Absence of p.R50X Pygm read-through in McArdle disease cellular models

Variable readthrough responsiveness of nonsense mutations in hemophilia A

(2019) Lluis Martorell et al.   HAEMATOLOGICA

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease

(2019) Elyshia L McNamara et al.   HUMAN MOLECULAR GENETICS

Readthrough of ACTN3 577X nonsense mutation produces full-length α-actinin-3 protein

(2018) Nagakatsu Harada et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis

(2018) Emma J. Brasell et al.   PEDIATRIC NEPHROLOGY

Aminoglycoside-mediated promotion of translation readthrough occurs through a non-stochastic mechanism that competes with translation termination

(2017) H M Chowdhury et al.   HUMAN MOLECULAR GENETICS

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

(2016) Zuzanna Bukowy-Bieryllo et al.   RNA Biology

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro

(2015) N. de Luna et al.   Disease Models & Mechanisms

McArdle Disease: Update of Reported Mutations and Polymorphisms in thePYGMGene

(2015) Gisela Nogales-Gadea et al.   HUMAN MUTATION

Investigating sodium valproate as a treatment for McArdle disease in sheep

(2015) J.McC. Howell et al.   NEUROMUSCULAR DISORDERS

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

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells

(2014) Nele Schwarz et al.   HUMAN MOLECULAR GENETICS

Toward a Rationale for the PTC124 (Ataluren) Promoted Readthrough of Premature Stop Codons: A Computational Approach and GFP-Reporter Cell-Based Assay

(2014) Laura Lentini et al.   MOLECULAR PHARMACEUTICS

Comparison of read-through effects of aminoglycosides and PTC124 on rescuing nonsense mutations of HERG gene associated with long QT syndrome

(2013) HAIYUN YU et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Eukaryotic mRNA Decay: Methodologies, Pathways, and Links to Other Stages of Gene Expression

(2013) José E. Pérez-Ortín et al.   JOURNAL OF MOLECULAR BIOLOGY

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

Clinical and Molecular Characterization of Mcardle’s Disease in Brazilian Patients

(2013) Juliana Gurgel-Giannetti et al.   NEUROMOLECULAR MEDICINE

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

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

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

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

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry

(2012) Alejandro Lucia et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon

(2012) Kathryn E. Birch et al.   NEUROMUSCULAR DISORDERS

Rescue of nonsense mutations by amlexanox in human cells

(2012) Sara Gonzalez-Hilarion et al.   Orphanet Journal of Rare Diseases

Sense from nonsense: therapies for premature stop codon diseases

(2012) Laure Bidou et al.   TRENDS IN MOLECULAR MEDICINE

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

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

Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia

(2011) Kotoka Nakamura et al.   HUMAN MUTATION

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation

(2011) Lu Tan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations

(2010) Patricia K. Dranchak et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

McArdle disease: a clinical review

(2010) R. Quinlivan et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2010) Célia Floquet et al.   NUCLEIC ACIDS RESEARCH

Production of β-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous β039 thalassemia patients

(2009) Francesca Salvatori et al.   AMERICAN JOURNAL OF HEMATOLOGY

Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease

(2009) J. Vissing et al.   BRAIN

In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome

(2009) Samuel Bellais et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo

(2009) Christopher R. Heier et al.   HUMAN MOLECULAR GENETICS

Poly-l-aspartic Acid Enhances and Prolongs Gentamicin-mediated Suppression of theCFTR-G542X Mutation in a Cystic Fibrosis Mouse Model

(2009) Ming Du et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nonaminoglycoside compounds induce readthrough of nonsense mutations

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

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

Adenovirus and adeno-associated virus-mediated delivery of human myophosphorylase cDNA and LacZ cDNA to muscle in the ovine model of McArdle’s disease: Expression and re-expression of glycogen phosphorylase

(2008) J.McC. Howell et al.   NEUROMUSCULAR DISORDERS

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