Browsing by Issue Date, starting with "2018-09-11"
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- Phylogenetic analysis of the ornithophilic Borrelia turdi using next generation sequencing.Publication . Margos, G.; Becker, N.S.; Ramos, J.A.; Carvalho, I.L.; Norte, A.C.Borrelia turdi is a genospecies of the B. burgdorferi sensu lato complex that exists in crytic transmission cycles mainly between ornithophilic tick vectors and their avian host.
- Tissue infection by Borrelia burgdorferi s.l. in natural and experimental infected avian hostsPublication . Norte, A.C.; Carvalho, I.L.; Núncio, M.S.; Araújo, P.M.; Matthysen, E.; Ramos, J.A.; Heylen, D.Borrelia burgdorferi sl.l. is a bacterial complex that includes pathognic and non-pathogenic genospecies to humans, with diferente reservoir host and vector species associations patterns. The study of the tropismo of B. Burgdorferi sl.l. in the hosts, how the infection is sequestered in diferente organs, and whether i tis maintained in circulation and/or in the host´s skin, is importante to understand pathogenicity and reservoir competency.
- Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense TherapyPublication . Matos, Liliana; Duarte, Ana Joana; Ribeiro, Diogo; Chaves, João; Amaral, Olga; Alves, SandraUnverricht-Lundborg disease (ULD) is a common form of progressive myoclonic epilepsy caused by mutations in the cystatin B gene (CSTB) that encodes an inhibitor of several lysosomal cathepsins. Presently, only pharmacological treatment and psychosocial support are available for ULD patients. To overcome the pathogenic effect of the ULD splicing mutation c.66G>A (exon 1), we investigated whether an antisense oligonucleotide therapeutic strategy could correct the defect in patient cells. A specific locked nucleic acid (LNA) antisense oligonucleotide was designed to block a cryptic 5′ss in intron 1. Overall, this approach allowed the restoration of the normal splicing pattern. Furthermore, the recovery was both sequence and dose-specific. In general, this work provides a proof of principle on the correction of a CSTB gene defect causing ULD through a mutation-specific antisense therapy. It adds evidence to the feasibility of this approach, joining the many studies that are paving the way for translating antisense technology into the clinical practice. The insights detailed herein make mutation-based therapy a clear candidate for personalized treatment of ULD patients, encouraging similar investigations into other genetic diseases.