Journal
TRENDS IN MOLECULAR MEDICINE
Volume 12, Issue 7, Pages 306-316Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.molmed.2006.05.005
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Funding
- NIGMS NIH HHS [GM 05961, GM 074593] Funding Source: Medline
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Premature termination codons (PTCs) are equivalent to nonsense sequences. They encode no amino acid, and their presence precludes the synthesis of full-length proteins. Furthermore, the resulting truncated proteins, if synthesized and stable, are likely to be non-functional or might even be deleterious to cellular metabolism. Approximately one third of genetic and acquired diseases are due to PTCs. In fact, PTCs are apt to cause at least some cases of all diseases that involve protein insufficiency. Cells have evolved a way to eliminate mRNAs that contain PTCs using a mechanism called nonsense-mediated mRNA decay (NMD). Here, we will review how to determine which PTCs elicit NMD, what is currently known about the mechanism of NMD, and additional information that is pertinent to establishing therapies for PTC-associated diseases.
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