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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.
Palhais B, Præstegaard VS, Sabaratnam R, Doktor TK, Lutz S, Burda P, Suormala T, Baumgartner M, Fowler B, Bruun GH, Andersen HS, Kožich V, Andresen BS. Palhais B, et al. Among authors: sabaratnam r. Nucleic Acids Res. 2015 May 19;43(9):4627-39. doi: 10.1093/nar/gkv275. Epub 2015 Apr 15. Nucleic Acids Res. 2015. PMID: 25878036 Free PMC article.
The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Olsen RK, Brøner S, Sabaratnam R, Doktor TK, Andersen HS, Bruun GH, Gahrn B, Stenbroen V, Olpin SE, Dobbie A, Gregersen N, Andresen BS. Olsen RK, et al. Among authors: sabaratnam r. Hum Mutat. 2014 Jan;35(1):86-95. doi: 10.1002/humu.22455. Epub 2013 Oct 28. Hum Mutat. 2014. PMID: 24123825
Intact Regulation of the AMPK Signaling Network in Response to Exercise and Insulin in Skeletal Muscle of Male Patients With Type 2 Diabetes: Illumination of AMPK Activation in Recovery From Exercise.
Kjøbsted R, Pedersen AJ, Hingst JR, Sabaratnam R, Birk JB, Kristensen JM, Højlund K, Wojtaszewski JF. Kjøbsted R, et al. Among authors: sabaratnam r. Diabetes. 2016 May;65(5):1219-30. doi: 10.2337/db15-1034. Epub 2016 Jan 28. Diabetes. 2016. PMID: 26822091 Clinical Trial.
38 results