Name: PTC124 (Ataluren)
Price: 188.00 USD

- Overview
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    Background
    
    PTC124 is a selective inhibitor of nonsense mutations with IC50 value of 0.1μM [1].Nonsense mutation is a point mutation in a sequence of DNA which promotes premature translational termination. Different from missense mutation, nonsense mutation means a single nucleotide is changed and results in the substitution of a different amino acid. It has been reported that some genetic disorders (thalassemia, DMD, CF, Hurler syndrome) are correlated with nonsense mutation [1, 2]. PTC124 is a potent nonsense mutations inhibitor. When tested with human or mdx mice primary muscle cells expressing dystrophin nonsense alleles, 2-8 weeks treatment of PTC124 enhanced the production of dystrophin [1]. In iPSC-derived RPE cells with nonsense mutation c.519C>T (p.R120X), PTC124 treatment restored endogenous, full-length RP2 protein with near 20% [3]. When tested with COS7 cells carrying the nonsense mutation pDsRed-EGFPmtag-Y445X, EGFP transcript level was increased after treated by PTC124 in a dose-dependent manner [2].In mdx mice model, oral administration of PTC124 for 2-8 weeks rescued striated muscle function [1]. In a model of Cftr-/- mice expressing a human CFTR-G542X transgene, s.c. injection or oral administration of PTC124 restored a considerable amount of human (h) CFTR protein and function via suppressing G542X nonsense mutation [4].
    
    [1]. Welch, E.M., et al., PTC124 targets genetic disorders caused by nonsense mutations. Nature, 2007. 447(7140): p. 87-91.
    [2]. Shen, Q., P. Guo, and B. Chai, pDsRed-EGFPmtag-, an effective dual fluorescent reporter system for cell-based screens of premature termination codon. Cytotechnology, 2014.
    [3]. Schwarz, N., et al., Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells. Hum Mol Genet, 2015. 24(4): p. 972-86.
    [4]. Du, M., et al., PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model. Proc Natl Acad Sci U S A, 2008. 105(6): p. 2064-9.
- Properties
  - Alternative Name
    
    PTC 124;PTC-124; 3-[5-(2-fluorophenyl)-1,2,4-oxadiazol-3-yl]benzoic acid
    
    CAS Number
    
    775304-57-9
    
    Molecular Formula
    
    C15H9FN2O3
    
    Molecular Weight
    
    284.24
    
    Appearance
    
    A solid
    
    Purity
    
    98.00%
    
    Solubility
    
    insoluble in H2O; ≥10.6 mg/mL in DMSO; ≥2.37 mg/mL in EtOH with gentle warming
    
    Storage
    
    Store at -20°C
    
    * For Research Use Only

PTC124 (Ataluren)

PTC124 (Ataluren)

Background

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