Genetic neurological disorder\Neurodegenerative diseases
SCIE.11.92
DELVING INTO THE MECHANISMS UNDERLYING HPDL-RELATED DISORDERS WITH A MULTI-MODEL APPROACH

Damiani D. * [1] , Naef V. [1] , Desbats M.A. [2] , Galatolo D. [1] , Mero S. [1] , Zampieri S. [2] , Baggiani M. [1] , Tessa A. [1] , Salviati L. [3] , Santorelli F.M. [1]

PISA [1] , PADOVA [2] , Padova [3]
SCIE.16.84
ROLE OF MYELOPEROXIDASE-MEDIATED NEUROINFLAMMATION IN ACERULOPLASMINEMIA

Ferrini B. [1] , Zanardi A. [1] , Conti A. [1] , Belloli S. [1] , Rainone P. [1] , Valtorta S. [1] , Moresco R.M. [2] , Gilberti E. [3] , De Palma G. [3] , Lana D. [4] , Giovannini M.G. [4] , Nardini I. [5] , Mori F. [5] , Zurlo G. [5] , Scali C. [5] , Caricasole A. [5] , Alessio M. * [1]

Milano [1] , Monza [2] , Brescia [3] , Firenze [4] , Gallicano (LU) [5]
SCIE.05.95
A GENOME-WIDE SCREENING IN PLURIPOTENT CELLS IDENTIFIES MTF1 AS A NOVEL SUPPRESSOR OF MUTANT HUNTINGTIN TOXICITY

Ferlazzo G.M. [1] , Gambetta A.M. [1] , Amato S. [1] , Cannizzaro N. [1] , Angiolillo S. [1] , Carbognin E. [1] , Arboit M. [1] , Diamante L. [1] , Romani P. [1] , Galimberti E. [2] , Pflug F. [2] , Luoni M. [3] , Giannelli S. [3] , Pepe G. [4] , Capocci L. [4] , Di Pardo A. [4] , Broccoli V. [3] , Leeb M. [2] , Moro E. [1] , Maglione V. [4] , Martello G. * [1]

Padua [1] , Vienna [2] , Milan [3] , Pozzilli [4]
SCIE.11.93
MODULATION OF PRE- AND POST-SYNAPTIC ADAM10 AND ITS CONTRIBUTION IN HUNTINGTON'S DISEASE CORTICO-STRIATAL DYSFUNCTION

Scolz A. , Cattaneo E. , Zuccato C. *

Milano
SCIE.11.101
INSIGHT CLN5: APPROACHING THERAPIES IN THE NEURONAL CEROID LIPOFUSCINOSIS, USING ZEBRAFISH AS A TOOL

Bernardi S. * [1] , Licitra R. [1] , Asahi O. [1] , Mero S. [1] , Galatolo D. [1] , Naef V. [1] , Gemignani F. [1] , Ratto G.M. [1] , Nardi G. [1] , Rapposelli S. [1] , Zang J. [2] , Neuhauss S. [2] , Marchese M. [1]

Pisa [1] , Zurich [2]
SCIE.05.85
TARGETING MITOCHONDRIAL METABOLISM TO PROMOTE NEURONAL MATURATION IN AHDS: DEVELOPING NEW THERAPEUTIC APPROACHES IN 3D MOUSE BRAIN MODELS

Ciarpella F. * , Pedrotti G. , Santanatoglia C. , Lucidi B. , Rossi E. , Zamfir R.G. , De Tomi E. , Malerba G. , Malpeli G. , Bottani E. , Decimo I.

Verona
SCIE.05.86
REPURPOSING CFTR CORRECTORS IN ALLAN HERNDON DUDLEY SYNDROME

Scano M. * [1] , Carotti M. [1] , Caccin P. [1] , Benetollo A. [1] , Dalla Barba F. [1] , Carelli S. [2] , Schweizer U. [3] , Cereda C. [4] , Tonduti D. [2] , Sandonà D. [1]

Padova [1] , Milano [2] , Bonn [3] , Milan [4]
SCIE.16.88
IN VITRO VALIDATION OF LENTIVIRAL VECTORS ENCODING FOR CHIMERIC MURINE AND HUMAN GALC ENZYMES TO IMPROVE THE EFFICACY OF GENE THERAPY APPROACHES FOR GLOBOID CELL LEUKODYSTROPHY

Ricca A. * [1] , Cascino F. [1] , Freschi M. [1] , Picciotti I. [1] , Valeri E. [1] , Unali G. [1] , Morena F. [2] , Martino S. [2] , Kajaste-Rudnitski A. [1] , Gritti A. [1]

Milan [1] , Perugia [2]
SCIE.05.94
METABOLISM OF POLYSIALIC ACID: NEW INSIGHT INTO PATHOLOGICAL MECHANISMS AND POTENTIAL TREATMENTS FOR HUNTINGTON'S DISEASE

Pepe G. * [1] , Capocci L. [1] , Marracino F. [1] , Moons S.J. [2] , Sönmez A. [3] , Switonska-Kurkowska K. [4] , Scarselli P. [1] , Pizzati L. [1] , Figiel M. [4] , Boltje T.J. [2] , Parlato R. [5] , Di Pardo A. [1] , Maglione V. [1]

