Determinants of rare neurodevelopmental disorders

Principal Investigator: Prof. Maurizio Giustetto

Group members:

Maurizio Giustetto (Principal Investigator)
Riccardo Pizzo (Postdoc)
Antonia Gurgone (Postdoc)
Sunaina Devi (Postdoc)
Giuseppe Chiantia (PhD Student)
Daher Inas (PhD Student)
Andrea Macioce (Graduate research fellow)

Address and contacts:

Maurizio Giustetto, 0116707725, maurizio.giustetto@unito.it

External website link

https://orcid.org/0000-0003-1323-4060

Main research activities of the research group

We are interested in understanding how external stimuli may influence brain connectivity, plasticity and behavior using morphological, physiological and molecular approaches. My group has a recognized experience in studying neurological alterations caused by rare gene mutations using pre-clinical models. It is over fifteen years that I have being studying the molecular, synaptic and behavioural dysfunction in mouse models of neurodevelopmental and autism spectrum disorders, including CDKL5 deficiency and Rett syndrome, very severe rare genetic conditions. Recently, we deepened our attention into the characterization of a novel mouse model of CDKL5 deficiency disorder, a disease related to Rett syndrome still without a cure, with the long-term goal to serve this community of individuals and their families and to find therapeutic approaches.

List of 10 main publications

Medici G, Tassinari M, Galvani G, Bastianini S, Gennaccaro L, Loi M, Mottolese N, Alvente S, Berteotti C, Sagona G, Lupori L, Candini G, Baggett HR, Zoccoli G, Giustetto M, Muotri A, Pizzorusso T, Nakai H, Trazzi S, Ciani E. (2022) Expression of a Secretable, Cell-Penetrating CDKL5 Protein Enhances the Efficacy of Gene Therapy for CDKL5 Deficiency Disorder. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [DOIopen_in_new PMIDopen_in_new]
Gurgone A, Pizzo R, Raspanti A, Chiantia G, Devi S, Comai D, Morello N, Pilotto F, Gnavi S, Lupori L, Mazziotti R, Sagona G, Putignano E, Nocentini A, Supuran CT, Marcantoni A, Pizzorusso T, Giustetto M. (2022) mGluR5 PAMs rescue cortical and behavioural defects in a mouse model of CDKL5 deficiency disorder. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology [DOIopen_in_new PMIDopen_in_new]
Morello N, Schina R, Pilotto F, Phillips M, Melani R, Plicato O, Pizzorusso T, Pozzo-Miller L, Giustetto M. (2018) Loss of Mecp2 Causes Atypical Synaptic and Molecular Plasticity of Parvalbumin-Expressing Interneurons Reflecting Rett Syndrome-Like Sensorimotor Defects. eNeuro 5(5) [DOIopen_in_new PMIDopen_in_new]
Gioelli N, Maione F, Camillo C, Ghitti M, Valdembri D, Morello N, Darche M, Zentilin L, Cagnoni G, Qiu Y, Giacca M, Giustetto M, Paques M, Cascone I, Musco G, Tamagnone L, Giraudo E, Serini G. (2018) A rationally designed NRP1-independent superagonist SEMA3A mutant is an effective anticancer agent. Science translational medicine 10(442) [DOIopen_in_new PMIDopen_in_new]
Vicidomini C, Ponzoni L, Lim D, Schmeisser MJ, Reim D, Morello N, Orellana D, Tozzi A, Durante V, Scalmani P, Mantegazza M, Genazzani AA, Giustetto M, Sala M, Calabresi P, Boeckers TM, Sala C, Verpelli C. (2017) Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice. Molecular psychiatry 22(5) 689-702 [DOIopen_in_new PMIDopen_in_new]
Ciccarelli A, Giustetto M. (2014) Role of ERK signaling in activity-dependent modifications of histone proteins. Neuropharmacology 80 34-44 [DOIopen_in_new PMIDopen_in_new]
Paolicelli RC, Bolasco G, Pagani F, Maggi L, Scianni M, Panzanelli P, Giustetto M, Ferreira TA, Guiducci E, Dumas L, Ragozzino D, Gross CT. (2011) Synaptic pruning by microglia is necessary for normal brain development. Science (New York, N.Y.) 333(6048) 1456-8 [DOIopen_in_new PMIDopen_in_new]
Ricciardi S, Boggio EM, Grosso S, Lonetti G, Forlani G, Stefanelli G, Calcagno E, Morello N, Landsberger N, Biffo S, Pizzorusso T, Giustetto M, Broccoli V. (2011) Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. Human molecular genetics 20(6) 1182-96 [DOIopen_in_new PMIDopen_in_new]
Vara H, Onofri F, Benfenati F, Sassoe-Pognetto M, Giustetto M. (2009) ERK activation in axonal varicosities modulates presynaptic plasticity in the CA3 region of the hippocampus through synapsin I. Proceedings of the National Academy of Sciences of the United States of America 106(24) 9872-7 [DOIopen_in_new PMIDopen_in_new]
Guan Z, Giustetto M, Lomvardas S, Kim JH, Miniaci MC, Schwartz JH, Thanos D, Kandel ER. (2002) Integration of long-term-memory-related synaptic plasticity involves bidirectional regulation of gene expression and chromatin structure. Cell 111(4) 483-93 [DOIopen_in_new PMIDopen_in_new]