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

Autor: Butler JS; a University of Alabama at Birmingham; Department of Biochemistry and Molecular Genetics ; UAB Stem Cell Institute ; Birmingham , AL USA., Napierala M
Jazyk: angličtina
Zdroj: Transcription [Transcription] 2015; Vol. 6 (2), pp. 33-6. Date of Electronic Publication: 2015 Apr 01.
DOI: 10.1080/21541264.2015.1026538
Abstrakt: 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.
Databáze: MEDLINE