{"product_id":"rett-syndrome-mutations-molecular-alterations-at-neuronal-synapses-von-tommaso-patriarchi","title":"Rett Syndrome mutations: molecular alterations at neuronal synapses","description":"\u003cp\u003eIn this book I describe the genetic and molecular alterations associated with the severe neurodevelopmental disorder known as Rett Syndrome (RTT), with a focus on the CDKL5 or FOXG1 genetic variants of this disorder. Currently the precise molecular function and regulation of these genes and their protein products is poorly understood. The work I present in this book offers a view of how the genetic mutations identified in RTT may relate to the molecular and functional regulation of synaptic biology. In particular, I unveiled how the interaction of CDKL5 with a key scaffolding protein at excitatory synapses (PSD-95) is regulated by neuronal activity and how mutations in the FOXG1 gene shifts the balance of excitatory\/inhibitory synaptic proteins to promote inhibitory synapse formation during embryonic development, which represents an important clue to understanding the disease mechanism of RTT.\u003c\/p\u003e\u003cdiv class=\"aw-variant-hidden-subtitle-div\" id=\"aw-variant-subtitle-9783659742132\"\u003e\u003ch3\u003e\u003c\/h3\u003e\u003c\/div\u003e","brand":"Libri","offers":[{"title":"Softcover - 9783659742132","offer_id":39449489178717,"sku":"9783659742132","price":49.9,"currency_code":"EUR","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0940\/0622\/files\/b4dfd078-ac9f-4cbf-9728-853b4cfda321.jpg?v=1757656030","url":"https:\/\/shop.autorenwelt.de\/products\/rett-syndrome-mutations-molecular-alterations-at-neuronal-synapses-von-tommaso-patriarchi","provider":"Autorenwelt Shop","version":"1.0","type":"link"}