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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279800/
https://www.ncbi.nlm.nih.gov/pubmed/25491247
http://dx.doi.org/10.1186/s13023-014-0180-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279800/
https://www.ncbi.nlm.nih.gov/pubmed/25491247
http://dx.doi.org/10.1186/s13023-014-0180-y

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