Article
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 - 19 May 2015
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
Abstract excerpt
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 that the MTRR pseudoexon is on the verge of being recognized and is therefore vulnerable to several point mutations...
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