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SCIE.05.2
3D MODELLING OF RARE MUSCULAR DISEASES, A POWERFUL PLATFORM FOR BASIC STUDIES AND DRUG VALIDATION

Benetollo A. * [1] , Maghin E. [1] , Carraro E. [1] , Fuoco C. [2] , Caccin P. [1] , Scano M. [1] , Carotti M. [1] , Canton M. [1] , Sachetto R. [3] , Gargioli C. [2] , Piccoli M. [1] , Sandonà D. [1]

Padova [1] , Roma [2] , Legnaro, Padova [3]
alpha-sarcoglycanopathy (LGMDR3/LGMD2D); DMD alfa-sarcoglicanopatia (LGMDR3/LGMD2D); DMD
SCIE.05.3
NATURAL HISTORY OF BECKER MUSCULAR DYSTROPHY: TOWARD TRIAL READINESS

Gorgoglione D. * [1] , Sabbatini D. [1] , D'Amico A. [2] , Bruno C. [3] , Moroni I. [4] , Previtali S. [4] , Mercuri E.M. [2] , D'Angelo M.G. [4] , Battini R. [5] , Vincenzo Nigro V. [6] , Sansone V. [4] , Berardinelli A.L. [7] , Messina S. [8] , Magri F. [4] , Ferlini A. [9] , Pini A. [10] , Mongini T. [11] , Servidei S. [2] , Bello L. [1] , Pegoraro E. [1]

Padova [1] , Roma [2] , Genova [3] , Milano [4] , Pisa [5] , Napoli [6] , Pavia [7] , Messina [8] , Ferrara [9] , Bologna [10] , Torino [11]
BECKER MUSCULAR DYSTROPHY DISTROFIA MUSCOLARE DI BECKER
SCIE.05.4
IDENTIFICATION OF NEW BIOMARKERS MONITORING DMD PATHOLOGY AND RESPONSE TO TREATMENT

Dumitras A.G. * [1] , Piccoli G. [1] , Nogara L. [1] , Kruger M. [2] , Blaauw B. [1]

Padova [1] , Cologne [2]
Duchenne Muscular Dystrophy Distrofia muscolare di Duchenne
SCIE.05.5
DISTROFIA MUSCOLARE DI DUCHENNE: CORRELAZIONE GENOTIPO-FENOTIPO

Leone D. * [1] , Berardinelli A.L. [2] , Passamano L. [3] , Masson R. [4] , D'Amico A. [1] , Comi G.P. [4] , Pini A. [5] , Battini R. [6] , Sansone V. [4] , Messina S. [7] , Bruno C. [8] , Pegoraro E. [9] , Gandossini S. [10] , Ricci F. [11] , Previtali S.C. [12] , Mercuri E. [1]

Roma [1] , Pavia [2] , Napoli [3] , Milano [4] , Bologna [5] , Calambrone (PI) [6] , Messina [7] , Genova [8] , Padova [9] , LECCO [10] , Torino [11] , MILANO [12]
DUCHENNE MUSCULAR DYSTROPHY DISTROFIA MUSCOLARE DI DUCHENNE
SCIE.05.6
CHARACTERIZING PHENOTHYPES IN NON AMBULANT DUCHENNE MUSCULAR DYSTROPHY

Leone D. * [1] , Palermo C. [1] , Berti B. [1] , Dosi C. [2] , Catteruccia M. [1] , Pedemonte M. [3] , Giannotta M. [4] , Bello L. [5] , Passamano L. [6] , Ricci F. [7] , Zanolini A. [8] , Magri F. [8] , Diella E. [9] , Russo M. [10] , Siciliano G. [11] , Frosini S. [11] , Mercuri E. [1] , Pane M. [1]

Roma [1] , Fondazione IRCSS Istituto neurologico Carlo Besta [2] , Genova [3] , Bologna [4] , Padova [5] , Napoli [6] , Torino [7] , Milano [8] , Lecco [9] , Messina [10] , Pisa [11]
DUCHENNE MUSCULAR DYSTROPHY DISTROFIA MUSCOLARE DI DUCHENNE
SCIE.05.7
CHARACTERIZATION OF THE PHENOTYPIC DIVERSITY IN DUPEX2 DUCHENNE MUSCULAR DYSTROPHY AND IDENTIFICATION OF PREDICTIVE/PROGNOSTIC MARKERS

Zambon A. [1] , Ferlini A. [2] , Albamonte E. [1] , Astrea G. [3] , Comi G. [1] , D'Amico A. [4] , D'Angelo M.G. [5] , Fiorillo C. [6] , Masson R. [1] , Messina S. [7] , Pane M. [4] , Passamano L. [8] , Pegoraro E. [9] , Pini A. [10] , Ricci F. [11] , Previtali S. * [1]

MILANO [1] , FERRARA [2] , PISA [3] , ROMA [4] , BOSISIO PARINI [5] , GENOVA [6] , MESSINA [7] , NAPOLI [8] , PADOVA [9] , BOLOGNA [10] , TORINO [11]
DUCHENNE MUSCULAR DYSTROPHY DISTROFIA MUSCOLARE DI DUCHENNE
SCIE.05.8
INHIBITION OF COMPLEMENT C1 AMELIORATES THE DYSTROPHIC MUSCLE PHENOTYPE OBSERVED IN A MOUSE MODEL OF DUCHENNE MUSCULAR DYSTROPHY

Florio F. * [1] , Vencato S. [1] , Mathur V. [2] , Andrews-Zwilling Y.S. [2] , Papa F.T. [1] , Libergoli M. [1] , Kheir E. [1] , Ghzaiel I. [1] , Yednock T. [2] , Torrente Y. [3] , Biressi S. [1]

Trento [1] , South San Francisco [2] , Milano [3]
Duchenne muscualr dystrophy Distrofia muscolare di Duchenne
SCIE.05.9
INSTRUCTING ER-PHAGY TO COUNTERACT MUSCLE DISEASES

Buonomo V. , Reggio A. , Cirillo C. , Grumati P. *

Pozzuoli
Duchenne Muscular Dystrophies Distrofia Muscolare di Duchenne
SCIE.05.10
A MITOCHONDRIAL THERAPY FOR MUSCULAR DYSTROPHIES

Castagnaro S. * [1] , Bonaldo P. [1] , Dorchies O.M. [2] , Cohen M. [3] , Bernardi P. [1]

Padova [1] , Geneva [2] , Portland (OR) [3]
DMD; UCMD DMD; UCMD
SCIE.05.11
AT THE ORIGIN OF CONGENITAL MUSCULAR DYSTROPHY: SHEDDING LIGHT ON THE TDARK PROTEINS DPM2 AND DPM3

Villa C. , Torrente Y. * , Saponaro A.

Milano
Congenital Muscular Dystrophies (CMD) Distrofie muscolari congenite
SCIE.05.14
TOWARDS PRECISION MEDICINE WITH HUMAN INDUCED PLURIPOTENT STEM CELLS FOR DYSTROPHIN ASSOCIATED CARDIOMYOPATHY

Rovina D. [1] , Pioner J.M. [2] , D'Amario D. [3] , Rabino M. [1] , Canonico F. [4] , Manzoni M. [1] , Novelli V. [1] , Sacconi L. [2] , Ferrantini C. [2] , Crea F. [4] , Pompilio G. * [1]

Milano [1] , Firenze [2] , Novara [3] , Roma [4]
Muscular Dystrophies Distrofia Muscolare
SCIE.05.16
ROLE OF STORE-OPERATED CA2+ ENTRY (SOCE) IN TUBULAR AGGREGATE MYOPATHY.

Protasi F. * [1] , Sorrentino V. [2]

Chieti [1] , Siena [2]
Tubular Aggregate myopathy Miopatia degli Aggregati Tubulari
SCIE.05.17
GENE EDITING IN MYOTONIC DYSTROPHY TYPE 1: ASSESSMENT OF EFFICIENCY, SAFETY AND THERAPEUTIC EFFECT OF CTG-REPEAT DELETION IN A MOUSE MODEL OF DISEASE

Izzo M. * [1] , Battistini J. [1] , Cardinali B. [1] , Provenzano C. [1] , Mandillo S. [1] , Golini E. [1] , Strimpakos G. [1] , Scavizzi F. [1] , Raspa M. [1] , Voellenkle C. [2] , Perfetti A. [2] , Baci D. [2] , Martelli F. [2] , Lazarevic D. [3] , Garcia-Manteiga J.M. [3] , Gourdon G. [4] , Falcone G. [1]

Monterotondo (RM) [1] , San Donato Milanese, Milan [2] , Milan [3] , Paris [4]
Myotonic Dystrophy type 1 Distrofia Miotonica di tipo 1
SCIE.05.18
TRIAL READINESS AND ENDPOINT ASSESSMENT IN CONGENITAL AND CHILDHOOD MYOTONIC DYSTROPHY: OUTCOME MEASURES AND ENDPOINT ASSESSMENTS (GUP19002)

Albamonte E. [1] , Trucco F. [1] , Di Bari A. [1] , Salmin F. [1] , Fiorillo C. [2] , D'Amico A. [3] , Ricci F. [4] , Pini A. [5] , Astrea G. [6] , Moroni I. [1] , Berardinelli A. [7] , Mercuri E. [3] , Sansone V. * [1]

Milano [1] , Genova [2] , Roma [3] , Torino [4] , Bologna [5] , Pisa [6] , Pavia [7]
Myotonic Dystrophy type 1 Distrofia miotonica tipo 1 (congenita e infantile)
SCIE.05.21
APPLICATION OF THE ESCHERICHIA COLI MODEL SYSTEM TO STUDY THE HUMAN POLYRIBONUCLEOTIDE PHOSPHORYLASE

Falchi F.A. * , Pizzoccheri R. , Alloni A. , Forti F. , Pavesi G. , Briani F.

MIlano
Mitochondrial diseases, Hereditary hearing loss Malattie mitocondriali (mitocondriopatie), Sordità ereditaria, Sindrome di Leigh
SCIE.05.23
NOVEL STRATEGIES TO BLOCK TOXICITY OF THE MUTANT ANDROGEN RECEPTOR IN SPINAL AND BULBAR MUSCULAR ATROPHY (SBMA)

Galbiati M. * [1] , Cristofani R. [1] , Chierichetti M. [1] , Rusmini P. [1] , Crippa V. [1] , Tedesco B. [1] , Ferrari V. [1] , Casarotto E. [1] , Cozzi M. [1] , Pramaggiore P. [1] , Piccolella M. [1] , Boido M. [2] , Vercelli A. [2] , Cescon M. [3] , Bonaldo P. [3] , Pennuto M. [3] , Poletti A. [1]

Milano [1] , Orbassano (TO) [2] , Padova [3]
Spinal and Bulbar Muscular Atrophy (SBMA) Atrofia Muscolare Spinale e Bulbare
SCIE.05.24
INVESTIGATION OF TRANSLATIONAL DEFECTS IN MULTIPLE MODELS OF SMA

Donzel D. * [1] , Paganin M. [1] , Lauria F. [1] , Signoria I. [2] , Sharma G. [1] , Bruno I. [1] , Van Der Hoorn D. [3] , Tebaldi T. [1] , Detering N. [4] , Huang Y.T. [3] , Marchioretto M. [1] , Pavarino G. [5] , Ruatti C. [5] , Fuller H. [6] , Claus P. [4] , Quattrone A. [1] , Inga A. [1] , Boido M. [5] , Groen E. [2] , Gillingwater T. [3] , Viero G. [1]

Trento [1] , Utrecht [2] , Edimburgh [3] , Hannover [4] , Torino [5] , Keele [6]
Spinal Muscular Atrophy Atrofia Muscolare Spinale
SCIE.05.25
SMN CIRCULAR RNAS AS POTENTIAL NEW TARGETS AND BIOMARKERS FOR THE THERAPEUTIC RESPONSE IN SPINAL MUSCULAR ATROPHY

Guerra M. * [1] , Marini A. [1] , Pitolli C. [1] , Pera M.C. [2] , Abiusi E. [2] , Tiziano F.D. [2] , Mercuri E. [2] , Pagliarini V. [1] , Sette C. [1]

00168 Rome [1] , 00168, Rome [2]
Spinal Muscular Atrophy Atrofia Muscolare Spinale
SCIE.05.26
PEROXISOMAL-MITOCHONDRIAL INTERACTION IMPINGING ON MUSCLE FUNCTION

Scalabrin M. [1] , Trani G. [1] , Gherardi G. [1] , Franco Romero A. [1] , Baschiera E. [1] , Salviati L. [1] , Jaspers Y. [2] , Kemp S. [2] , Romanello V. * [1]

Padova [1] , Amsterdam [2]
Zellweger Spectrum Disorders Spettro della Sindrome di Zellweger
SCIE.05.27
FINDING NEW TARGETS TO COUNTERACT BRAIN PROGENITOR CELLS DYSREGULATION IN AGC1 DEFICIENCY HYPOMYELINATION: A MULTIDISCIPLINARY APPROACH.

Magnifico M.C. [1] , Barile S.N. [1] , Poeta E. [2] , Balboni N. [2] , Giorgi F.M. [2] , Protti M. [2] , Mercolini L. [2] , Babini G. [2] , Viggiano L. [1] , Pignataro A. [1] , Pisano I. [1] , Porcelli V. [1] , Massenzio F. [2] , De Chirico F. [2] , Volpe G. [1] , Fiermonte G. [1] , Palmieri L. [1] , Lasorsa F.M. * [1] , Monti B. [2]

Bari [1] , Bologna [2]
AGC1-deficiency AGC1-deficiency
SCIE.05.28
DISSECTING INNATE IMMUNITY AND NUCLEIC ACID SENSING IN GENE THERAPY AND DISEASE

Mapelli A. , Castiglioni I. , Tahraoui-Bories J. , Abou-Alezz M. , Valeri E. , Merelli I. , Giordano A.M.S. , Kajaste-Rudnitski A. *

Milano
Aicardi-Goutières Syndrome Sindrome di Aicardi-Goutières
SCIE.05.37
A REDOX CYCLER-BASED THERAPEUTIC STRATEGY AGAINST MITOCHONDRIAL RESPIRATORY CHAIN DYSFUNCTION-LINKED DISEASES

Bonesso D. [1] , Mattarei A. [1] , Donadon M. [1] , Favero M. [1] , Biasutto L. [1] , Rossa A. [1] , Peruzzo R. [1] , Corrà S. [1] , Brischigliaro M. [1] , Costa R. [1] , Zoratti M. [1] , Zeviani M. [2] , Viscomi C. [1] , Szabo I. * [1]

Padova [1] , Triest [2]
Mitochondrial diseases malattie mitocondriali
SCIE.05.40
IDENTIFICATION OF DRUGS TARGETING POLG DISORDERS BY YEAST/ZEBRAFISH PRE-SCREENING

Brañas Casas R. * [1] , Gilea A.I. [2] , Facchinello N. [1] , Celeghin R. [1] , Risato G. [1] , Ravarotto S. [1] , Fiore E. [1] , Dalla Valle L. [1] , Lodi T. [2] , Tiso N. [1] , Baruffini E. [2] , Argenton F. [1]

Padova [1] , Parma [2]
POLG mitochondrial disorders Malattie mitocondriali POLG
SCIE.05.41
REGULATION OF ALTERNATIVE SPLICING OF CA2+ CHANNELS BY CRISPR/CAS9-MEDIATED GENOME EDITING AS AN ALL-PURPOSE GENETIC THERAPY FOR LOSS-OF-FUNCTION CACNA1A MUTATIONS

Jaudon F. * [1] , Guida F. [2] , Musante I. [2] , Muzzi L. [2] , Ruggeri R. [1] , Scudieri P. [2] , Zara F. [2] , Cingolani L. [1]

Trieste [1] , Genoa [2]
Episodic ataxia type 2 Atassia episodica di tipo 2
SCIE.05.44
AN UNEXPECTED ROLE OF THE NIJMEGEN BREAKAGE SYNDROME PROTEIN (NBS1) AT THE PRIMARY CILIUM AND IN HEDGEHOG SIGNALING IS IMPORTANT FOR CEREBELLAR DEVELOPMENT AND MEDULLOBLASTOMA

Fabretti F. , Nicolis Di Robilant V. , La Monica V. , Augusto M.C. , Battaglini D. , Polonara F. , Di Giulio S. , Belardinilli F. , Moretti M. , Corsi A. , De Panfilis S. , Peruzzi G. , De Smaele E. , Petroni M. , Giannini G. *

Roma
Nijmegen Breakage Syndrome Sindrome di Nijmegen
SCIE.05.51
ANALYSIS OF INSYN1 FUNCTIONING IN THE REGULATION OF INHIBITORY NEURONAL TRANSMISSION IN A MOUSE MODEL OF CDKL5 DEFICIENCY DISORDER

Valetti G. , Baldin S. , De Rosa R. , Carmone C. , Lora C. , Valastro S. , Kilstrup-Nielsen C. , Barbiero I. *

Busto Arsizio
CDKL5 deficiency disorder Malattia da deficit di CDKL5
SCIE.05.53
UNVEILING THE FUNCTIONAL ROLE OF CDKL5 AT THE INHIBITORY SYNAPSE THROUGH ITS INTERACTION WITH THE CYTOPLASMATIC COLLYBISTIN-GEPHYRIN COMPLEX

De Rosa R. * , Valastro S. , Lora C. , Randi S. , Barbiero I. , Baldin S. , Carmone C. , Kilstrup-Nielsen C.

Busto Arsizio
CDKL5 deficiency disorder (CDD) Disordine da deficit di CDKL5
SCIE.05.58
NANOBODY-MEDIATED MODULATION OF HCN1 CHANNELS IN EPILEPTIC DISORDERS

Castelli R. * , Sharifzadeh A.S. , Leone R. , Giannini G.C. , Porro A. , Saponaro A. , Moroni A.

MILANO
early infantile epileptic encephalopathy (EIEE) encefalopatia epilettica infantile precoce (EIEE)
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]
Angelman Syndrome Sindrome di Angelman
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
AP4 deficiency syndrome Sindrome da deficit di AP4
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]
Creatine Transported Deficiency Deficit del Trasportatore della Creatina
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]
TCF20-associated neurodevelopmental disorders Disturbi dello sviluppo neurologico associati a mutazioni del gene TCF20
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
Allan-Herndon-Dudley syndrome (AHDS) Sindrome di Allan Herndon Dudley
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]
MCT8 Deficiency/ALLAN HERNDON DUDLEY SYNDROME Sindrome ALLAN HERNDON DUDLEY/ Deficit di MCT8
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]
HEREDITARY SPASTIC PARAPLEGIA Paraplegia Spastica Ereditaria
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]
Huntington's disease Malattia di Huntington
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]
Huntington Disease Malattia di Huntington
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]
Autosomal Recessive Juvenile Parkinsonism (ARJP) Malattia di Parkinson a esordio giovanile (con modalità di trasmissione AR)
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]
METACHROMATIC LEUKODYSTROPHY LEUCODISTROFIA METACROMATICA
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
PKAN and CoPAN Neurodegenerazione associate a difetti di Pantotenate kinase-2 (PKAN)e difetti di COASY (CoPAN)
SCIE.05.105
PHARMACOLOGICAL MODULATION OF MYELIN SYNTHESIS AND CYTOSKELETAL REMODELLING AS A THERAPEUTIC STRATEGY FOR CMT4B NEUROPATHIES WITH ABERRANT MYELIN

Rebuffini P. , Di Guardo R. , Cipriani S. , Bolino A. *

Milano
Charcot-Marie-Tooth neuropathy Neuropatia di Charcot-Marie-Tooth
SCIE.05.107
KNOCKDOWN AND REPLACEMENT OF MFN2: A GENE THERAPY TO TREAT DOMINANTLY INHERITED PERIPHERAL NEUROPATHY CMT2A

Rizzo F. [1] , Abati E. [1] , Bono S. [1] , Ruepp M.D. [2] , Salani S. [1] , Ottoboni L. [1] , Melzi V. [1] , Cordiglieri C. [1] , Pagliarani S. [1] , De Gioia R. [1] , Anastasia A. [1] , Taiana M. [1] , Garbellini M. [1] , Lodato S. [1] , Kunderfranco P. [1] , Cazzato D. [1] , Cartelli D. [1] , Lonati C. [1] , Bresolin N. [1] , Comi G. [1] , Nizzardo M. [1] , Corti S. * [1]

Milan [1] , London [2]
Charcot-Marie-Tooth type 2A (CMT2A) Malattia di Charcot-Marie-Tooth type 2A (CMT2A)
SCIE.05.118
STUDY OF THE AMYLOIDOGENIC CONVERSION OF S52P AND V122I TRANSTHYRETIN VARIANTS BY NUCLEAR MAGNETIC RESONANCE: ELUCIDATION OF THE MOLECULAR MECHANISMS LEADING TO ATTR AMYLOIDOSIS.

Cantarutti C. * [1] , Verona G. [2] , Mimmi M.C. [3] , Mangione P. [3] , Giorgetti S. [3] , Bellotti V. [3] , Corazza A. [1]

Udine [1] , London [2] , Pavia [3]
Hereditary transthyretin amyloidosis Amiloidosi ereditaria da transtiretina
SCIE.05.124
A NOVEL NEURODEVELOPMENT SYNDROME CAUSED BY RECESSIVE VARIANTS IN THE FSD1L GENE

Serpieri V. [1] , Orsi A. * [1] , Cavan S. [1] , Mazzotta C. [1] , Celli L. [2] , De Mori R. [2] , Biagini T. [3] , Romani M. [2] , Garbelli A. [1] , Smal N. [4] , Mazza T. [5] , Sabbioneda S. [1] , Bione S. [1] , Condoluci C. [2] , Weckhuysen S. [4] , Valente E.M. [1]

Pavia [1] , Roma [2] , Foggia [3] , Anversa [4] , San Giovanni Rotondo, Foggia [5]
Nerodevelopmental syndrome Sindrome del neurosviluppo
SCIE.05.125
CRISPR-CAS9-BASED FUNCTIONAL INVESTIGATION OF THE "DARK GENOME" IN SEARCH OF PUTATIVE DOWNSTREAM EFFECTORS OF SOX2 IN NEURODEVELOPMENTAL DISEASE

Pozzolini G. [1] , Baldi R. [1] , Marenco C. [1] , Barilà S.E. [1] , Mercurio S. [1] , Testa G. [1] , Pavesi G. [1] , Esk P.C. [2] , Krenn V. [1] , Nicolis S.K. * [1]

Milano [1] , Innsbruck [2]
OMIM #206900 OMIM #206900
SCIE.05.130
INVESTIGATING THE RELATIONSHIP BETWEEN TRANSCRIPTIONAL AND REPRESSIVE CONDENSATES IN A STEM CELL-BASED KABUKI SYNDROME MODEL

Negri M.L. * , D'Annunzio S. , Lago S. , Zippo A.

Trento
Kabuki Syndrome Sindrome di Kabuki
SCIE.05.131
ROLE OF CHROMATIN CONDENSATES IN TUNING NUCLEAR MECHANO-SENSING IN KABUKI SYNDROME

D'Annunzio S. * , Zippo A.

Trento
Kabuki Syndrome Sindrome di Kabuki
SCIE.05.132
XQ26.3 DUPLICATIONS IN X-LINKED ACROGIGANTISM DISRUPT A TOPOLOGICALLY ASSOCIATING DOMAIN (TAD) AND REWIRE GPR101-ENHANCER INTERACTIONS

Franke M. [1] , Daly A. [2] , Grasso A. [3] , Tirosh A. [4] , Palmeira L. [2] , Eszter T. [3] , Faucz F. [5] , Abboud D. [2] , Petrossians P. [2] , Lania A. [3] , Beckers A. [2] , Stratakis C. [5] , Trivellin G. * [3]

Universidad Pablo de Olavide - CSIC [1] , Liege [2] , Rozzano [3] , Ramat Gan [4] , Bethesda [5]
X-linked acrogigantism (X-LAG) Acrogigantismo legato all'X
SCIE.05.138
UBIAD1 AND FERROPTOSIS: EXPLORING A CURE FOR SCHNYDER CORNEAL DYSTROPHY (SCD)

Tosi G. [1] , Lugato P. [1] , Simonato M. [2] , Cogo P. [2] , Santoro M. * [1]

Padova [1] , Udine [2]
SCHNYDER CORNEAL DYSTROPHY; SCCD DIstrofia del Cristallino di SCHNYDER
SCIE.05.143
AL AMYLOIDOSIS: GENE RESTRICTION REVEALS THE HIDDEN MOLECULAR BASIS OF AMYLOID TRANSFORMATION OF IMMUNOGLOBULIN LIGHT CHAINS

Marchese L. [1] , Mimmi M.C. [1] , Raimondi S. [1] , Mangione P.P. [1] , Corazza A. [2] , Natalello A. [3] , Ami D. [3] , Canetti D. [4] , Verona G. [4] , Malinverni S. [1] , Nocerino P. [1] , Lampis A. [1] , Brambilla F. [5] , Di Silvestre D. [5] , Mauri P. [5] , Bellotti V. [1] , Giorgetti S. [1] , Lavatelli F. * [1]

Pavia [1] , Udine [2] , Milano [3] , London [4] , Segrate [5]
AL amyloidosis Amiloidosi AL
SCIE.05.146
ADENOSINE DEAMINASE 2 DEFICIENCY: FROM THE UNDERLYING DISEASE MECHANISMS TO GENE THERAPY

Mesa Nunez C. , Barzaghi F. , Basso-Ricci L. , Bulté D. , Quaranta P. , Rigamonti C. , Pettinato E. , Jofra Hernandez R. , Romano A. , Scala S. , Aiuti A. , Mortellaro A. *

Milan
Deficiency of adenosine deaminase 2 Deficit di adenosina deaminase 2
SCIE.05.149
FVIII REGULATES ENDOTHELIAL CELL FUNCTIONALITY

Olgasi C. [1] , Cucci A. [1] , Molineris I. [2] , Assanelli S. [1] , Anselmi F. [2] , Borsotti C. [1] , Sgromo C. [1] , Lauria A. [2] , Merlin S. [1] , Walker G. [1] , Capasso P. [3] , Lombardo A. [3] , Oliviero S. [2] , Follenzi A. * [1]

Novara [1] , Torino [2] , Milan [3]
Hemophilia A Emofilia A
SCIE.05.153
RIBOSOMAL PATHOLOGIES: MECHANISTIC THERAPY OF SHWACHMAN- DIAMOND SYNDROME AND PREVENTION OF MALIGNANT COMPLICATIONS DUE TO STEM CELL MANIPULATION

Giacomo D.A. , Alessandra S. , Giada M. * , Sara R. , Paolo R. , Annarita M. , Stefania O. , Stefano B.

Milano
Shwachman-Diamond syndrome Sindrome di Shwachman-Diamond
SCIE.05.158
AGE OF ADMINISTRATION IMPACTS THE EFFICIENCY OF LENTIVIRAL VECTOR-MEDIATED HEPATOCYTE TRANSDUCTION IN VIVO AND ITS DISTRIBUTION IN THE LIVER LOBULE

Starinieri F. * , Milani M. , Beretta S. , Canepari C. , Simoni C. , Fabiano A. , Cammarota E. , Biffi M. , Russo F. , Merelli I. , Cantore A.

Milan
Liver genetic diseases Malattie genetiche del fegato
SCIE.05.159
MOLECULAR MECHANISMS COORDINATING MEMBRANE TRAFFICKING AND ION TRANSPORT IN WILSON DISEASE

Polishchuk E. * [1] , Petruzzelli R. [1] , Catalano F. [1] , Crispino R. [1] , De Cegli R. [1] , Zischka H. [2] , Di Schiavi E. [3] , Polishchuk R. [1]

Pozzuoli [1] , Munich [2] , Naples [3]
Wilson disease Malattia di Wilson
SCIE.05.161
MODELING WOLMAN DISEASE USING GENETICALLY ENGINEERED HUMAN LIVER ORGANOIDS

Anfuso B. [1] , Selvestrel D. [1] , Altieri A. [1] , Mattivi A. [2] , Fava L. [2] , Sorrentino G. * [1] , Conti L. [2]

Trieste [1] , Trento [2]
Wolman disease Malattia di Wolman
SCIE.05.163
GENOME INTEGRITY ASSESSMENT OF EDITED CD4+ LYMPHOCYTES FOR THE TREATMENT OF HYPER-IGM 1

Canarutto D. * [1] , Vavassori V. [1] , Ferrari S. [1] , Plati T. [1] , Porcellini S. [1] , Asperti C. [1] , Rovelli E. [1] , Radrizzani M. [1] , Paulis M. [2] , Villa A. [1] , Naldini L. [1]

Milan [1] , Rozzano [2]
Hyper IgM 1 Sindrome da Iper IgM 1
SCIE.05.164
NUCLEAR STABILITY AND INNATE ACTIVATION IN WASP KO MYELOID CELLS

Amadio R. * [1] , Piperno G.M. [1] , Alraies Z. [2] , Lennon-Dumenil A. [2] , Benvenuti F. [1]

Trieste [1] , Paris [2]
Wikott-Aldrich Syndrome Sindrome di Wiskott-Aldrich
SCIE.05.168
KIDNEY ORGANOIDS UNVEILED A NOVEL ROLE OF OCRL IN LIPID METABOLISM ASSOCIATED WITH THE PROGRESSIVE DECLINE OF KIDNEY FUNCTION IN LOWE SYNDROME

Testa M. , Cervellini F. , Patanella L. , Caserta L. , Polishchuk E. , De Cegli R. , De Matteis M.A. , Staiano L. *

Pozzuoli
Lowe Syndrome Sindrome di Lowe
SCIE.05.171
UNRAVELLING THE PATHOGENIC MECHANISM OF CEP83 MUTATIONS IN NEPHRONOPHTHISIS

Migliorati D. * [1] , Mattivi A. [1] , Laporte M. [2] , Guichard P. [2] , Hamel V. [2] , Fava L. [1]

Trento [1] , Geneva [2]
Nephronophthisis, Retinitis pigmentosa Nefronoftisi, retinite pigmentosa
SCIE.05.172
RESCUE OF MUTANT CFTR CHLORIDE CHANNELS BY A MIMETIC PEPTIDE TARGETING THE A-KINASE ANCHORING FUNCTION OF PI3KG

Della Sala A. * [1] , Murabito A. [1] , Mergiotti M. [1] , Capurro V. [2] , Loffreda A. [3] , Conti J. [4] , Raimondi A. [3] , Sondo E. [2] , Melotti P. [4] , Sorio C. [4] , Tacchetti C. [3] , Lukacs G. [5] , Pedemonte N. [2] , Hirsch E. [1] , Ghigo A. [1]

Torino [1] , Genova [2] , Milano [3] , Verona [4] , Montréal, Quebec [5]
Cystic fibrosis Fibrosi Cistica
SCIE.05.175
NOVEL THERAPEUTIC APPROACHES FOR AEC SYNDROME

Di Girolamo D. * [1] , D'Auria L. [1] , Urciuoli G. [1] , Antonini D. [2] , Missero C. [1]

Napoli [1] , napoli [2]
AEC SYNDROME Sindrome AEC
SCIE.05.176
A FUNCTIONAL GENOMICS FRAMEWORK TO INVESTIGATE THE MOLECULAR BASES OF RARE GENETIC DISEASES

Vaccaro L. * , Panariello F. , Grimaldi A. , Manfredi A. , Cacchiarelli D.

