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DC Field | Value | Language |
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dc.contributor.author | Anjomani-Virmouni, S | - |
dc.contributor.author | Al-Mahdawi, S | - |
dc.contributor.author | Sandi, C | - |
dc.contributor.author | Yasaei, H | - |
dc.contributor.author | Giunti, P | - |
dc.contributor.author | Slijepcevic, P | - |
dc.contributor.author | Pook, M | - |
dc.date.accessioned | 2016-07-19T10:20:24Z | - |
dc.date.available | 2016-07-19T10:20:24Z | - |
dc.date.issued | 2015-06-10 | - |
dc.identifier | 22 | - |
dc.identifier.citation | Anjomani Virmouni, S., Al-Mahdawi, S., Sandi, C., Yasaei, H., Giunti, P., Slijepcevic, P. and Pook, M. (2015) 'Identification of telomere dysfunction in Friedreich ataxia', Molecular Neurodegeneration, 10, 22, pp. 1-11. doi: 10.1186/s13024-015-0019-6. | en_US |
dc.identifier.uri | https://bura.brunel.ac.uk/handle/2438/12968 | - |
dc.description.abstract | Copyright © The Author(s) 2022. Background: Friedreich ataxia (FRDA) is a progressive inherited neurodegenerative disorder caused by mutation of the FXN gene, resulting in decreased frataxin expression, mitochondrial dysfunction and oxidative stress. A recent study has identified shorter telomeres in FRDA patient leukocytes as a possible disease biomarker. Results: Here we aimed to investigate both telomere structure and function in FRDA cells. Our results confirmed telomere shortening in FRDA patient leukocytes and identified similar telomere shortening in FRDA patient autopsy cerebellar tissues. However, FRDA fibroblasts showed significantly longer telomeres at early passage, occurring in the absence of telomerase activity, but with activation of an alternative lengthening of telomeres (ALT)-like mechanism. These cells also showed accelerated telomere shortening as population doubling increases. Furthermore, telomere dysfunction-induced foci (TIF) analysis revealed that FRDA fibroblasts have dysfunctional telomeres. Conclusions: Our finding of dysfunctional telomeres in FRDA cells provides further insight into FRDA molecular disease mechanisms, which may have implications for future FRDA therapy. | en_US |
dc.description.sponsorship | This work was supported by funding from the European Union Seventh Framework Programme [FP7/2007-2013] under grant agreement number 242193/EFACTS (CS) and the Wellcome Trust [089757] (SA) to MAP. PG is supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. | en_US |
dc.format.extent | 1 - 11 | - |
dc.language.iso | en | en_US |
dc.publisher | Biomed Central | en_US |
dc.rights | Copyright © The Author(s) 2022. Rights and permissions: Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit https://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (https://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. | - |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | - |
dc.subject | Friedreich ataxia | en_US |
dc.subject | FRDA | en_US |
dc.subject | frataxin | en_US |
dc.subject | FXN | en_US |
dc.subject | GAA repeat expansion | en_US |
dc.subject | mouse model | en_US |
dc.subject | alternative lengthening of telomeres | en_US |
dc.subject | ALT | en_US |
dc.subject | telomere dysfunction | en_US |
dc.title | Identification of telomere dysfunction in Friedreich ataxia. | en_US |
dc.type | Article | en_US |
dc.identifier.doi | https://doi.org/10.1186/s13024-015-0019-6 | - |
dc.relation.isPartOf | Molecular Neurodegeneration | - |
pubs.notes | Estimated date added for REF requirements. | - |
pubs.publication-status | Published | - |
pubs.volume | 10 | - |
dc.identifier.eissn | 1750-1326 | - |
Appears in Collections: | Dept of Life Sciences Research Papers |
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