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Antisense oligonucleotide exon-skipping as a therapeutic approach for a rare disease
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Orientador(es)
Resumo(s)
Mucolipidosis II (MLII) is a Lysosomal Storage Disorder caused by the
deficiency of the enzyme GlcNAc-1-phosphotransferase, which is responsible for the Mannose-
6-Phosphate marker addition to lysosomal enzymes. Of all MLII mutations, the
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) for MLII. Previously, on MLII patients’ fibroblasts, ASOs
were used to skip exon 19 of the GNPTAB pre-mRNA, successfully resulting in the production
of an in-frame mRNA[1]. Now, our aim is to analyze if these results are translated to the
enzymatic and cellular phenotype level.
Descrição
Palavras-chave
Mucolipidosis II Lysosomal Storage Disorder Genética Humana Doenças Genéticas Rare Disease