publication . Doctoral thesis . Other literature type . 2016

CDKL5 Disorder: a Novel Therapeutic Strategy to Improve Brain Development in a Newly Generated CDKL5 ko Mouse Model

De Franceschi, Marianna;
Open Access
  • Published: 22 Apr 2016
  • Country: Italy
Abstract
The cyclin-dependent kinase like-5 (CDKL5) disorder is a rare neurodevelopmental disease caused by mutations in the CDKL5 gene, located on the X-chromosome. The consequent unsuccessful CDKL5 protein expression in the nervous system leads to a severe encephalopathy, characterized by mental retardation, reduced motor abilities and early-onset intractable epilepsy. CDKL5 is highly expressed in the brain during the early postnatal stages of development and a recently developed Cdkl5 KO mouse model showed that CDKL5 plays a fundamental role in postnatal neurogenesis by affecting neural precursor survival and maturation, with impairment of learning, memory and motor c...
Subjects
free text keywords: BIO/09 Fisiologia
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AMS Tesi di Dottorato
Doctoral thesis . 2016
AMS Acta
Other literature type . 2017
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publication . Doctoral thesis . Other literature type . 2016

CDKL5 Disorder: a Novel Therapeutic Strategy to Improve Brain Development in a Newly Generated CDKL5 ko Mouse Model

De Franceschi, Marianna;