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Aminoglycoside drugs induce efficient read-through of CDKL5 nonsense mutations, slightly restoring its kinase activity

The X-linked CDKL5 gene codes for a kinase whose mutations have been associated with a suite of neurodevelopmental disorders generally characterized by early-onset epileptic encephalopathy and severe intellectual disability. The impact of these mutations on CDKL5 functions and brain development rema...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:RNA Biol
Päätekijät: Fazzari, Maria, Frasca, Angelisa, Bifari, Francesco, Landsberger, Nicoletta
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Taylor & Francis 2019
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6779400/
https://ncbi.nlm.nih.gov/pubmed/31232219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/15476286.2019.1632633
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