Pozzilli [1] , Nijmegen [2] , Ulm [3] , Poznań [4] , mannheim [5]
SCIE.16.87
MENINGES AS AN OVERLOOKED PHARMACOLOGICAL TARGET FOR GLOBOID CELL LEUKODYSTROPHY

Amenta A. * [1] , Zulkifal M. [1] , Ricca A. [1] , Cascino F. [1] , Dolci S. [2] , Ciarpella F. [2] , Riva M. [3] , Decimo I. [2] , Gritti A. [1] , Bifari F. [1]

Milano [1] , Verona [2] , Rozzano [3]
SCIE.16.102
NPC INTRACELLULAR CHOLESTEROL TRANSPORTER 1 MEDIATES SARS-COV2 INFECTION

La Rosa P. * , Tiberi J. , Palermo E. , Hiscott J. , Fiorenza M.T.

Roma
SCIE.05.99
DISSECTING THE MECHANISMS OF MYELOID-TO-NEURAL ENZYMATIC CROSS-CORRECTION IN THE CONTEXT OF HEMATOPOIETIC STEM CELL GENE THERAPY FOR METACHROMATIC LEUKODYSTROPHY

Meneghini V. * [1] , Calbi V. [1] , Piccoli M. [1] , Morena F. [2] , Rossomanno I. [1] , Laface I. [1] , Ghiroldi A. [1] , Sabata M. [2] , Anastasia L. [1] , Aiuti A. [1] , Gritti A. [1]

Milan [1] , Perugia [2]
SCIE.11.98
THE ROLE OF MICROGLIA IN LAFORA DISEASE: CHARACTERISATION OF MICROGLIAL SIGNATURES AND SCREENING OF ANTI-INFLAMMATORY MOLECULES IN A NOVEL ZEBRAFISH MODEL.

Mero S. [1] , Ogi A. [1] , Licitra R. [1] , Damiani D. [1] , Ratto G.M. [1] , Nardi G. [1] , Imbrici P. [2] , Liantonio A. [2] , Santorelli F.M. [1] , Marchese M. [1] , Della Vecchia S. * [1]

Pisa [1] , Bari [2]
SCIE.11.91
REGULATING THE MITOCHONDRIAL PERMEABILITY TRANSITION PORE FOR TREATING HEREDITARY SPASTIC PARAPLEGIA TYPE 7 (SPG7)

Franchini E. * [1] , Marafelli I. [1] , Paulikova K. [1] , Giacomello M. [2] , Covello G. [2] , Berno V. [1] , Cammarota E. [1] , Sambri I. [3] , Massa F. [1] , Casari G. [1]

Milano [1] , Padova [2] , Pozzuoli-Napoli [3]
SCIE.05.103
IPS-DERIVED IRON-BURDEN ASTROCYTE AS MODELS TO APPROACH THE THERAPY FOR PKAN AND COPAN.

Ripamonti M. , Santambrogio P. , Cozzi A. , Rubio A. , Di Meo I. , Tiranti V. , Levi S. *

Milano
SCIE.11.89
ALTERATION OF LIPID METABOLISM IN THE PATHOGENESIS OF HEREDITARY SPASTIC PARAPLEGIA: UNRAVELLING THE MECHANISMS TO RECOVER CELL FUNCTION.

Sonda S. , Ongaro A. , Bertocco A. , Simonato M. , Mattarei A. , Santalla M. * , Pendin D.

Padova
SCIE.05.90
TARGETING SPASTIN PROTEIN DEGRADATION FOR HEREDITARY SPASTIC PARAPLEGIA (HSP) TREATMENT

Sardina F. [1] , Carsetti C. [1] , Fattorini G. [1] , Giorgini L. [1] , Grierson A. [2] , Cestra G. [1] , Rinaldo C. * [1]

Roma [1] , Sheffield [2]
SCIE.11.100
DEVELOPMENTAL LACK OF TREM2 CAUSES DEFECTIVE SYNAPSE STRENGTHENING IN YOUNG ADULT MICE

Morini R. * , Bizzotto M. , Hernandez Soto R. , Tagliatti E. , Filipello F. , Matteoli M.

Rozzano
SCIE.05.97
NEUROPATHOLOGICAL FEATURES OF PARKIN R275W MOUSE MODEL

Zanetti L. * [1] , Fenech A. [1] , Regoni M. [1] , Sevegnani M. [2] , Pischedda F. [2] , Domenicale C. [3] , Albanese F. [3] , Monzani E. [1] , Andrea C. [4] , Morari M. [3] , Piccoli G. [2] , Valtorta F. [1] , Sassone J. [1]

Milan [1] , Trento [2] , Ferrara [3] , Milano [4]
SCIE.11.96
DEVELOPMENT OF AN EPIGENETIC EDITING STRATEGY FOR THE TREATMENT OF HUNTINGTON'S DISEASE.

Cappelluti M.A. * , Coglot A. , Lombardo A.

Milan