Gonçalves, M.Matos, L.Santos, J.I.Coutinho, M.F.Prata, M.J.Pires, M.J.Oliveira, P.A.Alves, Sandra2024-02-272024-02-272023-02http://hdl.handle.net/10400.18/9146Mucolipidosis 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.engMucolipidosis Type IILysosomal Storage DisorderGenética HumanaDoenças Genéticasconference object