| Literature DB >> 19453251 |
Brandon S J Davies1, Loren G Fong, Shao H Yang, Catherine Coffinier, Stephen G Young.
Abstract
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.Entities:
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Year: 2009 PMID: 19453251 PMCID: PMC2846822 DOI: 10.1146/annurev-genom-082908-150150
Source DB: PubMed Journal: Annu Rev Genomics Hum Genet ISSN: 1527-8204 Impact factor: 8.929