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Epigenetic etiology of intellectual disability

Other TitlesEtiologie épigénétique des déficiences intellectuelles
AuthorsBarco, Ángel
Issue Date2019
CitationNeuroFrance 2019
AbstractMany neurodevelopmental disorders associated with intellectual disability are caused by mutations in genes encoding chromatin-modifying enzymes. One of such syndromes is the Rubinstein-Taybi syndrome (RSTS, OMIM #180849), a congenital autosomal-dominant caused by hemizygous mutations in either one of the paralog genes CREBBP and EP300. The lysine acetyltransferases (KAT) CREB binding protein (CBP) and E1A binding protein (p300) encoded by these genes are both essential for the normal development of the nervous system. However, their specific roles regulating gene expression in developing and mature neurons remain poorly understood. To investigate these functions, we produced strains of inducible and tissue restricted knockout mice in which we remove either one or both proteins at different stages of neuronal development. Our experiments unveil the specific roles of these chromatin-modifying enzymes in neuronal differentiation, maturation, maintenance and plasticity.
DescriptionResumen del trabajo presentado al International Meeting NeuroFrance, celebrado en Marsella del 22 al 24 de mayo de 2019.
Appears in Collections:(IN) Comunicaciones congresos
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