Via Luigi Vanvitelli 32
The X chromosome harbors the highest number of cognition-related genes identified to date and mutations in X-linked intellectual disability (X-LID) genes cause neurological disorders. The majority of the X-LID genes now identified are expressed at synapses, which are specialized connections between neurons that allow neuronal communication. The goal of out research is to understand the role of X-ILD genes within synapses and neuronal networks, and how mutations in X-LID genes affect learning and memory.
In particular, we are interested in unraveling the molecular function of PCDH19, the gene responsible for PCDH19 Female Limited Epilepsy (FLE). Mutations in the X-chromosome gene PCDH19, which encodes the cell-adhesion molecule protocadherin19, cause PCDH19 FLE, a debilitating and drug-resistant neurological condition characterized by early-onset seizures, intellectual disability and autism. Although PCDH19 has become the second most relevant gene in epilepsy after SCN1A, virtually nothing is known on the pathogenic mechanisms of PCDH19 FLE.
Our goal is to unravel PCDH19 function at the level of synapses, neurons and neuronal networks in order to provide the fundamental bases necessary for the development of PCDH19 FLE treatments.
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Folci A, Mapelli L, Sassone J, Prestori F, D'Angelo E, Bassani S* and Passafaro M. Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons. J Neurosci. 2014 Jul 2; 34(27):9088-95. doi: 10.1523/JNEUROSCI.0303-14.2014. Print ISSN: 0270-6474; Online ISSN: 1529-2401. *co-last and co-corresponding author.
Bassani S, Cingolani LA, Valnegri P, Folci A, Zapata J, Gianfelice A, Sala C, Goda Y, Passafaro M. The X-linked intellectual disability protein TSPAN7 regulates excitatory synapse development and AMPAR trafficking. Neuron. 2012 Mar 22; 73(6):1143-58. doi: 10.1016/j.neuron.2012.01.021. Epub 2012 Mar 21. ISSN: 0896-6273.
Bassani S, Zapata J, Gerosa L, Moretto E, Murru L, Passafaro M. The neurobiology of X-linked intellectual disability. Neuroscientist. 2013 Oct;19(5):541-52. doi: 10.1177/1073858413493972. Epub 2013 Jul 2. Editor: Stephen G Waxman, Yale University School of Medicine, New Haven, Connecticut USA. ISSN: 1073-8584 (print); 1089-4098 (online).
Correia SS, Bassani S, Brown TC, Lisé MF, Backos DS, El-Husseini A, Passafaro M, Esteban JA. Motor protein-dependent transport of AMPA receptors into spines during long-term potentiation. Nat Neurosci. 2008 Apr; 11(4):457-66. doi: 10.1038/nn2063. Epub 2008 Mar 2. ISSN: 1097-6256; EISSN: 1546-1726.