Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus

Friedreich's ataxia (FRDA) is a severe neurodegenerative disease caused by homozygous expansion of the guanine-adenine-adenine (GAA) repeats in intron 1 of the FXN gene leading to transcriptional repression of frataxin expression. Post-translational histone modifications that typify heterochrom...

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Publicado no:Hum Mol Genet
Main Authors: Li, Yanjie, Lu, Yue, Polak, Urszula, Lin, Kevin, Shen, Jianjun, Farmer, Jennifer, Seyer, Lauren, Bhalla, Angela D., Rozwadowska, Natalia, Lynch, David R., Butler, Jill Sergesketter, Napierala, Marek
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4654050/
https://ncbi.nlm.nih.gov/pubmed/26401053
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv397
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