NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough

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

A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport’s syndrome

(2020) Oliver Gross et al.   KIDNEY INTERNATIONAL

Stop codon context influences genome-wide stimulation of termination codon readthrough by aminoglycosides

(2020) Jamie R Wangen et al.   eLife

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

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

(2020) Carole Trzaska et al.   Nature Communications

Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5

(2020) Tomohiko Yamamura et al.   Nature Communications

Isotopic Nitrogen-15 Labeling of Mice Identified Long-lived Proteins of the Renal Basement Membranes

(2020) Pan Liu et al.   Scientific Reports

Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.

(2020) Tomohiko Yamamura et al.   KIDNEY INTERNATIONAL

Genome editing with CRISPR–Cas nucleases, base editors, transposases and prime editors

(2020) Andrew V. Anzalone et al.   NATURE BIOTECHNOLOGY

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

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

New Negamycin-Based Potent Readthrough Derivative Effective against TGA-Type Nonsense Mutations

(2019) Keisuke Hamada et al.   ACS Medicinal Chemistry Letters

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

(2018) Maciej Dabrowski et al.   MOLECULAR MEDICINE

Gentamicin inducesLAMB3nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa

(2018) Vadim Lincoln et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The minor gentamicin complex component, X2, is a potent premature stop codon readthrough molecule with therapeutic potential

(2018) Westley J. Friesen et al.   PLoS One

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

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

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

(2017) Laure Bidou et al.   RNA Biology

Structure–Activity Relationship Study of Leucyl-3-epi-deoxynegamycin for Potent Premature Termination Codon Readthrough

(2017) Akihiro Taguchi et al.   ACS Medicinal Chemistry Letters

NanoLuc: A Small Luciferase Is Brightening Up the Field of Bioluminescence

(2016) Christopher G. England et al.   BIOCONJUGATE CHEMISTRY

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

(2016) Maximilian W. Popp et al.   CELL

Novel small molecules potentiate premature termination codon readthrough by aminoglycosides

(2016) Alireza Baradaran-Heravi 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

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

(2016) Judith Savige et al.   PLoS One

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

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

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

Ribosomal Readthrough at a Short UGA Stop Codon Context Triggers Dual Localization of Metabolic Enzymes in Fungi and Animals

(2014) Alina C. Stiebler et al.   PLoS Genetics

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

Temporal and spatial characterization of nonsense-mediated mRNA decay

(2013) T. Trcek et al.   GENES & DEVELOPMENT

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

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

Feasibility of Repairing Glomerular Basement Membrane Defects in Alport Syndrome

(2013) X. Lin et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Engineered Luciferase Reporter from a Deep Sea Shrimp Utilizing a Novel Imidazopyrazinone Substrate

(2012) Mary P. Hall et al.   ACS Chemical Biology

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

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

Negamycin Analogue with Readthrough-Promoting Activity as a Potential Drug Candidate for Duchenne Muscular Dystrophy

(2012) Akihiro Taguchi et al.   ACS Medicinal Chemistry Letters

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

(2011) Harald Brumm et al.   Obesity

Organogenesis of the kidney glomerulus

(2011) Jeffrey H. Miner   Organogenesis

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

The Alport syndrome COL4A5 variant database

(2010) David K. Crockett et al.   HUMAN MUTATION

Nonaminoglycoside compounds induce readthrough of nonsense mutations

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