Document Detail


Gene regulation and epigenetics in Friedreich's ataxia.
MedLine Citation:
PMID:  23859339     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
This is an exciting time in the study of Friedreich's ataxia. Over the last 10 years much progress has been made in uncovering the mechanisms, whereby the Frataxin gene is silenced by (GAA)n repeat expansions and several of the findings are now ripe for testing in the clinic. The discovery that the Frataxin gene is heterochromatinised and that this can be antagonised in vivo has led to the tantalizing possibility that the disease might be amenable to a more radical therapeutic approach involving epigenetic modifiers. Here, we set out to review progress in the understanding of the fundamental mechanisms whereby genes are regulated at this level and how these findings have been applied to achieve a deeper understanding of the dysregulation that occurs as the primary genetic lesion in Friedreich's ataxia.
Authors:
Cihangir Yandim; Theona Natisvili; Richard Festenstein
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Journal of neurochemistry     Volume:  126 Suppl 1     ISSN:  1471-4159     ISO Abbreviation:  J. Neurochem.     Publication Date:  2013 Aug 
Date Detail:
Created Date:  2013-07-17     Completed Date:  2013-09-16     Revised Date:  2014-02-20    
Medline Journal Info:
Nlm Unique ID:  2985190R     Medline TA:  J Neurochem     Country:  England    
Other Details:
Languages:  eng     Pagination:  21-42     Citation Subset:  IM    
Copyright Information:
© 2013 International Society for Neurochemistry.
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MeSH Terms
Descriptor/Qualifier:
DNA Methylation
DNA Repeat Expansion
DNA, Antisense / genetics
Epigenesis, Genetic / genetics*
Friedreich Ataxia / genetics*
Gene Expression Regulation / genetics
Histones / metabolism
Humans
Iron-Binding Proteins / genetics
RNA Interference
Transcription, Genetic / genetics
Grant Support
ID/Acronym/Agency:
G116/182//Medical Research Council; MC_U120081321//Medical Research Council; //Medical Research Council
Chemical
Reg. No./Substance:
0/DNA, Antisense; 0/Histones; 0/Iron-Binding Proteins; 0/frataxin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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