Journal
YEAR IN HUMAN AND MEDICAL GENETICS: INBORN ERRORS OF IMMUNITY III
Volume 1250, Issue -, Pages 33-40Publisher
BLACKWELL SCIENCE PUBL
DOI: 10.1111/j.1749-6632.2012.06467.x
Keywords
SMRT compounds; nonsense mutation; primary immunodeficiency; DNA
Funding
- NIAID NIH HHS [U19 AI067769, AI067769, U19 AI067769-05] Funding Source: Medline
- NINDS NIH HHS [R01 NS052528-03, NS052528, R01 NS052528] Funding Source: Medline
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Within less than 10 years after the realization of the double helix of DNA, the ability of aminoglycosides to influence the misreading or readthrough of premature termination codons was discovered. It took another three decades to clone and sequence disease genes and appreciate the similarity of mutation spectra for most inborn errors. Nonsense mutations once again have become the target of readthrough compounds. In this brief review, we trace the development in our laboratory of the next generation of readthrough agents, small molecule readthrough (SMRT) drug-like chemicals, and assays for comparing their in vitro activity. Possible mechanisms of action and potential clinical applications are considered.
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