Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

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 near...

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Detalhes bibliográficos
Autor principal: Matos, Liliana (author)
Outros Autores: Canals, Isaac (author), Dridi, Labri (author), Choi, Yoo (author), Prata, Maria Joâo (author), Jordan, Peter (author), Desviat, Lourdes R. (author), Perez, Belén (author), Pshezhetsky, A.V. (author), Grinberg, Daniel (author), Alves, Sandra (author), Vilageliu, Lluisa (author)
Formato: article
Idioma:eng
Publicado em: 2016
Assuntos:
Doenças Genéticas
Splicing
Mutation
Lysosomal Storage Disease
Texto completo:http://hdl.handle.net/10400.18/3392
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3392

Texto Completo

http://hdl.handle.net/10400.18/3392

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