Genetic neurological disorder\Intellectual Disabilities
SCIE.16.75
TARGETING OLIGODENDROGLIAL CELL DYSFUNCTIONS TO TREAT COGNITIVE DEFECTS AND EPILEPSY IN PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY-17 (MCPH17) MODELS

Khastkhodaei Ardakani M. [1] , Bonato M. [1] , Lorenzati M. [1] , Parolisi R. [1] , Vannini E. [2] , Pallavicini G. [1] , Di Cunto F. [1] , Buffo A. [1] , Boda E. * [1]

Orbassano (Turin) [1] , Pisa [2]
SCIE.11.63
PERINATAL OXYTOCIN AMELIORATES BEHAVIORAL AND IMMUNOLOGICAL TRAJECTORIES IN 22Q11.2 DELETION SYNDROME MICE CLOSING BRAIN BARRIERS

Castellani G. [1] , Ciampoli M. [1] , Chini B. [2] , Papaleo F. * [1]

Genova [1] , Milano [2]
SCIE.11.67
MECHANISMS AND DISEASE MODELS OF NEURODEVELOPMENTAL DISORDERS INVOLVING CLC ANION TRANSPORTERS

Coppola M.A. , Zuccoloni P. , Zanardi I. , Picco C. , Barbieri R. , Gavazzo P. , Sbrana F. , Pusch M. *

Genova
SCIE.11.71
RAC GTPASE IN INTELLECTUAL DISABILITY: PRECLINICAL OPPORTUNITIES FROM INTERFERING WITH A RAC1 SPECIFIC PROTEIN::PROTEIN INTERACTION

Liaci C. [1] , Prandi L. [1] , Rando S. [1] , Contini A. [2] , Coppa C. [2] , Conti L. [3] , Merlo G. * [1]

TORINO [1] , MILANO [2] , TRENTO [3]
SCIE.11.78
THE INTERPLAY BETWEEN HPCAL4 AND MECP2: IDENTIFICATION AND CHARACTERIZATION OF A NOVEL PUTATIVE TARGET FOR RETT SYNDROME THERAPY

Pezzini S. [1] , Arcari A. [1] , Sandakly J. [1] , Scandella L. [1] , Francolini M. [1] , Fraviga E. [2] , Pozzi D. [2] , Landsberger N. * [1]

Milan [1] , Rozzano (Mi) [2]
SCIE.05.66
THE TETRASPANIN TSPAN5 REGULATES AMPARS EXOCYTOSIS BY INTERACTING WITH THE AP-4 COMPLEX

Moretto E. , Passafaro M. *

CNR, Institute of Neuroscience, Milan 20129, Italy
SCIE.11.80
BASE AND PRIME EDITING OF DNA AS NEW PERSONALIZED TREATMENT FOR RETT DISEASE

Tonetto E. [1] , Landsberger N. [2] , Liu D. [3] , Pinotti M. [1] , Balestra D. * [1]

Ferrara [1] , Milan [2] , Cambridge [3]
SCIE.11.72
DETAILING AND MODELING DENDRITIC SPINE PRUNING PATHWAYS AND COGNITION IN RAB39B XLID MOUSE MODEL

Francesca Z. , Patrizia D.A. *

Milano
SCIE.11.77
TARGETING RETT SYNDROME HYPEREXCITABILITY THROUGH ENHANCING GLUTAMATERGIC HOMEOSTASIS

Forastieri C. * [1] , Romito E. [1] , Toffolo E. [1] , Paplekaj A. [1] , Sala M. [2] , Rusconi F. [1] , Battaglioli E. [1]

Milan [1] , Monza [2]
SCIE.16.82
FUNCTIONAL DISSECTION OF PRC2-DEPENDENT DYSREGULATION IN WEAVER SYNDROME THROUGH CORTICAL BRAIN ORGANOIDS AND CRISPR/CAS9 GENOME EDITING SYSTEM

Pezzali M. * [1] , Trattaro S. [1] , Vitriolo A. [1] , Sebastiani S. [1] , Cheroni C. [1] , Lo Riso P. [1] , Choufani S. [2] , Gabriele M. [1] , Pozzu D. [1] , Hughes J. [3] , Gibson W. [4] , Weksberg R. [2] , Testa G. [1] , Lopez Tobon A. [1]

Milan [1] , Toronto [2] , Turin [3] , Vancouver [4]
SCIE.16.74
DISSECTING THE PATHOMOLECULAR MECHANISMS OF PRR12 GENE INACTIVATION LEADING TO NEURODEVELOPMENTAL AND EYE ABNORMALITIES.

