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PTC 124

Known as: PTC-124, PTC124 
National Institutes of Health

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1 relation

Broader (1)

ataluren

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
Emerging technologies for cystic fibrosis transmembrane conductance regulator restoration in all people with CF
Although effective cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy has the potential to change the… 
2015
2015
Tissue‐specific variation in nonsense mutant transcript level and drug‐induced read‐through efficiency in the Cln1 R151X mouse model of INCL
About 10% of inherited diseases are caused by nonsense mutations [Trends Mol Med 18 (2012) 688], and nonsense suppression drug… 
Highly Cited
2014
Highly Cited
2014
Muscle dysfunction and structural defects of dystrophin‐null sapje mutant zebrafish larvae are rescued by ataluren treatment
Sapje zebrafish carry a mutation in the dystrophin gene, which results in a premature stop codon, and a severe muscle phenotype… 
Review
2014
Review
2014
Therapy strategies for Usher syndrome Type 1C in the retina.
The Usher syndrome (USH) is the most common form of inherited deaf-blindness with a prevalence of ~ 1/6,000. Three clinical… 
2013
2013
In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria
Phenylketonuria (PKU, OMIM 261600) is an autosomal recessive inborn error of phenylalanine metabolism, predominantly caused by… 
2012
2012
The Chemical Compound PTC124 Does Not Affect Cellular Electrophysiology of Cardiac Ventricular Myocytes
PurposeNonsense mutations that create premature termination codons (PTC) leading to disease by a mechanism of haploinsufficiency… 
2010
2010
Ataluren (PTC124) Induces CFTR Protein Expression and Activity in Children with Nonsense Mutation Cystic Fibrosis
2010
2010
Gene changes in Duchenne muscular dystrophy: comparison of multiplex PCR and multiplex ligation-dependent probe amplification techniques.
BACKGROUND Duchenne muscular dystrophy (DMD) is a common X-linked recessive neuromuscular disorder, affecting 1 in 3,500 live… 
Review
2008
Review
2008
New approaches to treatment of primary immunodeficiencies: fixing mutations with chemicals
Purpose of reviewThis review is to highlight the most current mutation-targeted therapeutic approaches and provide insights into… 
2007
2007
PTC124, nonsense mutations and Duchenne muscular dystrophy
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