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
Palhais, Bruno B; Præstegaard, Veronica S VS; Sabaratnam, Rugivan R; Doktor, Thomas Koed TK; Lutz, Seraina S; Burda, Patricie P; Suormala, Terttu T; Baumgartner, Matthias M; Fowler, Brian B; Bruun, Gitte Hoffmann GH; Andersen, Henriette Skovgaard HS; Kožich, Viktor V; Andresen, Brage Storstein BS
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E