Alessia M. [1] , Mosca R. [2] , Martini D. [1] , Luoni M. [2] , Digregorio M. [1] , Andreazzoli M. [1] , Broccoli V. * [2]

Pisa [1] , Milano [2]
SCIE.11.69
MODELING FMR1 EXPRESSION DYNAMIC DURING FIRST PHASES OF NEURODEVELOPMENT USING FXS IPSC-DERIVED 3D CORTICAL BRAIN ORGANOIDS

D'Ercole M. * [1] , Laterza C. [1] , Cesare E. [1] , Stuart H. [2] , Gagliano O. [1] , Angiolillo S. [1] , Zorzan I. [3] , Polli R. [1] , Martello G. [1] , Murgia A. [1] , Elvassore N. [1]

Padova [1] , London [2] , Cambridge [3]
SCIE.11.76
NEW VECTOR DESIGNING TO INCREASE EFFICACY AND SAFETY OF GENE-BASED THERAPIES FOR RETT SYNDROME

Luoni M. , Giannelli S. , Bellinazzi B. , Rossi M. , Broccoli V. *

Milano
SCIE.05.68
CREATINE DEFICIENCY SYNDROME: NOVEL INSIGHT INTO BRAIN FUNCTION AND THERAPEUTIC STRATEGIES

Montani C. [1] , Ghirardini E. [2] , Di Vetta F. [2] , Dadà L. [2] , Calugi F. [2] , Iovino L. [2] , Sagona G. [2] , Galbusera A. [1] , De Guzman E. [1] , Gozzi A. [1] , Baroncelli L. * [2]

Rovereto [1] , Pisa [2]
SCIE.05.65
MECHANISMS OF SYNAPTIC DYSFUNCTION IN THE ANGELMAN SYNDROME

Baronchelli F. * [1] , Biagioni M. [2] , Di Nunzio M. [2] , Erreni M. [2] , Folci A. [1] , Fossati M. [1]

Milan [1] , Rozzano (MI) [2]
SCIE.11.64
BOOSTING MITOCHONDRIAL BIOGENESIS DURING POSTNATAL DEVELOPMENT TO PREVENT COGNITIVE DEFICITS IN 22Q11 DELETION SYNDROME.

Anthony L. [1] , Eva D.O.F. [1] , Federica C. [2] , Laura F. * [2] , Nicole D. [1] , Daniela R. [3] , Claudia B. [1] , Manuel M. [1] , Franck P. [4] , Paola B. [1]

Lausanne [1] , Rome [2] , Pavia [3] , New York [4]
SCIE.11.79
FUNCTIONAL STUDY ON A NEW PHARMACOLOGICAL APPROACH IN THE RETT SYNDROME

Cambria C. * , Antonucci F.

Milan
SCIE.05.81
IDENTIFICATION OF POSSIBLE THERAPEUTIC TARGETS TO RESCUE NEURONAL AND SYNAPTIC DYSFUNCTIONS CAUSED BY DELETIONS AND MUTATIONS OF THE TCF20 INTELLECTUAL DISABILITY GENE

Vinci E. [1] , Beretta S. [1] , Catanese A. [2] , Zippo A. [1] , Boeckers T. [2] , Verpelli C. [1] , Sala C. * [1]

Vedano al Lambro [1] , Ulm [2]
SCIE.16.73
EXPLORING THE EPIGENETIC REWIRING ASSOCIATED TO RLF MUTATIONS AS A DRIVER OF INTELLECTUAL DISABILITY

Banfi F. [1] , Luoni M. [1] , Belloni F. [1] , Bellini E. [1] , Jackson A. [2] , Banka S. [2] , Broccoli V. [1] , Sessa A. * [1]

Milan [1] , Manchester [2]
SCIE.11.83
SINGLE-CELL MULTIOMIC DISSECTION OF ELECTROPHYSIOLOGICAL CORRELATES OF WILLIAMS-BEUREN- AND 7Q11.23 MICRODUPLICATION- SYNDROMES

Vitriolo A. * [1] , Pezzali M. [1] , Trattaro S. [1] , Finazzi V. [1] , Capocefalo D. [1] , Shyti R. [1] , Germain P. [2] , Testa G. [1]

Milano [1] , Zurich [2]
SCIE.11.70
NEW THERAPEUTIC STRATEGIES FOR THE FRAGILE X SYNDROME

Pedini G. * [1] , Cencelli G. [1] , Rosina E. [1] , Mercaldo V. [2] , Gentile A. [1] , Pacini L. [1] , Farace M.G. [1] , Achsel T. [2] , Bagni C. [1]

Rome [1] , Lausanne [2]