciliary Dyskinesia

(2016) Jane S. Lucas et al.   Paediatric Respiratory Reviews

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

(2016) Petra Beznosková et al.   RNA

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

Recent advances in primary ciliary dyskinesia genetics

(2014) Małgorzata Kurkowiak et al.   JOURNAL OF MEDICAL GENETICS

Ataluren treatment of patients with nonsense mutation dystrophinopathy

(2014) Katharine Bushby et al.   MUSCLE & NERVE

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

In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria

(2013) Gladys Ho et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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 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

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia

(2012) Rocío Sánchez-Alcudia et al.   HUMAN MUTATION

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

Pharmaceutical therapies to recode nonsense mutations in inherited diseases

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

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

Evidence of abundant stop codon readthrough in Drosophila and other metazoa

(2011) I. Jungreis et al.   GENOME RESEARCH

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

(2011) Harald Brumm et al.   Obesity

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

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

Factors influencing age at diagnosis of primary ciliary dyskinesia in European children

(2010) C. E. Kuehni et al.   EUROPEAN RESPIRATORY JOURNAL

In vitro culturing of ciliary respiratory cells—a model for studies of genetic diseases

(2010) Zuzanna Bukowy et al.   JOURNAL OF APPLIED GENETICS

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

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

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

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

Suppression of Nonsense Mutations in Rett Syndrome by Aminoglycoside Antibiotics

(2009) Cornelia Brendel et al.   PEDIATRIC RESEARCH

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

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION