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DC Field | Value | Language |
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dc.contributor.author | Xia, H | - |
dc.contributor.author | Cao, Y | - |
dc.contributor.author | Dai, X | - |
dc.contributor.author | Marelja, Z | - |
dc.contributor.author | Zhou, D | - |
dc.contributor.author | Mo, R | - |
dc.contributor.author | Al-Mahdawi, S | - |
dc.contributor.author | Pook, MA | - |
dc.contributor.author | Leimkühler, S | - |
dc.contributor.author | Rouault, TA | - |
dc.contributor.author | Li, K | - |
dc.date.accessioned | 2012-11-12T12:15:33Z | - |
dc.date.available | 2012-11-12T12:15:33Z | - |
dc.date.issued | 2012 | - |
dc.identifier.citation | PLoS ONE, 7(10): e47847, Oct 2012 | en_US |
dc.identifier.issn | 1932-6203 | - |
dc.identifier.uri | http://www.plosone.org/article/info%3Adoi/10.1371/journal.pone.0047847 | en |
dc.identifier.uri | http://bura.brunel.ac.uk/handle/2438/7013 | - |
dc.description | This is an open-access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication. | en_US |
dc.description.abstract | Friedreich ataxia (FRDA) is an inherited neurodegenerative disease caused by frataxin (FXN) deficiency. The nervous system and heart are the most severely affected tissues. However, highly mitochondria-dependent tissues, such as kidney and liver, are not obviously affected, although the abundance of FXN is normally high in these tissues. In this study we have revealed two novel FXN isoforms (II and III), which are specifically expressed in affected cerebellum and heart tissues, respectively, and are functional in vitro and in vivo. Increasing the abundance of the heart-specific isoform III significantly increased the mitochondrial aconitase activity, while over-expression of the cerebellum-specific isoform II protected against oxidative damage of Fe-S cluster-containing aconitase. Further, we observed that the protein level of isoform III decreased in FRDA patient heart, while the mRNA level of isoform II decreased more in FRDA patient cerebellum compared to total FXN mRNA. Our novel findings are highly relevant to understanding the mechanism of tissue-specific pathology in FRDA. | en_US |
dc.description.sponsorship | This work was supported by the intramural program of the National Institute of Child Health and Human Development, National Institutes of Health, and in part by Friedreich ataxia research association; by the National Nature Science Foundation of China (NSFC) (No. 31071085), by the Scientific Research Foundation for the Returned Overseas Chinese Scholars, State Education Ministry, and by State Key Laboratory of Pharmaceutical Biotechnology (No. ZZYJ-SN-201006). Zvonimir Marelja was supported by a grant from the Studienstiftung des Deutschen Volkes and by Deutscher Akademischer Austauschdienst scholarship. Additional support was obtained from the Deutsche Forschungsgemeinschaft Grant SL1171/5-3. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Public Library of Science | en_US |
dc.title | Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxia | en_US |
dc.type | Article | en_US |
dc.identifier.doi | http://dx.doi.org/10.1371/journal.pone.0047847 | - |
pubs.organisational-data | /Brunel | - |
pubs.organisational-data | /Brunel/Brunel Active Staff | - |
pubs.organisational-data | /Brunel/Brunel Active Staff/School of Health Sciences & Social Care | - |
pubs.organisational-data | /Brunel/Brunel Active Staff/School of Health Sciences & Social Care/Biological Sciences | - |
pubs.organisational-data | /Brunel/University Research Centres and Groups | - |
pubs.organisational-data | /Brunel/University Research Centres and Groups/School of Health Sciences and Social Care - URCs and Groups | - |
pubs.organisational-data | /Brunel/University Research Centres and Groups/School of Health Sciences and Social Care - URCs and Groups/Brunel Institute for Ageing Studies | - |
pubs.organisational-data | /Brunel/University Research Centres and Groups/School of Health Sciences and Social Care - URCs and Groups/Brunel Institute of Cancer Genetics and Pharmacogenomics | - |
pubs.organisational-data | /Brunel/University Research Centres and Groups/School of Health Sciences and Social Care - URCs and Groups/Centre for Systems and Synthetic Biology | - |
Appears in Collections: | Biological Sciences Dept of Life Sciences Research Papers |
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