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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: A generalizable pre-clinical research approach for orphan disease therapy

Figure 4

Therapeutic approaches based on small molecules and ASOs. Small molecules have the potential to regulate the expression of genes. Haploinsufficient or partially functioning proteins can be upregulated to compensate for the reduced activity. If a non-functional mutated gene has a homolog with overlapping function, the homolog can be upregulated to partly compensate for the non-functioning protein (termed rescuing paralog). ASOs have the potential to modify pre-mRNA splicing or expression. Cryptic splice sites caused by mutations can be blocked to correct splicing. Conversely, genes with overexpression or with gain-of-function mutations can be downregulated.

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