Novel small molecules potentiate premature termination codon readthrough by aminoglycosides

NMD: At the crossroads between translation termination and ribosome recycling

(2015) Alper Celik et al.   BIOCHIMIE

Mechanism, factors, and physiological role of nonsense-mediated mRNA decay

(2015) Tobias Fatscher et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

Therapeutics Based on Stop Codon Readthrough

(2014) Kim M. Keeling et al.   Annual Review of Genomics and Human Genetics

Ataluren: First Global Approval

(2014) Nicola J. Ryan   DRUGS

Ataluren treatment of patients with nonsense mutation dystrophinopathy

(2014) Katharine Bushby et al.   MUSCLE & NERVE

Structural basis for the inhibition of the eukaryotic ribosome

(2014) Nicolas Garreau de Loubresse et al.   NATURE

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

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis

(2013) Jake N. Miller et al.   HUMAN MOLECULAR GENETICS

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

(2013) Xenia Lojewski et al.   HUMAN MOLECULAR GENETICS

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

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

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

Attenuation of Nonsense-Mediated mRNA Decay Enhances In Vivo Nonsense Suppression

(2013) Kim M. Keeling 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

SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models

(2012) Richard A. Gatti   Annals of the New York Academy of Sciences

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

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

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

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

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

(2011) Kamel Mamchaoui et al.   Skeletal Muscle

Inhibition of Autophagosome Formation by the Benzoporphyrin Derivative Verteporfin

(2010) Elizabeth Donohue et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides

(2010) Célia Floquet et al.   NUCLEIC ACIDS RESEARCH

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

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

A meta-analysis of nonsense mutations causing human genetic disease

(2008) Matthew Mort et al.   HUMAN MUTATION

Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis

(2008) David E. Sleat et al.   MOLECULAR GENETICS AND METABOLISM

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