The posttranslational processing of prelamin A and disease

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 pre...

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Bibliographic Details
Published in:Annual review of genomics and human genetics 2009-01, Vol.10 (1), p.153-174
Main Authors: Davies, Brandon S J, Fong, Loren G, Yang, Shao H, Coffinier, Catherine, Young, Stephen G
Format: Article
Language:English
Subjects:
Animals
Disease Models, Animal
Enzyme Inhibitors - therapeutic use
Farnesyltranstransferase - antagonists & inhibitors
Humans
Infant, Newborn
Lamin Type A
Nuclear Proteins - genetics
Nuclear Proteins - metabolism
Progeria - drug therapy
Progeria - genetics
Progeria - metabolism
Protein Precursors - genetics
Protein Precursors - metabolism
Protein Processing, Post-Translational
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Summary: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.
ISSN:1527-8204
1545-293X
DOI:10.1146/annurev-genom-082908-150150