Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel

PTC124-Mediated Translational Readthrough of a Nonsense Mutation Causing Usher Syndrome Type 1C

(2011) T. Goldmann et al.   HUMAN GENE THERAPY

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

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

Targeting RNA to treat neuromuscular disease

(2011) Francesco Muntoni et al.   NATURE REVIEWS DRUG DISCOVERY

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

(2011) Harald Brumm et al.   Obesity

Cystic fibrosis transmembrane conductance regulator protein repair as a therapeutic strategy in cystic fibrosis

(2010) Peter A Sloane et al.   CURRENT OPINION IN PULMONARY MEDICINE

Characterization of a Binding Site for Anionic Phospholipids on KCNQ1

(2010) Alison M. Thomas et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Patient-Specific Induced Pluripotent Stem-Cell Models for Long-QT Syndrome

(2010) Alessandra Moretti et al.   NEW ENGLAND JOURNAL OF MEDICINE

Stoichiometry of the KCNQ1 - KCNE1 ion channel complex

(2010) K. Nakajo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Mechanisms of disease pathogenesis in long QT syndrome type 5

(2009) Stephen C. Harmer et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations

(2009) Yan Yao et al.   HEART RHYTHM

Direct Observation of Individual KCNQ1 Potassium Channels Reveals Their Distinctive Diffusive Behavior

(2009) Gregory I. Mashanov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nonaminoglycoside compounds induce readthrough of nonsense mutations

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

Development of Novel Aminoglycoside (NB54) with Reduced Toxicity and Enhanced Suppression of Disease-Causing Premature Stop Mutations

(2009) Igor Nudelman et al.   JOURNAL OF MEDICINAL CHEMISTRY

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

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

(2008) Eitan Kerem et al.   LANCET

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

An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome

(2008) Zahurul A. Bhuiyan et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY