SESSIONE: Poster session 2
14/03/2023 11:30 - 13:00
Riva del Garda, Centro Congressi SALA: Palavela

Poster session 2

SCIE.11.20
MITOCHONDRIAL MYOPATHY ASSOCIATED TO FDX2 MUTATIONS: A CROSSROADS OF FES PROTEIN BIOGENESIS AND COENZYMEE Q BIOSINTHESYS

Costantini P. * [1] , Ciofi-Baffoni S. [2] , Doni D. [1] , Grifagni D. [2]

Padova [1] , Florence [2]
SCIE.11.29
EXPERIMENTAL GENE THERAPY IN MITOCHONDRIAL DISORDERS

Corrà S. , Balmaceda V. , Cerutti R. , Brischigliaro M. , Viscomi C. , Zeviani M. *

Padova
SCIE.11.30
PATHOLOGICAL MOLECULAR MECHANISMS UNDERLYING APOPT1/COA8 LOSS OF FUNCTION

Brischigliaro M. [1] , Cabrera-Orefice A. [2] , Franchin C. [1] , Roverso M. [1] , Bogialli S. [1] , Pastore P. [1] , Arrigoni G. [1] , Arnold S. [3] , Viscomi C. [1] , Zeviani M. [1] , Fernandez-Vizarra E. * [1]

Padova [1] , Nijmegen [2] , Cologne [3]
SCIE.11.31
THE LNCRNA PHOX2B-AS1 IN THE PATHOGENESIS AND AS POTENTIAL DRUG TARGET IN CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (CCHS)

Di Lascio S. * [1] , Cuadros Gamboa A.L. [1] , Bertocchi M. [1] , Benfante R. [2] , Fornasari D. [1]

Milan [1] , Vedano al Lambro (MB) [2]
SCIE.11.34
GLUT1 DEFICIENCY: NEW THERAPEUTIC STRATEGIES TO INCREASE GLUCOSE TRANSPORT ACROSS THE BLOOD BRAIN BARRIER (BBB)

Cappato S. * , Castagnola V. , Bocciardi R. , Baldassari S. , Scudieri P. , Musante I. , Benfenati F. , Zara F.

Genova
SCIE.11.35
LEADING GLUT1 TOWARDS THE PLASMA MEMBRANE

Petrosino S. , Gentile D. , Esposito M. , Grumati P. *

Pozzuoli
SCIE.11.36
THERAPEUTIC EFFICACY OF MIR-181A/B DOWN REGULATION IN LEIGH SYNDROME

Pezzella N. , Tammaro R. , Ferrante L. , Massaro F. , Indrieri A. , Franco B. *

POZZUOLI, NAPLES
SCIE.11.38
MITMED: IDENTIFICATION AND CHARACTERIZATION OF NEW DISEASE GENES FOR MITOCHONDRIAL DISORDERS

Volta S. , Brischigliaro M. , Fernandez-Vizarra E. , Salviati L. , Zeviani M. , Viscomi C. *

Padova
SCIE.11.39
AAV-MEDIATED INHIBITION OF MIR-181A/B AS GENE-INDEPENDENT THERAPEUTIC TOOL FOR MITOCHONDRIAL DISEASES

Volpe M. [1] , Massa F. [1] , Barbato S. [1] , Tammaro R. [1] , De Risi M. [1] , Saurino R. [1] , Molinari M. [1] , Banfi S. [1] , Carrella S. [2] , Surace E.M. [2] , De Leonibus E. [1] , Franco B. [1] , Indrieri A. * [1]

Pozzuoli [1] , Napoli [2]
SCIE.11.45
THE ALTERATION OF MITOCHONDRIAL ENERGETIC METABOLISM CONTRIBUTES TO THE PATHOGENESIS OF POSTERIOR COLUMN ATAXIA AND RETINITIS PIGMENTOSA

Bertino F. [1] , Grasso E. [1] , Kopecka J. [1] , Hentschel A. [2] , Bellini S. [1] , Barutta F. [1] , Bonora M. [3] , Pinton P. [3] , Roos A. [4] , Riganti C. [1] , Tolosano E. [1] , Chiabrando D. * [1]

Torino [1] , Dortmund [2] , Ferrara [3] , Essen [4]
SCIE.11.46
CORTICOSPINAL TRACT MICROSTRUCTURAL INTEGRITY AND ITS CORRELATION WITH CLINICAL AND MOLECULAR BIOMARKERS: A PROFILOMETRY MRI STUDY TO IDENTIFY IN-VIVO BIOMARKERS OF DISEASE SEVERITY IN ARSACS

