Calap-Quintana, P. and Navarro, J. A. and Gonzalez-Fernandez, J. and Martinez-Sebastian, M. J. and Molto, M. D. and Llorens, J. V. (2018) Drosophila melanogaster Models of Friedreich's Ataxia. BIOMED RESEARCH INTERNATIONAL: 5065190. ISSN 2314-6133, 2314-6141
Full text not available from this repository. (Request a copy)Abstract
Friedreich's ataxia (FRDA) is a rare inherited recessive disorder affecting the central and peripheral nervous systems and other extraneural organs such as the heart and pancreas. This incapacitating condition usually manifests in childhood or adolescence, exhibits an irreversible progression that confines the patient to a wheelchair, and leads to early death. FRDA is caused by a reduced level of the nuclear-encoded mitochondrial protein frataxin due to an abnormal GAA triplet repeat expansion in the first intron of the human FXN gene. FXN is evolutionarily conserved, with orthologs in essentially all eukaryotes and some prokaryotes, leading to the development of experimental models of this disease in different organisms. These FRDA models have contributed substantially to our current knowledge of frataxin function and the pathogenesis of the disease, as well as to explorations of suitable treatments. Drosophila melanogaster, an organism that is easy to manipulate genetically, has also become important in FRDA research. This review describes the substantial contribution of Drosophila to FRDA research since the characterization of the fly frataxin ortholog more than 15 years ago. Fly models have provided a comprehensive characterization of the defects associated with frataxin deficiency and have revealed genetic modifiers of disease phenotypes. In addition, these models are now being used in the search for potential therapeutic compounds for the treatment of this severe and still incurable disease.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ALTERED LIPID-METABOLISM; IRON-SULFUR CLUSTERS; OXIDATIVE STRESS; MOUSE MODELS; FRATAXIN DEPLETION; HYDROGEN-PEROXIDE; GENE-EXPRESSION; DENTATE NUCLEUS; COPPER-BINDING; YEAST MODEL; |
| Subjects: | 500 Science > 570 Life sciences 500 Science > 590 Zoological sciences |
| Divisions: | Biology, Preclinical Medicine > Institut für Zoologie |
| Depositing User: | Petra Gürster |
| Date Deposited: | 25 Jun 2020 05:15 |
| Last Modified: | 25 Jun 2020 05:15 |
| URI: | https://pred.uni-regensburg.de/id/eprint/15398 |
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