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Can an Antisense Oligonucleotide Exon Skipping Rewrite the Story of N-Acetylglucosamine-1-Phosphotransferase Deficiency?

2025-11-28Documento de conferência Acesso restrito
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datacite.subject.fosCiências Médicas
datacite.subject.fosCiências Naturais
dc.contributor.authorGonçalves, M.
dc.contributor.authorMoreira, L.
dc.contributor.authorEncarnação, M.
dc.contributor.authorGaspar, P.
dc.contributor.authorDuarte, A.J.
dc.contributor.authorSantos, J.I.
dc.contributor.authorCoutinho, M.F.
dc.contributor.authorPrata, M.J.
dc.contributor.authorOmidi, M.
dc.contributor.authorPohl, S.
dc.contributor.authorSilva, F.
dc.contributor.authorOliveira, P.
dc.contributor.authorMatos, L.
dc.contributor.authorAlves, S.
dc.date.accessioned2026-03-03T17:35:29Z
dc.date.available2026-03-03T17:35:29Z
dc.date.issued2025-11-28
dc.description.abstractMucolipidosis II (ML II) is a Lysosomal Storage Disorder caused by N-acetylglucosamine-1-phosphotransferase (GlcNAc-PT) deficiency, which impairs the trafficking of lysosomal hydrolases. Of all ML II mutations, c.3503_3504delTC in GNPTAB exon 19 is the most frequent, making it a good target for a personalized therapy. Here, we explored an innovative therapeutic strategy based on the use of antisense oligonucleotides (ASOs). Previously, in ML II patients’ fibroblasts, we tested ASOs to induce exon 19 skipping in pre-mRNA, successfully generating an in-frame mRNA (Matos et al., 2020). Now, our aim is to determine whether this in-frame transcript leads to increased GlcNAc-PT levels improving ML II cellular phenotype.eng
dc.description.sponsorshipThis work is supported by the “Bolsa da Sociedade Portuguesa de Doenças Metabólicas (SPDM) de apoio à investigação Dr. Aguinaldo Cabral 2019” (2020DGH1834) and by the Associate Laboratory for Animal and Veterinary Sciences (AL4AnimalS), project AL4A-PROJ-LT3.5. M. Gonçalves has a PhD grant (2022.13676.BD) from the Portuguese Foundation for Science and Technology (FCT).
dc.identifier.urihttp://hdl.handle.net/10400.18/11067
dc.language.isoeng
dc.peerreviewedyes
dc.relationInnovative & personalized RNA-based therapies for rare diseases and development of models for their testing: application to Mucolipidosis II
dc.rights.uriN/A
dc.subjectMucolipidosis II
dc.subjectAntisense Oligonucleotides
dc.subjectLysosomal Storage Diseases
dc.subjectGenética Humana
dc.subjectDoenças Genéticas
dc.subjectTerapias de RNA
dc.subjectDoenças Lisossomais de Sobrecarga
dc.subjectMucolipidose tipo II
dc.subjectGNPTAB Gene
dc.subjectRNA Therapy
dc.titleCan an Antisense Oligonucleotide Exon Skipping Rewrite the Story of N-Acetylglucosamine-1-Phosphotransferase Deficiency?eng
dc.typeconference object
dspace.entity.typePublication
oaire.awardNumber2022.13676.BD
oaire.awardTitleInnovative & personalized RNA-based therapies for rare diseases and development of models for their testing: application to Mucolipidosis II
oaire.awardURIhttp://hdl.handle.net/10400.18/10895
oaire.citation.conferenceDate2025-11-28
oaire.citation.conferencePlacePorto, Portugal
oaire.citation.titleII Thematic Meeting of the Associated Laboratory AL4animalS, 28 novembro 2025
oaire.versionhttp://purl.org/coar/version/c_b1a7d7d4d402bcce
relation.isProjectOfPublication337d6c06-975b-4c8f-8a41-f47d51b7386f
relation.isProjectOfPublication.latestForDiscovery337d6c06-975b-4c8f-8a41-f47d51b7386f

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