相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。PTC124 targets genetic disorders caused by nonsense mutations
Ellen M. Welch et al.
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Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers
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Clinical doses of amikacin provide more effective suppression of the human CFTR-G542X stop mutation than gentamicin in a transgenic CF mouse model
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Early nonsense: mRNA decay solves a translational problem
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Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations
M Wilschanski et al.
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The phenotypic consequences of CFTR mutations
RK Rowntree et al.
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Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene
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JOURNAL OF MOLECULAR MEDICINE-JMM (2002)
Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system
KM Keeling et al.
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Correction of CFTR malfunction and stimulation of Ca2+- activated Cl- channels restore HCO3- secretion in cystic fibrosis bile ductular cells
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HEPATOLOGY (2002)
Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis
JP Clancy et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2001)
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity
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Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system
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A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations
M Wilschanski et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2000)
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