Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination

Genetic variants that introduce premature termination codons (PTCs) have remained difficult to therapeutically target due to lack of protein product. Nonsense mediated mRNA decay (NMD) targets PTC-bearing transcripts to reduce the potentially damaging effects of truncated proteins. Readthrough compo...

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Detalles Bibliográficos
Autores principales: Bowling, Alyssa, Eastman, Alice, Merlo, Christian, Lin, Gabrielle, West, Natalie, Patel, Shivani, Cutting, Garry, Sharma, Neeraj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9504986/
https://www.ncbi.nlm.nih.gov/pubmed/36143233
http://dx.doi.org/10.3390/jpm12091448

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9504986/
https://www.ncbi.nlm.nih.gov/pubmed/36143233
http://dx.doi.org/10.3390/jpm12091448

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