Pozzuoli (NA)
AEC Syndrome, EEC Syndrome Sindrome AEC, Sindrome EEC
SCIE.05.177
ALLELE-SPECIFIC CRISPR-ENGINEERED CPF1 GENOME EDITING TO TREAT OCULAR SURFACE DISORDER IN ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING (EEC) SYNDROME

Conci A. * [1] , Fabrizi A. [1] , Marini G. [1] , Paiardini A. [2] , Latella M.C. [1] , Laura D.R. [1] , De Luca M. [1]

Modena [1] , Roma [2]
EEC syndrome Sindrome EEC
SCIE.05.178
ANTIBODY GENE TRANSFER TREATMENT IMPROVES EPIDERMAL PATHOLOGY IN A MOUSE MODEL OF KID SYNDROME

Peres C. * [1] , Sellitto C. [2] , Nardin C. [1] , Putti S. [1] , Orsini T. [1] , Di Pietro C. [1] , Marazziti D. [1] , Vitiello A. [3] , Calistri A. [3] , Rigamonti M. [4] , Scavizzi F. [1] , Raspa M. [1] , Zonta F. [5] , Yang G. [5] , White T. [2] , Mammano F. [1]

Monterotondo, Rome [1] , Stony Brook, NY [2] , Padova [3] , Buguggiate, Varese [4] , Shanghai [5]
Keratitis-ichthyosis-deafness (KID) syndrome Sindrome da cheratite-ittiosi-sordità (KID)
SCIE.05.180
MIR22HG EXPRESSION PROFILE IN DIFFERENT CELL POPULATIONS FROM OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS PATIENTS

Pelassa S. * [1] , Raggi F. [1] , Rossi C. [1] , Cangelosi D. [1] , Taverna D. [2] , Civino A. [3] , Filocamo G. [4] , Bosco M.C. [1] , Consolaro A. [1]

Genova [1] , Turin [2] , Lecce [3] , Milano [4]
Oligoarticular Juvenile Idiopathic Arthritis Artrite Idiopatica Giovanile Oligoarticolare
SCIE.05.181
LINGLE-CELL TRANSCRIPTOMICS AND LINEAGE TRACING TO ENABLE PRECISION MEDICINE IN LYNCH-DERIVED COLORECTAL NEOPLASIAS

Franchini M. , Arnese R. , Gambardella G. *

Napoli
Lynch syndrom Sindrome di Lynch
SCIE.05.182
TREATMENT WITH THE CARDIOLIPIN-TARGETED PEPTIDE ELAMIPRETIDE IMPROVES CARDIAC MITOCHONDRIAL DYSFUNCTION IN A MURINE MODEL OF BARTH SYNDROME

Lobasso S. * [1] , Russo S. [1] , De Rasmo D. [2] , Signorile A. [1] , Corcelli A. [1]

Bari [1] , BARI [2]
Barth Syndrome Sindrome di Barth
SCIE.05.184
LIVER-DIRECTED PROMOTERLESS GENE TARGETING WITHOUT THE USE OF NUCLEASES AS A POTENTIAL THERAPY FOR FABRY DISEASE

Saxena H. * [1] , Biasizzo J. [2] , Domenis R. [2] , Zentilin L. [1] , Dardis A. [2] , Muro A.F. [1]

Trieste [1] , Udine [2]
Fabry disease Malattia di Fabry
SCIE.05.186
EXPLOITING REGULATORY T-CELL METABOLIC REPROGRAMMING AND VASCULAR TROPISM AS THERAPEUTIC TOOLS FOR FAMILIAL HYPERCHOLESTEROLAEMIA

Bonacina F. * , Moregola A. , Norata G.D.

Milan
Familial Hypercholesterolemia Ipercolesterolemia familiare
SCIE.05.188
FREE CYTOSOLIC-MITOCHONDRIAL DNA TRIGGERS A POTENT TYPE-I INTERFERON RESPONSE IN KEARNS-SAYRE PATIENTS COUNTERACTED BY MOFETIL MYCOPHENOLATE

Di Nottia M. , Caiello I. , De Benedetti F. , Dionisi-Vici C. , Bertini E. , Carrozzo R. , Martinelli D. *

Roma
Kearns-Sayre Syndrome Sindrome di Kearns-Sayre
SCIE.05.190
MICE LACKING TRPML1 PRESENT KIDNEY DISEASE

Giuseppina G. * , Sandro M. , Diego M.

Napoli
ML4 Mucolipidosi tipo 4
SCIE.05.191
BONE DEFECTS AND CROSS-CORRECTION IN MPSIH HSPC-GT

Santi L. * [1] , Crippa S. [1] , Capo V. [1] , Penna S. [1] , De Ponti G. [1] , Alberti G. [1] , Berti M. [1] , Consiglieri G. [1] , Tucci F. [1] , Riminucci M. [2] , Corsi A. [2] , Barbero A. [3] , Lopa S. [1] , Martin I. [3] , Moretti M. [1] , Gentner B. [1] , Aiuti A. [1] , Villa A. [1] , Bernardo M.E. [1]

Milan [1] , Rome [2] , Basel [3]
Mucopolysaccharidosis type I - Hurler Syndrome Mucopolisaccaridosi di tipo 1 - Sindrome di Hurler
SCIE.05.192
AMYLOID AGGREGATION AND LYSOSOMAL MEMBRANE DYNAMICS IN SANFILIPPO DISEASE

Monaco A. * , Galiano L. , Giaccio M. , Rubino R. , Fusco G. , De Simone A. , Fraldi A.

