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...

Descripción completa

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

Ejemplares similares

Ejemplares similares