Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells

The prevalent c.903+469T>C mutation in MTRR causes the cblE type of homocystinuria by strengthening an SRSF1 binding site in an ESE leading to activation of a pseudoexon. We hypothesized that other splicing regulatory elements (SREs) are also critical for MTRR pseudoexon inclusion. We demonstrate...

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Detalles Bibliográficos
Autores principales: Palhais, Bruno, Præstegaard, Veronica S., Sabaratnam, Rugivan, Doktor, Thomas Koed, Lutz, Seraina, Burda, Patricie, Suormala, Terttu, Baumgartner, Matthias, Fowler, Brian, Bruun, Gitte Hoffmann, Andersen, Henriette Skovgaard, Kožich, Viktor, Andresen, Brage Storstein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
RNA
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4482064/
https://www.ncbi.nlm.nih.gov/pubmed/25878036
http://dx.doi.org/10.1093/nar/gkv275

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