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CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N. Mari F, et al. Among authors: colombo e. Hum Mol Genet. 2005 Jul 15;14(14):1935-46. doi: 10.1093/hmg/ddi198. Epub 2005 May 25. Hum Mol Genet. 2005. PMID: 15917271
Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation.
Colombo E, Collombat P, Colasante G, Bianchi M, Long J, Mansouri A, Rubenstein JL, Broccoli V. Colombo E, et al. J Neurosci. 2007 Apr 25;27(17):4786-98. doi: 10.1523/JNEUROSCI.0417-07.2007. J Neurosci. 2007. PMID: 17460091 Free PMC article.
775 results