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

Ataluren (PTC124) Induces Cystic Fibrosis Transmembrane Conductance Regulator Protein Expression and Activity in Children with Nonsense Mutation Cystic Fibrosis

(2010) Isabelle Sermet-Gaudelus et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

NMD: RNA biology meets human genetic medicine

(2010) Madhuri Bhuvanagiri et al.   BIOCHEMICAL JOURNAL

Illuminating Insights into Firefly Luciferase and Other Bioluminescent Reporters Used in Chemical Biology

(2010) Natasha Thorne et al.   CHEMISTRY & BIOLOGY

Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression

(2010) Bingjing Wang et al.   JOURNAL OF APPLIED PHYSIOLOGY

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

A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton

(2009) Nancy Braverman et al.   MOLECULAR GENETICS AND METABOLISM

Nonsense suppression activity of PTC124 (ataluren)

(2009) S. W. Peltz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reply to Peltz et al: Post-translational stabilization of the firefly luciferase reporter by PTC124 (Ataluren)

(2009) J. Inglese et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders

(2008) Wing Yan Yik et al.   HUMAN MUTATION

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

Aminoglycoside induced ototoxicity

(2008) O’neil W. Guthrie   TOXICOLOGY

Designer aminoglycosides: the race to develop improved antibiotics and compounds for the treatment of human genetic diseases

(2007) Mariana Hainrichson et al.   ORGANIC & BIOMOLECULAR CHEMISTRY