Journal
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
Volume 10, Issue -, Pages 153-174Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-082908-150150
Keywords
prenylation; ZMPSTE24; restrictive dermopathy; FTI
Categories
Funding
- National Institutes of Health [AR050200, HL76839, HL86683]
- March of Dimes [6-FY2007-1012]
- Ellison Medical Foundation Senior Scholar Award
- NATIONAL HEART, LUNG, AND BLOOD INSTITUTE [R01HL076839, R01HL086683] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES [R01AR050200] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON AGING [R01AG035626] Funding Source: NIH RePORTER
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Human geneticists have shown that some progeroid syndromes are caused by mutations that interfere with the conversion of farnesylprelamin 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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