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

Autor: Rugivan Sabaratnam, Bruno Palhais, Veronica S. Præstegaard, Henriette Skovgaard Andersen, Viktor Kožich, Patricie Burda, Thomas Koed Doktor, Seraina Lutz, Brian Fowler, Gitte Hoffmann Bruun, Terttu Suormala, Matthias R. Baumgartner, Brage S. Andresen

Publikováno v: Palhais, B, Præstegaard, V, Sabaratnam, R, Doktor, T K, Lutz, S, Burda, P, Suormala, T, Baumgartner, M, Fowler, B, Bruun, G H, Andersen, H S, Kozich, V & Andresen, B S 2015, ' 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 ', Nucleic Acids Research, vol. 43, no. 9, pp. 4627-4639 . https://doi.org/10.1093/nar/gkv275
Nucleic acids research
Nucleic Acids Research

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 critica

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