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ataluren

Known as: EC-000.2051 
National Institutes of Health

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Related topics

2 relations

Broader (1)

Oxadiazoles

Narrower (1)

PTC 124

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
In vitro metabolism, reaction phenotyping, enzyme kinetics, CYP inhibition and induction potential of ataluren
Ataluren promotes ribosomal readthrough of premature termination codons in mRNA which result from nonsense mutations. In vitro… 
Review
2019
Review
2019
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle
This is the second part of a two-part document intended to discuss recent therapeutic progresses in genetic neuromuscular… 
Review
2018
Review
2018
An Overview of Recent Therapeutics Advances for Duchenne Muscular Dystrophy.
  • J. Mah
  • Methods in molecular biology
  • 2018
  • Corpus ID: 6943675
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in childhood. Mutations of the DMD gene… 
Review
2017
Review
2017
Ataluren and similar compounds (specific therapies for premature termination codon class I mutations) for cystic fibrosis.
BACKGROUND Cystic fibrosis is a common life-shortening genetic disorder in the Caucasian population (less common in other ethnic… 
2016
2016
Ataluren for the treatment of cystic fibrosis
ABSTRACT Alleles causing diseases that carry premature termination codons (PTCs) will cause premature cessation of translation… 
2016
2016
WS13.3 A new combination of CFTR modulators corrects processing and reduces chronic inhibition for F508del-CFTR
2015
2015
Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene
PurposeTo describe the clinical, functional, and genetic findings in a young Caucasian girl and her father, in whom a mutation of… 
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… 
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… 
Review
2012
Review
2012
Cystic Fibrosis Transmembrane Conductance Regulator–Modifying Medications: The Future of Cystic Fibrosis Treatment
OBJECTIVE: To review and evaluate cystic fibrosis transmembrane conductance regulator (CFTR) modulators for the treatment of… 
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