Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus.
<h4>Background</h4>Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, which induces epigenetic changes and FXN gene silencing. Bisulfite sequencing studies have identified 5-methylcytosine (5 mC) DNA methylation as one of the...
Main Authors: | Sahar Al-Mahdawi, Chiranjeevi Sandi, Ricardo Mouro Pinto, Mark A Pook |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2013-01-01
|
Series: | PLoS ONE |
Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24023969/?tool=EBI |
Similar Items
-
Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia.
by: Lingli Li, et al.
Published: (2013-01-01) -
Epigenetic-based therapies for Friedreich ataxia
by: Chiranjeevi eSandi, et al.
Published: (2014-06-01) -
Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia.
by: Sara Anjomani Virmouni, et al.
Published: (2014-01-01) -
MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.
by: Vahid Ezzatizadeh, et al.
Published: (2014-01-01) -
The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model
by: Vahid Ezzatizadeh, et al.
Published: (2012-04-01)