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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Disease Models, Animal
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Enzyme Inhibitors / therapeutic use
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Farnesyltranstransferase / antagonists & inhibitors
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Humans
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Infant, Newborn
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Lamin Type A
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Nuclear Proteins / genetics
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Nuclear Proteins / metabolism*
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Progeria / drug therapy
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Progeria / genetics
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Progeria / metabolism*
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Protein Precursors / genetics
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Protein Precursors / metabolism*
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Protein Processing, Post-Translational*
Substances
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Enzyme Inhibitors
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Lamin Type A
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Nuclear Proteins
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Protein Precursors
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prelamin A
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Farnesyltranstransferase