Premature termination codons in the DMD gene cause reduced local mRNA synthesis

Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene leading to the presence of premature termination codons (PTC). Previous transcriptional studies have shown reduced DMD transcript levels in DMD patient and animal model muscles when PTC are present. Nonsense-mediated decay (NMD...

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Gepubliceerd in:Proc Natl Acad Sci U S A
Hoofdauteurs: García-Rodríguez, Raquel, Hiller, Monika, Jiménez-Gracia, Laura, van der Pal, Zarah, Balog, Judit, Adamzek, Kevin, Aartsma-Rus, Annemieke, Spitali, Pietro
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: National Academy of Sciences 2020
Onderwerpen:
Biological Sciences
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7368324/
https://ncbi.nlm.nih.gov/pubmed/32616572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1910456117
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