Altered NMDAR signaling underlies autistic-like features in mouse models of CDKL5 deficiency disorder
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry
Link
http://www.nature.com/articles/s41467-019-10689-w.pdf
Reference53 articles.
1. Kalscheuer, V. M. et al. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am. J. Hum. Genet. 72, 1401–1411 (2003).
2. Weaving, L. S. et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am. J. Hum. Genet. 75, 1079–1093 (2004).
3. Tao, J. et al. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am. J. Hum. Genet. 75, 1149–1154 (2004).
4. Wang, I. -T. J. et al. Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice. Proc. Natl Acad. Sci. USA 109, 21516–21521 (2012).
5. Amendola, E. et al. Mapping pathological phenotypes in a mouse model of CDKL5 disorder. PLoS. ONE. 9, e91613–12 (2014).
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