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

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-contai...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Sarkar, Hajrah, Mitsios, Andreas, Smart, Matthew, Skinner, Jane, Welch, Ailsa A, Kalatzis, Vasiliki, Coffey, Peter J, Dubis, Adam M, Webster, Andrew R, Moosajee, Mariya
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
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General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6522067/
https://ncbi.nlm.nih.gov/pubmed/30689859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz028
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