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

Read-Through Strategies for Suppression of Nonsense Mutations in Duchenne/ Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)

(2010) Richard S. Finkel   JOURNAL OF CHILD NEUROLOGY

Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I

(2009) Chandheeb Rajakumar et al.   JOURNAL OF LIPID RESEARCH

Stop codon read-through of a Methylmalonic aciduria mutation

(2009) Nicole E. Buck et al.   MOLECULAR GENETICS AND METABOLISM

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

(2009) Cheryl R. Greenberg et al.   MOLECULAR GENETICS AND METABOLISM

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