Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy

Mutations in the CDKL5 gene lead to an incurable rare neurological condition characterized by the onset of seizures in the first weeks of life and severe intellectual disability. Replacement gene or protein therapies could represent intriguing options, however, their application may be inhibited by...

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Detalles Bibliográficos
Autores principales: Balestra, Dario, Giorgio, Domenico, Bizzotto, Matteo, Fazzari, Maria, Ben Zeev, Bruria, Pinotti, Mirko, Landsberger, Nicoletta, Frasca, Angelisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6747535/
https://www.ncbi.nlm.nih.gov/pubmed/31450582
http://dx.doi.org/10.3390/ijms20174130

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6747535/
https://www.ncbi.nlm.nih.gov/pubmed/31450582
http://dx.doi.org/10.3390/ijms20174130

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