A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of anUSH1Cnonsense mutation

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

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

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

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

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

(2011) Polona Le Quesne Stabej et al.   JOURNAL OF MEDICAL GENETICS

Suppression of CFTR premature termination codons and rescue of CFTR protein and function by the synthetic aminoglycoside NB54

(2011) Steven M. Rowe et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Post-transcriptionally Regulated Expression System in Human Xenogeneic Transplantation Models

(2011) Hui-Ling Rose Lee et al.   MOLECULAR THERAPY

Pharmacological Enhancement of ex vivo Gene Therapy Neuroprotection in a Rodent Model of Retinal Degeneration

(2011) Kevin Gregory-Evans et al.   OPHTHALMIC RESEARCH

Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations

(2011) Manuela Vecsler et al.   PLoS One

Repairing faulty genes by aminoglycosides: Identification of new pharmacophore with enhanced suppression of disease-causing nonsense mutations

(2011) Jeyakumar Kandasamy et al.   MedChemComm

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

Repairing faulty genes by aminoglycosides: Development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations

(2010) Igor Nudelman et al.   BIOORGANIC & MEDICINAL CHEMISTRY

Cellular mechanisms of aminoglycoside ototoxicity

(2010) Mark E Warchol   Current Opinion in Otolaryngology & Head and Neck Surgery

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

Genetics and pathological mechanisms of Usher syndrome

(2010) Denise Yan et al.   JOURNAL OF HUMAN GENETICS

Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model

(2010) Cornelia Brendel et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

New insights into the mechanism of aminoglycoside nephrotoxicity: an integrative point of view

(2010) Jose M. Lopez-Novoa et al.   KIDNEY INTERNATIONAL

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

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

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

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

The translocation of signaling molecules in dark adapting mammalian rod photoreceptor cells is dependent on the cytoskeleton

(2008) Boris Reidel et al.   CELL MOTILITY AND THE CYTOSKELETON

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