Napoli
Mucopolysaccharidoses Type III Mucopolisaccaridosi di tipo III
SCIE.05.197
A PRO-INFLAMMATORY SIGNATURE IN PATIENTS WITH LYSOSOMAL STORAGE DISORDERS DOES NOT PREVENT THE INDUCTION OF OF TOLEROGENIC CELLS TO PREVENT UNWONTED IMMUNE RESPONSES IN ENZYME REPLACEMENT THERAPY.

Fortunato M. [1] , Tomasoni D. [1] , Fecarotta S. [2] , Gasperini S. [3] , Bernado M.E. [1] , Parenti G. [2] , Aiuti A. [1] , Passerini L. [1] , Gregori S. * [1]

Milan [1] , Naples [2] , Monza [3]
Mucopolysaccharidosis, Pompe Disease Mucopolisaccaridosi, Malattia di Pompe
SCIE.05.198
INDUCTION OF AUTOPHAGY PATHWAY AS NEW THERAPEUTIC OPTION TO PREVENT THE SYSTEMIC PATHOLOGY IN MULTIPLE SULFATASE DEFICIENCY (MSD)

Cacace V. , Sofia M. , Rossi B. , Strollo S. , Brunetti-Pierri N. , Ballabio A. , Medina D.L. , Sorrentino N.C. *

POZZUOLI (NA)
Multiple Sulfatase Deficiency (MSD) Deficit Multiplo di Solfatasi (MSD)
SCIE.05.203
TELETHON UNDIAGNOSED DISEASES PROGRAM: THE 2022 MUTATION UPDATE

Torella A. * [1] , Morleo M. [1] , Pinelli M. [2] , Spampanato C. [2] , Zanobio M. [2] , Zeuli R. [2] , Tirozzi A. [2] , Onore M.E. [2] , Bonolis V. [2] , Mutarelli M. [1] , De Riso G. [2] , Varavallo A. [1] , Banfi S. [1] , Brunetti N. [1] , Telethon Undiagnosed Disease Program S.G. [1] , Nigro V. [1]

Pozzuoli [1] , Naples [2]
Undiagnosed diseases Malattie senza diagnosi
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]
MEOAL Miopatia mitocondriale episodica con o senza atrofia ottica e leucoencefalopatia reversible (MEOAL)
SCIE.11.29
EXPERIMENTAL GENE THERAPY IN MITOCHONDRIAL DISORDERS

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

Padova
Mitochondrial Complex I deficiency Deficienza di complesso I mitocondriale
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]
Mitochondrial complex IV deficiency, nuclear type Deficit del complesso IV mitocondriale, tipo nucleare 17
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]
Congenital central Hypoventilation Syndrome Sindrome da Ipoventilazione Centrale Congenita
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
Glut1 deficiency syndrome Sindrome da deficit di Glut1
SCIE.11.35
LEADING GLUT1 TOWARDS THE PLASMA MEMBRANE

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

Pozzuoli
GLUT1 Deficiency Syndrome Sindrome da deficit di GLUT1
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
LEIGH SYNDROME Sindrome di Leigh
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
Mitochondrial disease Malattia mitocondriale
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]
Mitochondrial Diseases Malattie mitocondriali
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]
Posterior Column Ataxia and Retinitis Pigmentosa Atassia del cordone posteriore e retinite pigmentosa
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
ARSACS ARSACS
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
Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Atassia spastica autosomica recessiva di Charlevoix-Saguenay (ARSACS)
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)
Spinocerebellar ataxia type 2 (SCA2) L'Atassia Spinocerebellare di tipo 2 (SCA2)
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]
Autosomal recessive spinocerebellar ataxia Atassia spinocerebellare autosomica recessiva
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]
Friedreich and spinocerebellar ataxias Atassie di Friedreich e spinocerebellari
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]
CDKL5 Deficiency Disorder Disordine da deficit di CDKL5
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]
CDKL5 deficiency disorder La sindrome da deficit di CDKL5
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
CDKL5 Deficiency Disorder Malattia da deficit di CDKL5
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]
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9 ENCEFALOPATIA EPILETTICA E DELLO SVILUPPO 9; DEE9
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
Dravet syndrome Sindrome di Dravet
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]
Epilepsy, Cognitive Deficits Epilessia, difetti cognitivi
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
Epilepsy Epilessia
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
Paroxysmal kinesigenic dyskinesia Discinesia parossistica kinesigenica
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]
22Q11.2 DELETION SYNDROME MICRODELEZIONE 22Q11.2
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]
22q11 deletion syndrome Sindrome da microdelezione 22q11
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
CLCN3-7 related neurodevelopmental disorders Disturbi dello sviluppo neurologico correlati a CLCN3-7
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]
Fragile X Syndrome Sindrome dell'X Fragile
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]
Fragile X Syndrome Sindrome dell'X Fragile
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]
Intellectual Disability X-linked, MRX46 Disabilità Intellettiva X-linked, MRX46
SCIE.11.72
DETAILING AND MODELING DENDRITIC SPINE PRUNING PATHWAYS AND COGNITION IN RAB39B XLID MOUSE MODEL

Francesca Z. , Patrizia D.A. *

Milano
X-linked Intellectual Disabilities Disabilità intellettiva legata al cromosoma X
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
Rett syndrome Sindrome di Rett
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]
Rett Syndrome Sindrome di Rett
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]
Rett syndrome Sindrome di Rett
SCIE.11.79
FUNCTIONAL STUDY ON A NEW PHARMACOLOGICAL APPROACH IN THE RETT SYNDROME

Cambria C. * , Antonucci F.

Milan
Rett Syndrome Sindrome di Rett
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]
Rett Syndrome Sindrome di Rett
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]
Williams Beuren Syndrome Sindrome di Williams
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
Hereditary Spastic Paraplegia Paraplegia Spastica Ereditaria
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]
HEREDITARY SPASTIC PARAPLEGIA TYPE 7 (SPG7) Paraplegia Spastica Ereditaria di tipo 7
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]
SPASTIC PARAPLEGIA TYPE 83 Paraparesi Spastica Familiare
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
Huntington's Disease Malattia di Huntington
SCIE.11.96
DEVELOPMENT OF AN EPIGENETIC EDITING STRATEGY FOR THE TREATMENT OF HUNTINGTON'S DISEASE.

