Article
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.
Orphanet journal of rare diseases - 10 Dec 2014
Matos Liliana, Canals Isaac, Dridi Larbi, Choi Yoo, Prata Maria João, Jordan Peter, Desviat Lourdes R, Pérez Belén, Pshezhetsky Alexey V, Grinberg Daniel, Alves Sandra, Vilageliu Lluïsa
Abstract excerpt
BACKGROUND: Mutations affecting RNA splicing represent more than 20% of the mutant alleles in Sanfilippo syndrome type C, a rare lysosomal storage disorder that causes severe neurodegeneration. Many of these mutations are localized in the conserved donor or acceptor splice sites, while few are found in the nearby nucleotides. METHODS: In this study we tested several therapeutic approaches specifically designed...
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