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Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics

23 Jan 2019

Abstract excerpt

Choroideremia (CHM) is an x-linked recessive chorioretinal dystrophy, with 30% caused by nonsense mutations in the CHM gene resulting in an in-frame premature termination codon (PTC). Nonsense-mediated mRNA decay (NMD) is the cell's natural surveillance mechanism that detects and destroys PTC-containing transcripts, with UPF1 being the central NMD modulator. NMD efficiency can be variable amongst individuals with...

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PMID: 30689859
DOI: 10.1093/hmg/ddz028

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