Friedreich's ataxia--a case of aberrant transcription termination?

Friedreich's ataxia--a case of aberrant transcription termination?
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DOI:
10.1080/21541264.2015.1026538
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发表时间:
2015
期刊:
Transcription
影响因子:
--
通讯作者:
Napierala M
Napierala M
中科院分区:
其他
文献类型:
--
作者:
Butler JS;Napierala M

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Reduced expression of the mitochondrial protein Frataxin (FXN) is the underlying cause of Friedreich's ataxia. We propose a model of premature termination of FXN transcription induced by pathogenic expanded GAA repeats that links R-loop structures, antisense transcription, and heterochromatin formation as a novel mechanism of transcriptional repression in Friedreich's ataxia.