ELX-02: an investigational read-through agent for the treatment of nonsense mutation-related genetic disease

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

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

Correlating CFTR Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis

(2019) Allison F McCague et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis

(2019) Emma J. Brasell et al.   PLoS One

Roadblocks and resolutions in eukaryotic translation

(2018) Anthony P. Schuller et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

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

(2017) Laure Bidou et al.   RNA Biology

Towards the Prevention of Aminoglycoside-Related Hearing Loss

(2017) Mary E. O’Sullivan et al.   Frontiers in Cellular Neuroscience

Cystinosis: a review

(2016) Mohamed A. Elmonem et al.   Orphanet Journal of Rare Diseases

NMD: At the crossroads between translation termination and ribosome recycling

(2015) Alper Celik et al.   BIOCHIMIE

Origins of Cystic Fibrosis Lung Disease

(2015)   NEW ENGLAND JOURNAL OF MEDICINE

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

(2015) Maciej Dabrowski et al.   RNA Biology

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

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

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

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

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

(2011) Albane Brodin-Sartorius et al.   KIDNEY INTERNATIONAL

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

Aminoglycoside use in cystic fibrosis: therapeutic strategies and toxicity

(2010) Andrew Prayle et al.   CURRENT OPINION IN PULMONARY MEDICINE

Pass the bicarb: the importance of HCO3– for mucin release

(2009) Robert C. De Lisle   JOURNAL OF CLINICAL INVESTIGATION

Infection Control in Cystic Fibrosis: Cohorting, Cross-Contamination, and the Respiratory Therapist

(2009) Catherine A O'Malley   Respiratory Care

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