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

Alves, SandraPérez, BelénDesviat, LourdesMatos, Liliana2016-03-032017-12-012015-10http://hdl.handle.net/10400.18/3606Study 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).engDoenças GenéticasU1snRNA TherapyMPS IML III alpha/betaLysosomal Storage Disorders (LSDs)Development of a U1 snRNA-adapted gene therapeutic strategy to correct 5’ splicing defects in lysosomal storage disordersjournal article