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Fig. 8 | Orphanet Journal of Rare Diseases

Fig. 8

From: Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update

Fig. 8

Current approaches for targeted treatment: modulating DUX4 repressive pathways, targeting DUX4 mRNA, DUX4 protein, or cellular downstream effects of DUX4 expression. Regarding DUX4 mRNA LNA gapmer AOs are further illustrated on the right; These are single-stranded, short oligonucleotides containing a DNA portion flanked by LNA. The LNA parts increase the affinity for the target and provide nuclease resistance, DNA parts activate RNase H [207, 240, 241]; The extra methylene group of LNAs is attached between the 2′-O-and the 4′-positions “locks” the ribofuranosyl-ring in its 3′-endo conformation (shown under the magnifying glass) [240]

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