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Delivery of the 135kb human frataxin genomic DNA locus gives rise to different frataxin isoforms

AutorPérez-Luz, S.; Giménez-Cassina, A.; Fernández-Frias, I.; Wade-Martins, R.; Díaz-Nido, Javier
Palabras claveHSV-1 amplicons
Frataxin
Friedreich's ataxia
Gene therapy
Bacterial artificial chromosomes
Fecha de publicación28-may-2015
EditorAcademic Press
CitaciónGenomics 106: 76- 82 (2015)
Resumen© 2015 Elsevier Inc. Friedreich's ataxia (FRDA) is the most common form of hereditary ataxia caused by recessive mutations in the FXN gene. Recent results have indicated the presence of different frataxin isoforms due to alternative gene expression mechanisms. Our previous studies demonstrated the advantages of using high-capacity herpes simplex virus type 1 (HSV-1) amplicon vectors containing the entire FXN genomic locus (iBAC-FXN) as a gene-delivery vehicle capable of ensuring physiologically-regulated and long-term persistence. Here we describe how expression from the 135. kb human FXN genomic locus produces the three frataxin isoforms both in cultured neuronal cells and also in vivo. Moreover, we also observed the correct expression of these frataxin isoforms in patient-derived cells after delivery of the iBAC-. FXN. These results lend further support to the potential use of HSV-1 vectors containing entire genomic loci whose expression is mediated by complex transcriptional and posttranscriptional mechanisms for gene therapy applications.
URIhttp://hdl.handle.net/10261/133471
DOI10.1016/j.ygeno.2015.05.006
Identificadoresdoi: 10.1016/j.ygeno.2015.05.006
issn: 1089-8646
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