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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis

Fig. 2

Nonsense suppression therapies in combination with nonsense mediated decay inhibitors. a Transcripts containing premature termination codons (PTC) are targeted for degradation via nonsense mediated decay (NMD) resulting in decreased protein production. However, transcripts that escape NMD predominately lead to the translation of truncated proteins. b The negative effect of PTCs, truncated protein production, can be suppressed with PTC suppressors and NMD inhibitors. NMD inhibitors prevent NMD resulting in a larger portion of PTC containing transcripts. PTC suppressors promote the translation of PTC containing transcripts into full-length proteins. When PTC suppressors and NMD inhibitors are utilized in combination, the outcome is synergistic thus resulting in an increased abundance of full-length proteins

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