| Prelamin A farnesylation and progeroid syndromes. | |
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MedLine Citation:
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PMID: 17090536 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Hutchinson-Gilford progeria syndrome (HGPS) is caused by a LMNA mutation that leads to the synthesis of a mutant prelamin A that is farnesylated but cannot be further processed to mature lamin A. A more severe progeroid disorder, restrictive dermopathy (RD), is caused by the loss of the prelamin A-processing enzyme, ZMPSTE24. The absence of ZMPSTE24 prevents the endoproteolytic processing of farnesyl-prelamin A to mature lamin A and leads to the accumulation of farnesyl-prelamin A. In both HGPS and RD, the farnesyl-prelamin A is targeted to the nuclear envelope, where it interferes with the integrity of the nuclear envelope and causes misshapen cell nuclei. Recent studies have shown that the frequency of misshapen nuclei can be reduced by treating cells with a farnesyltransferase inhibitor (FTI). Also, administering an FTI to mouse models of HGPS and RD ameliorates the phenotypes of progeria. These studies have prompted interest in testing the efficacy of FTIs in children with HGPS. |
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Authors:
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Stephen G Young; Margarita Meta; Shao H Yang; Loren G Fong |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review Date: 2006-11-07 |
Journal Detail:
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Title: The Journal of biological chemistry Volume: 281 ISSN: 0021-9258 ISO Abbreviation: J. Biol. Chem. Publication Date: 2006 Dec |
Date Detail:
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Created Date: 2006-12-25 Completed Date: 2007-02-12 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 2985121R Medline TA: J Biol Chem Country: United States |
Other Details:
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Languages: eng Pagination: 39741-5 Citation Subset: IM |
Affiliation:
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Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA. sgyoung@mednet.ucla.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Humans Nuclear Proteins / chemistry, genetics, metabolism*, physiology Progeria / etiology, genetics, metabolism*, pathology Protein Precursors / chemistry, genetics, metabolism*, physiology Protein Prenylation / genetics Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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AR050200/AR/NIAMS NIH HHS; AR050966/AR/NIAMS NIH HHS; HL086683/HL/NHLBI NIH HHS; HL76839/HL/NHLBI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Nuclear Proteins; 0/Protein Precursors; 0/prelamin A |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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