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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Bibliographic Details
Main Author: Matos, Liliana (author)
Other Authors: 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)
Format: article
Language:eng
Published: 2016
Subjects:
Doenças Genéticas
Splicing
Mutation
Lysosomal Storage Disease
Online Access:http://hdl.handle.net/10400.18/3392
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3392

Internet

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

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