Increased DNA Damage and Apoptosis in CDKL5-Deficient Neurons
Author:
Funder
CDKL5 insieme verso la cura
Publisher
Springer Science and Business Media LLC
Subject
Neuroscience (miscellaneous),Cellular and Molecular Neuroscience,Neurology
Link
http://link.springer.com/content/pdf/10.1007/s12035-020-01884-8.pdf
Reference70 articles.
1. Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, Vecchi M, Ho G et al (2013) The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet 21(3):266–273. https://doi.org/10.1038/ejhg.2012.156
2. Dale T, Downs J, Olson H, Bergin AM, Smith S, Leonard H (2019) Cannabis for refractory epilepsy in children: a review focusing on CDKL5 deficiency disorder. Epilepsy Res 151:31–39. https://doi.org/10.1016/j.eplepsyres.2019.02.001
3. Montini E, Andolfi G, Caruso A, Buchner G, Walpole SM, Mariani M, Consalez G, Trump D et al (1998) Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics 51(3):427–433. https://doi.org/10.1006/geno.1998.5391
4. Lin C, Franco B, Rosner MR (2005) CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. Hum Mol Genet 14(24):3775–3786. https://doi.org/10.1093/hmg/ddi391
5. Rusconi L, Salvatoni L, Giudici L, Bertani I, Kilstrup-Nielsen C, Broccoli V, Landsberger N (2008) CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. J Biol Chem 283(44):30101–30111. https://doi.org/10.1074/jbc.M804613200
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