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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Bibliografski detalji
Izdano u:Proc Natl Acad Sci U S A
Glavni autori: García-Rodríguez, Raquel, Hiller, Monika, Jiménez-Gracia, Laura, van der Pal, Zarah, Balog, Judit, Adamzek, Kevin, Aartsma-Rus, Annemieke, Spitali, Pietro
Format: Artigo
Jezik:Inglês
Izdano: National Academy of Sciences 2020
Teme:
Biological Sciences
Online pristup: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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