Cocozza S. *

Naples
SCIE.11.47
DANIO RERIO AS A MODEL TO REVEAL NEW INSIGHT OF RETINAL DEFECTS IN ARSACS

Galatolo D. , Licitra R. , Damiani D. , Ogi A. , Marchese M. , Mero S. , Santorelli F.M. , Naef V. *

Pisa
SCIE.11.48
DEVELOPMENT OF AN ALLELE-SPECIFIC EPIGENETIC SILENCING PLATFORM FOR THE TREATMENT OF SCA2

Coglot A. * , Cappelluti M. , Migliara A. , Valsoni S. , Merelli I. , Lombardo A.

Milan (MI)
SCIE.11.49
PPAR GAMMA AGONIST PIOGLITAZONE RESTORES MITOCHONDRIAL QUALITY CONTROL IN FIBROBLASTS OF PITRM1 DEFICIENT PATIENTS

Di Donfrancesco A. [1] , Berlingieri C. [1] , Giacomello M. [2] , Bindoff L. [3] , Segel R. [4] , Rembaum P. [4] , Santorelli F. [5] , Viscomi C. [2] , Zeviani M. [2] , Ghezzi D. [1] , Brunetti D. * [1]

Milan [1] , Padua [2] , Bergen [3] , Jerusalem [4] , Pisa [5]
SCIE.11.50
EXPLAINABLE ARTIFICIAL INTELLIGENCE AND FRACTAL DIMENSION OF BRAIN MRI IN FRIEDREICH ATAXIA AND SCAS

Marzi C. [1] , Lai M. [2] , Scheda R. [2] , Orsolini S. [2] , Mascalchi M. [1] , Harding I. [3] , Diciotti S. * [2]

Florence [1] , Cesena [2] , Melbourne [3]
SCIE.11.52
IN VIVO CROSS-CORRECTION ENHANCES THE EFFICACY OF GENE THERAPY IN A MOUSE MODEL OF CDKL5 DEFICIENCY DISORDER

Medici G. * [1] , Tassinari M. [1] , Galvani G. [1] , Gennaccaro L. [1] , Loi M. [1] , Mottolese N. [1] , Candini G. [1] , Giustetto M. [2] , Pizzorusso T. [3] , Hiroyuki N. [4] , Trazzi S. [1] , Ciani E. [1]

Bologna [1] , Torino [2] , Firenze [3] , Portland [4]
SCIE.11.54
CHARACTERIZATION OF THE GUT MICROBIOTA IN CDKL5 DEFICIENCY DISORDER TO REVEAL NOVEL BIOMARKERS AND THERAPEUTIC STRATEGIES

Xynomilakis O. [1] , Damiani F. [1] , Ottaviano E. [2] , Putignano E. [1] , Cornuti S. [1] , Tognozzi A. [1] , Pizzorusso T. [1] , Vignoli A. [2] , Borghi E. [2] , Tognini P. * [1]

Pisa [1] , Milan [2]
SCIE.11.55
INTEGRATED COMPUTATIONAL AND EXPERIMENTAL APPROACHES TO DRUG REPOSITIONING FOR RARE GENETIC DISORDERS

Di Bernardo D. , Criscuolo S. * , Failli M. , De Cegli R.

Napoli
SCIE.11.56
PCDH19-RELATED NEURODEVELOPMENTAL SYNDROME: UNRAVELING THE PLAYERS OF NEURONAL HYPEREXCITABILITY IN SEARCH OF NEW THERAPEUTIC TARGETS

Mazzoleni S. * [1] , Busnelli M. [1] , Piazza R.G. [2] , Bassani S. [1]

Vedano al Lambro [1] , Milano [2]
SCIE.11.57
TEMPORAL MANIPULATION OF SCN1A GENE EXPRESSION IN DRAVET SYNDROME

Salamone A. , Valassina N. , Brusco S. , Di Berardino C. , Mainardi M. , Becca M.V. , Broccoli V. , Colasante G. *

Milan
SCIE.11.59
NOVEL INSIGHTS ON CHLORIDE REGULATIONS: IMPLICATION FOR DISEASE ETIOLOGY AND TREATMENT

Marika A. [1] , Brondi M. [1] , Di Soccio A. [1] , Garavaldi T. [2] , Landi S. [2] , Nardi G. [2] , Pasquini G. [2] , Pracucci E. [2] , Lodovichi C. * [1] , Ratto G.M. [2]

Padova [1] , Pisa [2]
SCIE.11.60
RNA-BASED RESCUE OF INHIBITION AS POTENTIAL TREATMENT FOR GENETIC GABRA1-DEPENDENT EPILEPSY

Nencini S. * , Bruno M. , Stefania G. , Enrica P. , Andrea B.

Genova
SCIE.11.62
INTERACTION OF PRRT2 WITH NA+ CHANNELS: PATHOGENETIC BASIS AND NEW TARGETS FOR THE CURE OF PRRT2-ASSOCIATED PAROXYSMAL DISORDERS

Franchi F. , Sterlini B. , Corradi B. , Alberini G. , Ravasenga T. , Romei A. , Michetti C. , Maragliano L. , Baldelli P. , Corradi A. , Valente P. , Benfenati F. *

Genova
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.11.64
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.11.67
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.11.69
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.11.70
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]
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.11.72
DETAILING AND MODELING DENDRITIC SPINE PRUNING PATHWAYS AND COGNITION IN RAB39B XLID MOUSE MODEL

Francesca Z. , Patrizia D.A. *

Milano
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.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.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.11.79
FUNCTIONAL STUDY ON A NEW PHARMACOLOGICAL APPROACH IN THE RETT SYNDROME

Cambria C. * , Antonucci F.

Milan
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.11.83
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.11.89
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.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.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.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.11.96
DEVELOPMENT OF AN EPIGENETIC EDITING STRATEGY FOR THE TREATMENT OF HUNTINGTON'S DISEASE.

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

Milan
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.11.100
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.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.11.104
MECHANISMS OF AXONAL DEGENERATION IN LATE ONSET CMT1B NEUROPATHIES: MOLECULAR PATHWAYS AND THERAPEUTIC APPROACHES

Claessens A. [1] , Shackleford G.G. [1] , De Blasis R. [1] , Ferri C. [1] , Baldi R. [1] , Valenzano S. [1] , Del Carro U. [1] , Crivellari L. [1] , Pisciotta C. [1] , Saveri P. [1] , Feltri L. [2] , Wrabetz L. [2] , Pareyson D. [1] , D'Antonio M. * [1]

Milan [1] , Buffalo [2]
SCIE.11.106
BOOSTING HSPB3 TO PREVENT NEUROMUSCULAR DEGENERATION IN PERIPHERAL NEUROPATHIES

Carra S. *

Modena
SCIE.11.108
PHARMACOLOGICAL DEGRADERS FOR THE CELLULAR PRION PROTEIN

Innocenti N. * , Biasini E.

Trento
SCIE.11.110
"SEARCHING NEW MOLECULAR TARGETS IN FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (FOP): IS THE AUTOPHAGY SIGNALLING A GOOD CANDIDATE?".

Coculo L. [1] , Wits M. [2] , Sessa R.L. [1] , Volpe E. [1] , Ciolfi S. [1] , Rinaldo S. [1] , Cutruzzola' F. [1] , Trisciuoglio D. [1] , Sanchez-Duffhues G. [2] , Stagni V. * [1]

Roma [1] , Leiden [2]
SCIE.11.111
HOW LACK OF TRIMERIC INTRACELLULAR CATION CHANNEL B AFFECTS BONE

Contento B. [1] , Garibaldi N. [1] , Palladino E. [1] , Sala A. [1] , Brini M. [2] , Sonntag S. [3] , Forlino A. [1] , Besio R. * [1]

Pavia [1] , Padova [2] , Bonn [3]
SCIE.11.112
CHARACTERIZING THE MOLECULAR FUNCTIONS OF TENT5/FAM46 PROTEINS

Resnati M. , Riva E. , Materozzi M. , Cenci S. , Milan E. *

Milano
SCIE.11.114
EX VIVO EXPANSION OF HEMATOPOIETIC STEM AND PROGENITOR CELLS (HSPC) FOR GENE THERAPY

Zonari E. * , Barcella M. , Volpin M. , Naldini M. , Desantis G. , Merelli I. , Montini E. , Gentner B.

Milan
SCIE.11.117
DEVELOPMENT OF SUBTYPE-SPECIFIC CARDIOMYOCYTE MODELS TO UNRAVEL DISTINCT CELLULAR MECHANISMS OF LMNA-CARDIOMYOPATHY

Crasto S. [1] , Mazzola M. [2] , Salvarani N. [1] , Peano C. [1] , Albano C. [2] , Puccio S. [1] , Occhetta P. [3] , Di Pasquale E. * [1]

UOS Milan [1] , Rozzano (Milan) [2] , Milan [3]
SCIE.11.119
HERG POTASSIUM CHANNEL ENHANCERS AS A NOVEL THERAPEUTIC APPROACH FOR LONG QT SYNDROME

Tavazzani E. * [1] , Kumawat A. [2] , Trancuccio A. [1] , Kukavica D. [1] , Mazzanti A. [1] , Denegri M. [1] , Milani G. [3] , Cavalluzzi M.M. [3] , Lentini G. [3] , Camilloni C. [2] , Priori S.G. [1]

Pavia [1] , Milan [2] , Bari [3]
SCIE.11.123
JOUBERT SYNDROME: BEYOND CONVENTIONAL MENDELIAN GENETICS

D'Abrusco F. * , Serpieri V. , Pollara L. , Mazzotta C. , Giorgio E. , Sottile V. , Bianca L. , De Gregorio E. , Stellato T. , Marando V.A. , Mortarini G. , Taccagni C.M. , Tondinelli S. , Valente E.M.

Pavia
SCIE.11.126
GENERATION OF PATIENT-DERIVED IPSCS FOR UNDERSTANDING THE PATHOGENIC MECHANISMS UNDERLYING ALTERED NEURONAL FUNCTION ASSOCIATED WITH CAMK2B GENE MUTATIONS

Borghi R. * , Trivisano M. , Specchio N. , Tartaglia M. , Compagnucci C.

Roma
SCIE.11.127
ALTERED CORTICAL SENSORY PROCESSING AND FUNCTIONAL CONNECTIVITY IN SHANK3B+/- MICE

Montagni E. * [1] , Martello A. [1] , Pavone F.S. [1] , Allegra Mascaro A.L. [2]

Sesto Fiorentino [1] , Pisa [2]
SCIE.11.128
MODELING PITT-HOPKINS SYNDROME AND NEW PATHOGENETIC VARIANTS OF TCF4 BY GENE EDITING: A STEP FORWARD TOWARD PRECISION MEDICINE (HOPEFOR)

Orefice M. * [1] , Salamone G. [1] , Savoli S. [1] , De Sarlo M. [1] , Vitobello A. [2] , Ori M. [1]

Pisa [1] , Dijone [2]
SCIE.11.129
THE ROLE OF ANCIENT GENE VARIANTS IN PRADER-WILLI SYNDROME PATHOPHYSIOLOGY

Polito A. * [1] , Serani A. [2] , Tsushima H. [2] , Tucci V. [2]

Padova [1] , Genova [2]
SCIE.11.133
MIR-181A/B DOWNREGULATION: A MUTATION-INDEPENDENT THERAPEUTIC APPROACH FOR INHERITED RETINAL DISEASES

Di Guida M. [1] , Petrogiannakis G. [1] , Capasso D. [1] , Brandi P. [1] , Garcia-Piqueras J. [1] , Ruiz-Ceja K.A. [1] , Negueruela S. [1] , Pizzo M. [1] , Capolongo F. [1] , Karali M. [2] , Franco B. [1] , Indrieri A. [1] , Carrella S. [1] , Banfi S. * [1]

Pozzuoli (NA) [1] , Naples [2]
SCIE.11.134
IDENTIFICATION OF DRUGS FOR AUTOSOMAL DOMINANT OPTIC ATROPHY (ADOA): FROM ADOA RCGS MODELS TO MICROPARTICLE-BASED DRUG DELIVERY IN AN ADOA MOUSE MODEL

Lacombe A. * , Mendonca A.P. , Rampado R. , Caliceti P. , Salmaso S. , Scorrano L.

Padova
SCIE.11.135
PIGMENT EPITHELIUM-DERIVED FACTOR (PEDF) AND DERIVED PEPTIDES AS THERAPEUTIC AGENTS FOR INHERITED RETINAL DEGENERATION

Bighinati A. [1] , Adani E. [1] , Piano I. [2] , Gargini M.C. [2] , Ottonelli I. [1] , Tosi G. [1] , Becerra S.P. [3] , Marigo V. * [1]

Modena [1] , Pisa [2] , Bethesda [3]
SCIE.11.136
MODULATING AUTOPHAGY: A NOVEL GENE-INDEPENDENT THERAPEUTIC TREATMENT FOR ADRP

Intartaglia D. * [1] , Giamundo G. [2] , Salierno F. [1] , Conte I. [1]

Pozzuoli (Naples) [1] , Napoli [2]
SCIE.11.137
THERAPEUTIC HOMOLOGY-INDEPENDENT TARGETED INTEGRATION IN RETINA AND LIVER

Esposito F. * [1] , Dell'Aquila F. [1] , Ferla R. [1] , Padmanaban A. [1] , Lupo M. [1] , Llado M. [1] , Tornabene P. [1] , Sureda Horrach P. [1] , Auricchio S. [1] , Marrocco E. [1] , Dell'Anno M. [1] , Nusco E. [1] , Trapani I. [1] , Surace E.M. [2] , Manfredi A. [2] , Di Filippo L. [1] , Torella A. [1] , Peluso G. [1] , Cacchiarelli D. [1] , Nigro V. [1] , Auricchio A. [3]

Pozzuoli [1] , Napoli [2] , Naples [3]
SCIE.11.139
MUTATION-INDEPENDENT GENOME EDITING APPROACHES FOR TREATMENT OF STARGARDT DISEASE

Pugni E. , Tenderini E. , Cascone A. , Razzano F. , Mazzaro N. , Lupo M. , Casciello M. , Marrocco E. , Trapani I. *

Pozzuoli
SCIE.11.140
AN IN VIVO MODEL OF INTRACTABLE R257C-ACTG2 VISCERAL MYOPATHY TO STUDY PATHOGENESIS AND TO IDENTIFY NEW DISEASE TARGETS

Galeone A. [1] , Viti F. [2] , Ceccherini I. [2] , Vaccari T. * [3]

Lecce [1] , Genova [2] , Milano [3]
SCIE.11.141
THE BIOMOLECULAR CASCADE UNDERGOING CELL CONTRACTION IN PRESENCE OF VSCM CAUSATIVE MUTANTS

Picco C. , Magrassi R. , Nizzari M. , Viti F. *

Genova
SCIE.11.142
CELLULAR AND PROTEOMIC APPROACHES TO STUDY THE ROLE OF ACTG2 MUTATION-MEDIATED MISFOLDING AND PROTEIN AGGREGATION AS DRUGGABLE TARGETS IN VISCERAL MYOPATHY

Salena M.T. , Bartolucci M. , Santamaria G. , Sondo E. , Bachetti T. , Viti F. , Petretto A. , Pedemonte N. , Ceccherini I. *

Genova
SCIE.11.144
THE HUMAN DELTA-GLOBIN GENE AS A THERAPEUTIC TOOL FOR ?ETA-HEMOGLOBINOPATHIES. POST GWAS TARGET VALIDATION AND EVALUATION OF MOLECULES IN PRECLINICAL MODELS.

Marongiu M.F. , Porcu S. , Simbula M. , Manchinu M.F. , Perseu L. , Poddie D. , Vaccargiu S. , Caria C. , Faà V. , Ristaldi M.S. *

Monserrato (CA)
SCIE.11.145
CELL-BASED THERAPY FOR CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA

Trionfini P. * , Romano E. , Varinelli M. , Longaretti L. , Tomasoni S.

Bergamo
SCIE.11.147
CHARACTERIZATION OF ENDOTHELIAL FUNCTION AND ANGIOGENESIS IN GLANZMANN THROMBASTHENIA: POSSIBLE ROLE IN GASTROINTESTINAL ANGIODYSPLASIA

Giglio E. , Tondi F. * , Gresele P. , Bury L.

Perugia
SCIE.11.150
LONG TERM EFFECTIVENESS OF REPLACEMENT THERAPIES IN HEMOPHILIA: A MATTER OF SPECIFIC DENDRITIC CELL SUBSETS?

Gargaro M. , Scalisi G. , Manni G. , Mencarelli G. , Ricciuti D. , Pieroni B. , Sarnari F. , Fallarino F. *

Perugia
SCIE.11.154
IDENTIFICATION OF DRUGGABLE PRO-RESOLVING MECHANISMS IN SICKLE CELL DISEASE

Federti E. * [1] , Mattè A. [1] , Recchiuti A. [2] , Mattoscio D. [2] , De Franceschi L. [1]

Verona [1] , Chieti [2]
SCIE.11.156
HUMAN HEMATOPOIETIC STEM/PROGENITOR CELL TRAFFICKING AND CLONAL TRACKING

Quaranta P. * , Basso-Ricci L. , Jofra Hernandez R. , Pacini G. , Seffin L. , Rilievo A.A. , Barcella M. , Monti I. , Giannelli S. , Darin S. , Gattillo S. , Di Micco R. , Ostuni R. , Ciceri F. , Montini E. , Gentner B. , Bernardo M.E. , Merelli I. , Ferrua F. , Cicalese M.P. , Scala S. , Aiuti A.

Milan
SCIE.11.157
DECONVOLUTING THE DYNAMICS OF HEMATOPOIETIC RECONSTITUTION IN GENE THERAPY PATIENTS

Calabria A. , Spinozzi G. , Cesana D. , Benedicenti F. , Pais G. , Scala S. , Lidonnici M.R. , Scaramuzza S. , Albertini A. , Esposito S. , De Mattia F. , Canarutto D. , Tucci F. , Omrani M. , Dionisio F. , Giannelli S. , Marktel S. , Calbi V. , Ferrua F. , Gentner B. , Ciceri F. , Naldini L. , Ferrari G. , Aiuti A. , Montini E. *

Milan
SCIE.11.160
NUCLEASE-FREE TARGETED INTEGRATION OF A PROMOTERLESS MINI-ATP7B CONFERS PROLIFERATIVE ADVANTAGE TO EDITED HEPATOCYTES AND CORRECTS WILSON DISEASE

Padula A. [1] , Spinelli M. [2] , Nusco E. [1] , Capolongo F. [1] , Campione S. [2] , Perna C. [1] , Bastille A. [3] , Ericson M. [3] , Wang C. [3] , Zhang S. [3] , Amoresano A. [2] , Nacht M. [3] , Piccolo P. * [1]

Pozzuoli [1] , Napoli [2] , Lexington, MA [3]
SCIE.11.162
CHARACTERIZATION OF HYPER-IGE CD4+ T LYMPHOCYTES AND THEIR RESPONSES TO OPPORTUNISTIC PATHOGENS.

Giorgia M. * [1] , Vasco C. [1] , Clemente F. [1] , Maioli S. [1] , Carelli E. [1] , Sarnicola M.L. [1] , Crosti M. [1] , Baselli L. [2] , Dellepiane R. [2] , Carrabba M. [2] , Abrignani S. [1] , Geginat J. [1]

Milan [1] , Milano [2]
SCIE.11.167
DECIPHERING DYSFUNCTIONAL METABOLIC PATHWAYS IN NEPHROPATIC CYSTINOSIS

Cillo M. , Esposito A. , Agostinis R. , Brunetti M.E. , Napolitano G. *

Napoli
SCIE.11.169
DISSECTING THE ROLE OF TFEB IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Di Malta C. *

Pozzuoli (Napoli)
SCIE.11.170
ROLE OF QUALITY CONTROL IN THE EARLY SECRETORY COMPARTMENT IN AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE

Schaeffer C. [1] , Tesoriero C. [2] , Cratere M. [1] , Ghirotto F. [2] , Vettori A. [2] , Rampoldi L. * [1]

Milan [1] , Verona [2]
SCIE.11.174
CRISPR/CAS-MEDIATED BASE EDITING: A PROMISING TOOL FOR DISEASE MODELING AND PERSONALIZED MEDICINE APPROACHES FOR PRIMARY CILIARY DYSKINESIA

Gabellini C. * , Lai M. , Perotti I. , De Carli A. , Maj D. , Erica Lucia C. , Pistello M. , Pifferi M.

Pisa
SCIE.11.179
VASCULAR EHLERS-DANLOS SYNDROME DERMAL FIBROBLASTS' TRANSCRIPTOME: PATHOMECHANISMS AND TARGETABLE MOLECULES

Ritelli M. , Cinquina V. , Bertini V. , Zoppi N. , Venturini M. , Colombi M. , Chiarelli N. *

Brescia
SCIE.11.183
DOWN REGULATION OF MANNOSE-6-PHOSPHATE RECEPTORS IN FABRY DISEASE CARDIOMYOPATHY. POTENTIAL TARGET FOR ENZYME THERAPY ENHANCEMENT

Frustaci A. * , Verardo R. , Scialla R. , Bagnato G. , Verardo M. , Alfarano M. , Russo M.A.

Rome
SCIE.11.185
CELL-BASED ASSAYS OF GLA GENETIC VARIANTS OF UNKNOWN SIGNIFICANCE

Giaquinto L. * , Santoro M. , De Matteis M.A.

Pozzuoli (NA)
SCIE.11.187
DUAL TARGET APPROACH FOR THE TREATMENT OF GAUCHER DISEASE: NEW ANTIOXIDANT PH-SENSITIVE PHARMACOLOGICAL CHAPERONES

Davighi M.G. [1] , Tanini D. [1] , Rinaldi M. [2] , Matassini C. [1] , Goti A. [1] , Cardona F. [1] , Morrone A. [2] , Clemente F. * [1]

via della Lastruccia 3-13, 50019 Sesto Fiorentino [1] , Viale Pieraccini n. 24, 50139 Firenze [2]
SCIE.11.189
EVALUATING THE EFFICACY OF A GENE EDITING STRATEGY FOR PROGRESSIVE FAMILIAR INTRAHEPATIC CHOLESTASIS TYPE 2 (PFIC-2)

Simoni C. * , Barbon E. , Starinieri F. , Cappelluti M.A. , Negri C. , Biffi M. , Sanvito F. , Lombardo A. , Cantore A.

Milano
SCIE.11.193
PHARMACOLOGICAL STIMULATION OF AUTOPHAGY TO RESCUE PROTEINOPATHY AND COGNITIVE DECLINE IN MUCOPOLYSACCHARIDOSIS-IIIA

Somma C. * , Monaco M. , Capuozzo A. , Medina D.L. , De Risi M. , De Leonibus E.

Pozzuoli
SCIE.11.194
EARLY DEVELOPMENT OF MPS-IIIA DOPAMINERGIC NEURONS: AT THE NEXUS OF BEHAVIOR CHANGES AND THERAPY

Cusimano L. * , De Risi M. , Bujanda Cundin X. , Pizzo M. , Fecarotta S. , Parenti G. , De Leonibus E.

Napoli
SCIE.11.195
GENERATION, SELECTION AND CHARACTERISATION OF A NOVEL MOUSE MODEL FOR MUCOPOLYSACCHARIDOSIS TYPE IVA

Berti M. * , Crippa S. , Jofra-Hernandez R. , Santi L. , De Ponti G. , Alberti G. , Mancino M. , Basini T. , Scala S. , Quaranta P. , Basso-Ricci L. , Visigalli I. , Zambimini G. , Norata R. , Rocchi M. , Sanvito F. , Bolamperti S. , D'Adamo P. , Spinelli A. , Aiuti A. , Bernardo M.E.

Milan
SCIE.11.196
AN INNOVATIVE PLATFORM APPROACH FOR THE DEVELOPMENT OF EX-VIVO GENE THERAPIES FOR THE TREATMENT OF LYSOSOMAL STORAGE DISEASES WITH SKELETAL INVOLVEMENT

Crippa S. * [1] , Scala S. [1] , Forni C. [2] , Quaranta P. [1] , Alberti G. [1] , Berti M. [1] , Santi L. [1] , De Ponti G. [1] , Jofra-Hernandez R. [1] , Basso-Ricci L. [1] , Rilievo A. [1] , Visigalli I. [1] , Paoli A. [3] , Consiglieri G. [1] , Tucci F. [1] , Albertini P. [1] , Morrone A. [3] , Parini R. [1] , Gentner B. [1] , Aiuti A. [1] , Bernardo M.E. [1]

Milan [1] , Rome [2] , Firenze [3]
SCIE.11.201
TELETHON NETWORK OF GENETIC BIOBANKS: A KEY SERVICE FOR DIAGNOSIS AND RESEARCH ON RARE DISEASES

Casareto L. * [1] , Coviello D. [2] , Zecchinelli A. [3] , Renieri A. [4] , Pegoraro E. [5] , Sciacco M. [3] , Andreetta F. [3] , Merla G. [6] , Nigro V. [7] , Garavaglia B. [3] , Sangiorgi L. [1]

Bologna [1] , Genova [2] , Milano [3] , Siena [4] , Padova [5] , San Giovanni Rotondo FG [6] , Napoli [7]