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

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 f...

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Detalles Bibliográficos
Autores principales: Butler, Jill Sergesketter, Napierala, Marek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2015
Materias:
Point-of-View
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581357/
https://www.ncbi.nlm.nih.gov/pubmed/25831023
http://dx.doi.org/10.1080/21541264.2015.1026538
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author Butler, Jill Sergesketter
Napierala, Marek
author_facet Butler, Jill Sergesketter
Napierala, Marek
author_sort Butler, Jill Sergesketter
collection PubMed
description 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.
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spelling pubmed-45813572016-02-03 Friedreich's ataxia – a case of aberrant transcription termination? Butler, Jill Sergesketter Napierala, Marek Transcription Point-of-View 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. Taylor & Francis 2015-04-01 /pmc/articles/PMC4581357/ /pubmed/25831023 http://dx.doi.org/10.1080/21541264.2015.1026538 Text en © 2015 The Author(s). Published with license by Taylor & Francis Group, LLC http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. The moral rights of the named author(s) have been asserted.
spellingShingle Point-of-View
Butler, Jill Sergesketter
Napierala, Marek
Friedreich's ataxia – a case of aberrant transcription termination?
title Friedreich's ataxia – a case of aberrant transcription termination?
title_full Friedreich's ataxia – a case of aberrant transcription termination?
title_fullStr Friedreich's ataxia – a case of aberrant transcription termination?
title_full_unstemmed Friedreich's ataxia – a case of aberrant transcription termination?
title_short Friedreich's ataxia – a case of aberrant transcription termination?
title_sort friedreich's ataxia – a case of aberrant transcription termination?
topic Point-of-View
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581357/
https://www.ncbi.nlm.nih.gov/pubmed/25831023
http://dx.doi.org/10.1080/21541264.2015.1026538
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AT napieralamarek friedreichsataxiaacaseofaberranttranscriptiontermination

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