Gonçalves, M.Moreira, L.Encarnação, M.Gaspar, P.Duarte, A.J.Santos, J.I.Coutinho, M.F.Prata, M.J.Omidi, M.Pohl, S.Silva, F.Oliveira, P.Matos, L.Alves, S.2026-03-032026-03-032025-11-28http://hdl.handle.net/10400.18/11067Mucolipidosis 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.engMucolipidosis IIAntisense OligonucleotidesLysosomal Storage DiseasesGenética HumanaDoenças GenéticasTerapias de RNADoenças Lisossomais de SobrecargaMucolipidose tipo IIGNPTAB GeneRNA Therapyconference object