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Percorrer por autor "Oliveira, P."

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  • Can an Antisense Oligonucleotide Exon Skipping Rewrite the Story of N-Acetylglucosamine-1-Phosphotransferase Deficiency?
    Publication . 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.
    Mucolipidosis 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.
    2025-11-28Documento de conferência Acesso restrito Ver mais
  • Epidemiology and pathology of bovine schistosomiasis in Mozambique
    Publication . Botelho, M.C.; Ferreira, M.L.; Oliveira, P.; Alves, H.; Richter, J.
    AIM: To study the epidemiology and pathology of bovine schistosomiasis in Mozambique. BACKGROUND: - Bovine schistosomiasis is of great importance in Africa. It is caused by Schistosoma bovis; - In bovines the symptoms are similar to humans, mainly intestinal, hepato-splenic, vesical and genital; - It has been shown to be endemic through all Africa and in some Mediterranean countries (Portugal, Spain, Italy, Iraque and Israel); - Hybrids of S. haematobium and S. bovis are known to infect humans.
    2016-11Documento de conferência Acesso aberto Ver mais