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Drosophila melanogaster models of Friedreich's ataxia

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Drosophila melanogaster models of Friedreich's ataxia

dc.contributor.author	Calap Quintana, Pablo
dc.contributor.author	Navarro Langa, Juan Antonio
dc.contributor.author	González-Fernández, Javier
dc.contributor.author	Martínez Sebastián, María José
dc.contributor.author	Moltó Ruiz, María Dolores
dc.contributor.author	Llorens Llorens, Jose Vte.
dc.date.accessioned	2018-04-17T14:21:38Z
dc.date.available	2018-04-17T14:21:38Z
dc.date.issued	2018
dc.identifier.citation	Calap-Quintana, Pablo Navarro, Juan A. González-Fernández, Javier Martínez Sebastián, María José Moltó Ruiz, María Dolores Llorens Llorens, Jose Vte. 2018 Drosophila melanogaster models of Friedreich's ataxia Biomed Research International 2018
dc.identifier.uri	http://hdl.handle.net/10550/65753
dc.description.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 associatedwith 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.
dc.language.iso	eng
dc.relation.ispartof	Biomed Research International, 2018, vol. 2018
dc.subject	Sistema nerviós Malalties
dc.subject	Genètica
dc.title	Drosophila melanogaster models of Friedreich's ataxia
dc.type	journal article	es_ES
dc.date.updated	2018-04-17T14:21:38Z
dc.identifier.doi	10.1155/2018/5065190
dc.identifier.idgrec	125542
dc.rights.accessRights	open access	es_ES