Rett Syndrome mutations: molecular alterations at neuronal synapses - Patriarchi, Tommaso
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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…mehr

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Produktbeschreibung
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.
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Autorenporträt
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.