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

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

The Genomic, Biochemical, and Cellular Responses of the Retina in Inherited Photoreceptor Degenerations and Prospects for the Treatment of These Disorders

(2010) Alexa N. Bramall et al.   Annual Review of Neuroscience

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

Light-dependent translocation of arrestin in rod photoreceptors is signaled through a phospholipase C cascade and requires ATP

(2009) Wilda Orisme et al.   CELLULAR SIGNALLING

Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa

(2008) K. Guerin et al.   EXPERIMENTAL EYE RESEARCH

Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease

(2008) M. Moosajee et al.   HUMAN MOLECULAR GENETICS

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes

(2008) David Baux 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

Introducing sense into nonsense in treatments of human genetic diseases

(2008) Liat Linde et al.   TRENDS IN GENETICS

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

SANS (USH1G) expression in developing and mature mammalian retina

(2007) Nora Overlack et al.   VISION RESEARCH