Document Detail


The posttranslational processing of prelamin A and disease.
MedLine Citation:
PMID:  19453251     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Brandon S J Davies; Loren G Fong; Shao H Yang; Catherine Coffinier; Stephen G Young
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Annual review of genomics and human genetics     Volume:  10     ISSN:  1545-293X     ISO Abbreviation:  Annu Rev Genomics Hum Genet     Publication Date:  2009  
Date Detail:
Created Date:  2009-08-31     Completed Date:  2009-10-13     Revised Date:  2014-09-10    
Medline Journal Info:
Nlm Unique ID:  100911346     Medline TA:  Annu Rev Genomics Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  153-74     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Animals
Disease Models, Animal
Enzyme Inhibitors / therapeutic use
Farnesyltranstransferase / antagonists & inhibitors
Humans
Infant, Newborn
Nuclear Proteins / genetics,  metabolism*
Progeria / drug therapy,  genetics,  metabolism*
Protein Precursors / genetics,  metabolism*
Protein Processing, Post-Translational*
Grant Support
ID/Acronym/Agency:
AR050200/AR/NIAMS NIH HHS; HL76839/HL/NHLBI NIH HHS; HL86683/HL/NHLBI NIH HHS; R01 AG035626/AG/NIA NIH HHS; R01 AG035626-07/AG/NIA NIH HHS
Chemical
Reg. No./Substance:
0/Enzyme Inhibitors; 0/Nuclear Proteins; 0/Protein Precursors; 0/prelamin A; EC 2.5.1.29/Farnesyltranstransferase
Comments/Corrections

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