rdf:type |
|
lifeskim:mentions |
umls-concept:C0016719,
umls-concept:C0017337,
umls-concept:C0021920,
umls-concept:C0030705,
umls-concept:C0205341,
umls-concept:C0206132,
umls-concept:C0376452,
umls-concept:C0387678,
umls-concept:C0439849,
umls-concept:C0445223,
umls-concept:C1414899,
umls-concept:C1444754,
umls-concept:C1552599,
umls-concept:C1704787
|
pubmed:issue |
12
|
pubmed:dateCreated |
2008-12-2
|
pubmed:abstractText |
The most frequent mutation of Friedreich ataxia (FRDA) is the abnormal expansion of a GAA repeat located within the first intron of FXN gene. It is known that the length of GAA is directly correlated with disease severity. The effect of mutation is a severe reduction of mRNA. Recently, a link among aberrant CpG methylation, chromatin organisation and GAA repeat was proposed.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Dec
|
pubmed:issn |
1468-6244
|
pubmed:author |
pubmed-author:AcquavivaFF,
pubmed-author:AvvedimentoV EVE,
pubmed-author:CastaldiSS,
pubmed-author:ChiariottiLL,
pubmed-author:CocozzaSS,
pubmed-author:FillaAA,
pubmed-author:GiacchettiMM,
pubmed-author:KellerSS,
pubmed-author:MonticelliAA,
pubmed-author:PinelliMM,
pubmed-author:SacchettiSS
|
pubmed:issnType |
Electronic
|
pubmed:volume |
45
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
808-12
|
pubmed:meshHeading |
pubmed-meshheading:18697824-Adolescent,
pubmed-meshheading:18697824-Age of Onset,
pubmed-meshheading:18697824-Base Sequence,
pubmed-meshheading:18697824-Child,
pubmed-meshheading:18697824-Child, Preschool,
pubmed-meshheading:18697824-DNA,
pubmed-meshheading:18697824-DNA Methylation,
pubmed-meshheading:18697824-Friedreich Ataxia,
pubmed-meshheading:18697824-Humans,
pubmed-meshheading:18697824-Introns,
pubmed-meshheading:18697824-Iron-Binding Proteins,
pubmed-meshheading:18697824-Molecular Sequence Data,
pubmed-meshheading:18697824-Trinucleotide Repeat Expansion,
pubmed-meshheading:18697824-Young Adult
|
pubmed:year |
2008
|
pubmed:articleTitle |
DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.
|
pubmed:affiliation |
Department of Cellular and Molecular Biology and Pathology, University of Naples Federico II, via Pansini 5, 80131, Naples, Italy.
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|