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Development of RNA based approaches to exploit alternative therapies for Lysosomal Storage Diseases

2019-09Conference object Open access
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dc.contributor.authorMatos, L.
dc.contributor.authorSantos, J.I.
dc.contributor.authorRocha, M.
dc.contributor.authorCoutinho, M.F.
dc.contributor.authorGaspar, P.
dc.contributor.authorVoltolini Velho, R.
dc.contributor.authorBraulke, T.
dc.contributor.authorPrata, M.J.
dc.contributor.authorAlves, S.
dc.date.accessioned2020-05-23T15:49:58Z
dc.date.available2020-05-23T15:49:58Z
dc.date.issued2019-09
dc.description.abstractTreatment strategies such enzyme-replacement therapy and substrate reduction, among others, are available for some Lysosomal Storage Diseases, yet still with some limitations. In recent years, the RNA molecule became one of the most promising targets for therapeutic intervention and currently, a large number of RNA-based therapies are being investigated at the basic research level and in late-stage clinical trials. Actually, some of them are already approved for medical use (e.g. Spinal muscular atrophy and Duchenne muscular dystrophy). RNA-based approaches can act at pre-mRNA level (by splicing modulation/correction using antisense oligonucleotides or U1snRNA vectors), at mRNA level (inhibiting gene expression by siRNAs and antisense oligonucleotides) or at DNA level (by editing mutated sequences through the use of CRISPR/Cas). Currently, we are developing some of these therapeutic approaches for LSDs. Two main research lines are ongoing: one involves the use of antisense U1 snRNAs to overcome the effect of a splice site mutation causing Mucopolysaccharidosis type IIIC and the other is based on the use of splice switching oligonucleotides to induce the skipping and consequently circumvent the effects of the most common causal mutation in Mucolipidosis type II.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6791
dc.language.isoengpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectLysosomal Storage Diseasespt_PT
dc.subjectMucolipidosis type IIpt_PT
dc.subjectRNA Therapiespt_PT
dc.subjectDoenças Lisossomais de Sobrecargapt_PT
dc.subjectTerapias de RNApt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleDevelopment of RNA based approaches to exploit alternative therapies for Lysosomal Storage Diseasespt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceVIC, Catalonia, Espanhapt_PT
oaire.citation.title22nd ESGLD Workshop and Graduate Course, European Study Group on Lysosomal Diseases, 9-13 September 2019pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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