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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Int J Mol Sci
Egile Nagusiak: Balestra, Dario, Giorgio, Domenico, Bizzotto, Matteo, Fazzari, Maria, Ben Zeev, Bruria, Pinotti, Mirko, Landsberger, Nicoletta, Frasca, Angelisa
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2019
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6747535/
https://ncbi.nlm.nih.gov/pubmed/31450582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20174130
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