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

Milan
Huntington's Disease Corea di Huntington
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]
Lafora Disease Malattia di Lafora
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
Nasu-Hakola Disease Malattia di Nasu-Hakola
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]
Neuronal ceroid lipofuscinosis 5 Ceroidolipofuscinosi Neuronale 5
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]
Charcot-Marie-Tooth neuropathy malattia di Charcot-Marie-Tooth
SCIE.11.106
BOOSTING HSPB3 TO PREVENT NEUROMUSCULAR DEGENERATION IN PERIPHERAL NEUROPATHIES

Carra S. *

Modena
Hereditary Sensory and Motor Neuropathy Neuropatia motoria e sensoriale ereditaria
SCIE.11.108
PHARMACOLOGICAL DEGRADERS FOR THE CELLULAR PRION PROTEIN

Innocenti N. * , Biasini E.

Trento
Prion Diseases Malattie da Prioni
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]
Fibrodysplasia Ossificans Progressiva (FOP) Fibrodisplasia Ossificante Progressiva (FOP)
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]
Osteogenesis Imperfecta Osteogenesi Imperfetta
SCIE.11.112
CHARACTERIZING THE MOLECULAR FUNCTIONS OF TENT5/FAM46 PROTEINS

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

Milano
Osteogenesis imperfecta, SLE, Charcot-Marie-Tooth. Osteogenesi Imperfetta, SLE, Charcot-Marie-Tooth.
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
Autosomal recessive osteopetrosis (ARO) Osteopetrosi autosomica recessiva (ARO)
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]
Cardiomyopathy Dilated 1A (LMNA-Cardiomyopathy) Cardiomiopatia Dilatativa 1A
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]
Long QT Syndrome LQT2, LQT3, LQT8 Sindrome del QT Lungo di tipo 2, tipo3, tipo8
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
Joubert syndrome Sindrome di Joubert
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
neuro-developmental syndrome due to CAMK2b gene Disabilità intellettiva non sindromica autosomico dominante
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]
Phelan-McDermid Syndrome Sindrome di Phelan-McDermid
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]
Pitt-Hopkins Syndrome Sindrome di Pitt-Hopkins
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]
Prader-Willi Syndrome Sindrome di Prader-Willi
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]
Inherited Retinal Disease Retinopatie Ereditarie
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
Autosomal Dominant Optic Atrophy Atrofia ottica dominante
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]
Retinitis Pigmentosa, RP Retinite Pigmentosa, RP
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]
Autosomal dominant Retinitis Pigmentosa Retinite Pigmentosa Autosomica Dominante
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]
Retinitis Pigmentosa, Mucopolysaccharidosis typeVI Retinite Pigmentosa, Mucopolisaccaridosi di tipo VI
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
Stargardt disease Sindrome di Stargardt
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]
CIPO, VSCM, MMIHS Pseudo-Ostruzione Intestinale Cronica
SCIE.11.141
THE BIOMOLECULAR CASCADE UNDERGOING CELL CONTRACTION IN PRESENCE OF VSCM CAUSATIVE MUTANTS

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

Genova
Visceral Myopathy Miopatia viscerale
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
Visceral Myopathy miopatia viscerale
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)
Beta-thalassemia, Sickle Cell Disease Beta talassemia, Anemia Falciforme
SCIE.11.145
CELL-BASED THERAPY FOR CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA

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

Bergamo
CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA Porpora trombotica trombocitopenica congenita
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
Glanzmann Thrombasthenia Trombastenia di Glanzmann
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
Hemophilia Emofilia
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]
Sickle Cell Disease Drepanocitosi o Falcemia
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
Wiskott-Aldrich Syndrome, ADA-SCID, MLD, MPSIH Sindrome Wiskott-Aldrich, ADA-SCID, Leucodistrofia Metacromatica, Mucopolisaccaridosi tipo I Hurler
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
MLD, WAS, b-Thal MLD, WAS, b-Thal
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]
Wilson disease Malattia di Wilson
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]
Hyper-IgE syndrome Sindrome da iper-IgE
SCIE.11.167
DECIPHERING DYSFUNCTIONAL METABOLIC PATHWAYS IN NEPHROPATIC CYSTINOSIS

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

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

Di Malta C. *

Pozzuoli (Napoli)
AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE RENE POLICISTICO AUTOSOMICO DOMINANTE
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]
Autosomal Dominant Tubulointerstitial Kidney Disea Malattia Renale Tubulointerstiziale Autosomica Dominante
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
Primary Ciliary Diskinesia Discinesia Ciliare Primaria
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
vascular Ehlers-Danlos syndrome (vEDS) sindrome di Ehlers-Danlos vascolare (vEDS)
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
Fabry Disease Cardiomiopathy Malattia di Anderson Fabry
SCIE.11.185
CELL-BASED ASSAYS OF GLA GENETIC VARIANTS OF UNKNOWN SIGNIFICANCE

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

Pozzuoli (NA)
Fabry Disease Malattia di Fabry
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]
Gaucher disease Malattia di Gaucher
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
Progressive familiar intrahepatic cholestasis Colestasi intraepatica familiare progressiva di tipo 2
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
Mucopolysaccharidosis-IIIA Mucopolisaccaridosi di tipo IIIA
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
Mucopolysaccharidosis-IIIA Mucopolisaccaridosi di tipo IIIA
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
Mucopolysaccharidosis type IVA (Morquio Disease) Mucopolisaccaridosi tipo IVA (Sindrome di Morquio)
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]
Mucopolysaccharidosis IVA, IVB and a-mannosidosis Mucopolissacaridosi IVA, IVB e a-mannosidosi
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]
Rare genetic diseases in general Malattie genetiche rare in generale
SCIE.16.1
P2X7 RECEPTOR ANTAGONIST REDUCES FIBROSIS AND INFLAMMATION IN A MOUSE MODEL OF ALPHA-SARCOGLYCAN MUSCULAR DYSTROPHY

Principi E. * [1] , Raffaghello L. [1] , Bruno C. [1] , Baratto S. [1] , Pintus S. [1] , Panicucci C. [1] , Bruzzone S. [1] , Benzi A. [1] , Gazzerro E. [2] , Scudieri P. [1] , Antonini F. [1] , Del Zotto J. [1]

Genova [1] , Berlin [2]
ALPHA-SARCOGLYCAN MUSCULAR DYSTROPHY alfasarcoglicanopatia
SCIE.16.12
SPERMIDINE AS NEW CANDIDATE FOR THE TREATMENT OF COL6 MYOPATHIES

Gambarotto L.