Development of a U1 snRNA-adapted gene therapeutic strategy to correct 5’ splicing defects in lysosomal storage disorders

Alves, Sandra; Pérez, Belén; Desviat, Lourdes; Matos, Liliana

http://hdl.handle.net/10400.18/3606

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Abstract(s)

Study aims: To overcome the pathogenic effect of two 5’ splice donor site (SDS) mutations diagnosed in LSDs patients, we have exploited the use of the antisense-U1 snRNA mediated therapeutic strategy to correct both 5’ SDS mutations that were reported in patients with Mucopolysaccharidosis type I (MPS I) (3) and Mucolipidosis III alpha/beta (ML III alpha/beta).