Engineered tRNAs suppress nonsense mutations in cells and in vivo

AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice

(2022) Jiaming Wang et al.   NATURE

Eukaryotic tRNA sequences present conserved and amino acid-specific structural signatures

(2022) Eric Westhof et al.   NUCLEIC ACIDS RESEARCH

The impact of FDA and EMA regulatory decision-making process on the access to CFTR modulators for the treatment of cystic fibrosis

(2022) Enrico Costa 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

Combinatorial optimization of mRNA structure, stability, and translation for RNA-based therapeutics

(2022) Kathrin Leppek et al.   Nature Communications

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

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

Therapeutic promise of engineered nonsense suppressor tRNAs

(2021) Joseph J. Porter et al.   Wiley Interdisciplinary Reviews-RNA

Mechanisms that ensure speed and fidelity in eukaryotic translation termination

(2021) Michael R. Lawson et al.   SCIENCE

Repurposing tRNAs for nonsense suppression

(2021) Suki Albers et al.   Nature Communications

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

(2021) Jyoti Sharma et al.   Nature Communications

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

(2020) Jamie R Wangen et al.   eLife

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

(2020) Monica Borgatti et al.   Journal of Clinical Medicine

16HBE Cell Lipid Mediator Responses to Mono and Co-Infections with Respiratory Pathogens

(2020) Daniel Schultz et al.   Metabolites

Disruption of evolutionarily correlated tRNA elements impairs accurate decoding

(2020) Ha An Nguyen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human NMD ensues independently of stable ribosome stalling

(2020) Evangelos D. Karousis et al.   Nature Communications

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

(2020) Fran Supek et al.   TRENDS IN GENETICS

Engineered transfer RNAs for suppression of premature termination codons

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

Decreased mRNA and protein stability of W1282X limits response to modulator therapy

(2019) M.A. Aksit et al.   Journal of Cystic Fibrosis

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

Lipid-mRNA Nanoparticle Designed to Enhance Intracellular Delivery Mediated by Shock Waves

(2019) Jing Zhang et al.   ACS Applied Materials & Interfaces

Quality and quantity control of gene expression by nonsense-mediated mRNA decay

(2019) Tatsuaki Kurosaki et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mechanisms and functions of ribosome-associated protein quality control

(2019) Claudio A. P. Joazeiro   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Assessing cell-specific effects of genetic variations using tRNA microarrays

(2019) Christine Polte et al.   BMC GENOMICS

Invariable stoichiometry of ribosomal proteins in mouse brain tissues with aging

(2019) Susan Amirbeigiarab et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Stop codon readthrough generates a C-terminally extended variant of the human vitamin D receptor with reduced calcitriol response

(2018) Gary Loughran et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Roadblocks and resolutions in eukaryotic translation

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

Single-cell bioluminescence imaging of deep tissue in freely moving animals

(2018) Satoshi Iwano et al.   SCIENCE

Nonsense-Mediated mRNA Decay Begins Where Translation Ends

(2018) Evangelos D. Karousis et al.   Cold Spring Harbor Perspectives in Biology

Evolutionary tuning impacts the design of bacterial tRNAs for the incorporation of unnatural amino acids by ribosomes

(2018) Olke C Uhlenbeck et al.   CURRENT OPINION IN CHEMICAL BIOLOGY

Isogenic cell models of cystic fibrosis-causing variants in natively expressing pulmonary epithelial cells

(2018) Hillary C. Valley et al.   Journal of Cystic Fibrosis

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

Systemic delivery of factor IX messenger RNA for protein replacement therapy

(2017) Suvasini Ramaswamy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Alteration of protein function by a silent polymorphism linked to tRNA abundance

(2017) Sebastian Kirchner et al.   PLOS BIOLOGY

An integrated, structure- and energy-based view of the genetic code

(2016) Henri Grosjean 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

In Vivo Imaging Reveals Extracellular Vesicle-Mediated Phenocopying of Metastatic Behavior

(2015) Anoek Zomer et al.   CELL

Structural basis for stop codon recognition in eukaryotes

(2015) Alan Brown et al.   NATURE

Airway surface liquid homeostasis in cystic fibrosis: pathophysiology and therapeutic targets

(2015) Iram J Haq et al.   THORAX

A Functional Anatomic Defect of the Cystic Fibrosis Airway

(2014) Susan E. Birket et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA

(2014) Renata Bordeira-Carriço et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

mRNA-based therapeutics — developing a new class of drugs

(2014) Ugur Sahin et al.   NATURE REVIEWS DRUG DISCOVERY

Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis

(2013) Laia Masvidal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

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

Tuning the affinity of aminoacyl-tRNA to elongation factor Tu for optimal decoding

(2011) J. M. Schrader et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mammalian microRNAs predominantly act to decrease target mRNA levels

(2010) Huili Guo et al.   NATURE

Understanding the Sequence Specificity of tRNA Binding to Elongation Factor Tu using tRNA Mutagenesis

(2009) Jared M. Schrader et al.   JOURNAL OF MOLECULAR BIOLOGY

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION