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In 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.
About the author
Tommaso Patriarchi est né près de Florence, en Italie, et a obtenu son doctorat en génétique médicale à l'université de Sienne en 2015, où il a découvert de nouveaux aspects du syndrome de Rett à l'aide de techniques moléculaires. Il est actuellement chercheur postdoctoral à l'Université de Californie Davis où il continue d'étudier les fonctions cérébrales dans la santé et la maladie.
