| 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 |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| 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 | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Genotyping technologies for genetic research.
Next Document: Chronic pancreatitis: genetics and pathogenesis.