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An engineered U1 snRNA-based therapeutic approach can efficiently rescue a 5’ splice site mutation causing Mucolipidosis type III

2025-11-28Documento de conferência Acesso restrito
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datacite.subject.fosCiências Médicas
datacite.subject.fosCiências Naturais
dc.contributor.authorPeretto, L.
dc.contributor.authorGonçalves, M.
dc.contributor.authorSantos, J.I.
dc.contributor.authorDuarte, A.J.
dc.contributor.authorMoreira, L.
dc.contributor.authorEncarnação, M.
dc.contributor.authorCoutinho, M.F.
dc.contributor.authorPinotti, M.
dc.contributor.authorBalestra, D.
dc.contributor.authorAlves, S.
dc.contributor.authorMatos, L.
dc.date.accessioned2026-03-03T17:30:47Z
dc.date.available2026-03-03T17:30:47Z
dc.date.issued2025-11-28
dc.description.abstractA significant number of splicing mutations have been identified in Lysosomal Storage Disorders (LSDs). Mucolipidosis III (ML III) is a LSD caused by GlcNAc-1-phosphotransferase deficiency, which impairs the trafficking of lysosomal hydrolases. 10% of the genetic defects in ML III are splicing mutations, and around 45% affect 5' splice-sites (ss) thus constituting a good target for mutation specific therapies. The use of engineered U1 snRNA (either modified U1 snRNAs or exon-specific U1s - ExSpeU1s) has been applied as a potential therapeutic strategy to correct 5’ss defects. Here we used engineered U1 snRNAs to correct the GNPTAB exon 17 skipping caused by the 5’ss mutation (c.3335+6T>G) found in a ML III patient. eng
dc.description.sponsorshipInstituto Nacional de Saúde Doutor Ricardo Jorge
dc.identifier.urihttp://hdl.handle.net/10400.18/11066
dc.language.isoeng
dc.peerreviewedyes
dc.rights.uriN/A
dc.subjectGenética Humana
dc.subjectDoenças Genéticas
dc.subjectTerapias de RNA
dc.subjectDoenças Lisossomais de Sobrecarga
dc.subjectMucilipidose tipo III
dc.subjectTerapias com U1 snRNA modificados
dc.subjectLysosomal Storage Disorder
dc.subjectMucolipidosis III
dc.subject5’ Splice-Site Mutation
dc.subjectU1 snRNA-Based Therapy
dc.subjectExSpeU1
dc.titleAn engineered U1 snRNA-based therapeutic approach can efficiently rescue a 5’ splice site mutation causing Mucolipidosis type IIIeng
dc.typeconference object
dspace.entity.typePublication
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

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