2348 Lafora disease premature termination codons (PTCs) are likely candidates for suppression by aminoglycosides

OBJECTIVES/SPECIFIC AIMS: A small molecule therapy is within reach to treat a molecular mechanism known to result in thousands of fatal diseases. For 10% of patients with a genetic disease, a nonsense/STOP mutation/premature termination codon (PTC) is the underlying cause of their malady. PTCs prema...

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Dades bibliogràfiques
Publicat a:J Clin Transl Sci
Autors principals: Simmons, Zoe R., Sherwood, Amanda, Li, Selena, Garneau-Tsodikova, Sylvie, Gentry, Matthew
Format: Artigo
Idioma:Inglês
Publicat: Cambridge University Press 2018
Matèries:
Basic/Translational Science/Team Science
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6799663/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/cts.2018.90
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