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An Antisense Oligonucletide based therapy for a rare disease: in vitro and in vivo studies

2023-02Conference object Restricted access
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dc.contributor.authorGonçalves, M.
dc.contributor.authorMatos, L.
dc.contributor.authorSantos, J.I.
dc.contributor.authorCoutinho, M.F.
dc.contributor.authorPrata, M.J.
dc.contributor.authorPires, M.J.
dc.contributor.authorOliveira, P.A.
dc.contributor.authorAlves, Sandra
dc.date.accessioned2024-02-27T16:41:52Z
dc.date.available2024-02-27T16:41:52Z
dc.date.issued2023-02
dc.description.abstractMucolipidosis type II (ML II) is a Lysosomal Storage Disorder caused by the deficiency of the enzyme GlcNAc-1-phosphotransferase. This enzyme is responsible for the addition of the mannose-6-phosphate marker to lysosomal enzymes allowing their targeting to lysosomes. From the several ML II mutations, the deletion of two nucleotides from GNPTAB exon 19 (c.3503_3504del) is the most frequent, making it a good target for a mutation specific therapy. In this study, we explored an innovative therapeutic strategy based on the use of antisense oligonucleotides (ASOs) for ML II. In a previous study1 on fibroblasts from ML II patients, ASOs were used to skip exon 19 of the GNPTAB pre-mRNA, successfully resulting in the production of an in-frame mRNA. Currently, our objective is to evaluate the therapeutic potential of this approach, both in vitro in C57BL/6 fibroblasts and in vivo in C57BL/6 mice.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/9146
dc.language.isoengpt_PT
dc.subjectMucolipidosis Type IIpt_PT
dc.subjectLysosomal Storage Disorderpt_PT
dc.subjectGenética Humanapt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleAn Antisense Oligonucletide based therapy for a rare disease: in vitro and in vivo studiespt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceBilbao, Espanhapt_PT
oaire.citation.titleDelivery of Antisense RNA Therapeutics (DARTER) Final meeting of the Cost Action CA17103, 22-24 February 2023pt_PT
rcaap.rightsrestrictedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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