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Annu Rev Genomics Hum Genet. 2009;10:153-74. doi: 10.1146/annurev-genom-082908-150150.

The posttranslational processing of prelamin A and disease.

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Department of Medicine, University of California, Los Angeles, California 90095, USA.


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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