Human geneticists have shown that some progeroid syndromes are caused by mutations that interfere with the conversion of farnesyl-prelamin A to mature lamin A. For example, Hutchinson-Gilford progeria syndrome is caused by LMNA mutations that lead to the accumulation of a farnesylated version of prelamin A. In this review, we discuss the posttranslational modifications of prelamin A and their relevance to the pathogenesis and treatment of progeroid syndromes.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846822 | PMC |
| http://dx.doi.org/10.1146/annurev-genom-082908-150150 | DOI Listing |
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