Abstracts

Risultati: 203

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

Benetollo Alberto * [1] , Maghin Edoardo [1] , Carraro Eugenia [1] , Fuoco Claudia [2] , Caccin Paola [1] , Scano Martina [1] , Carotti Marcello [1] , Canton Marcella [1] , Sachetto Roberta [3] , Gargioli Cesare [2] , Piccoli Martina [1] , Sandonà Dorianna [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 Domenico * [1] , Sabbatini Daniele [1] , D'AMICO ADELE [2] , BRUNO CLAUDIO [3] , Moroni Isabella [4] , Previtali Stefano [4] , Mercuri Eugenio Maria [2] , D'Angelo Maria Grazia [4] , BATTINI ROBERTA [5] , Vincenzo Nigro Vincenzo [6] , SANSONE VALERIA [4] , BERARDINELLI ANGELA LUCIA [7] , Messina Sonia [8] , Magri Francesca [4] , Ferlini Alessandra [9] , Pini Antonella [10] , Mongini Tiziana [11] , Servidei Serenella [2] , Bello Luca [1] , PEGORARO ELENA [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 Ana Georgia * [1] , Piccoli Giorgia [1] , Nogara Leonardo [1] , Kruger Marcus [2] , Blaauw Bert [1]

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

Leone Daniela * [1] , BERARDINELLI ANGELA LUCIA [2] , PASSAMANO LUIGIA [3] , MASSON RICCARDO [4] , D'AMICO ADELE [1] , COMI GIACOMO PIETRO [4] , Pini Antonella [5] , BATTINI ROBERTA [6] , SANSONE VALERIA [4] , MESSINA SONIA [7] , BRUNO CLAUDIO [8] , PEGORARO ELENA [9] , GANDOSSINI SANDRA [10] , RICCI FEDERICA [11] , PREVITALI STEFANO CARLO [12] , MERCURI EUGENIO [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 Daniela * [1] , Palermo Concetta [1] , Berti Beatrice [1] , Dosi Claudia [2] , Catteruccia Michela [1] , Pedemonte Marina [3] , Giannotta Melania [4] , Bello Luca [5] , PASSAMANO LUIGIA [6] , RICCI FEDERICA [7] , Zanolini Alice [8] , Magri Francesca [8] , Diella Eleonora [9] , Russo Massimo [10] , Siciliano Gabriele [11] , Frosini Silvia [11] , Mercuri Eugenio [1] , Pane Marika [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 ALBERTO [1] , Ferlini Alessandra [2] , ALBAMONTE EMILIO [1] , Astrea Guja [3] , Comi Giacomo [1] , D'AMICO ADELE [4] , D'ANGELO MARIA GRAZIA [5] , Fiorillo Chiara [6] , MASSON RICCARDO [1] , MESSINA SONIA [7] , Pane Marika [4] , PASSAMANO LUIGIA [8] , PEGORARO ELENA [9] , Pini Antonella [10] , RICCI FEDERICA [11] , Previtali Stefano * [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 Francesca * [1] , Vencato Sara [1] , Mathur Vidhu [2] , Andrews-Zwilling Yaisa S [2] , Papa Filomena T [1] , Libergoli Michela [1] , Kheir Eyemen [1] , Ghzaiel Imen [1] , Yednock Ted [2] , Torrente Yvan [3] , Biressi Stefano [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 Viviana , Reggio Alessio , Cirillo Carmine , Grumati Paolo *

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

Castagnaro Silvia * [1] , Bonaldo Paolo [1] , Dorchies Olivier M. [2] , Cohen Michael [3] , Bernardi Paolo [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 Chiara , Torrente Yvan * , Saponaro Andrea

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 Davide [1] , Pioner Josè Manuel [2] , D'Amario Domenico [3] , Rabino Martina [1] , Canonico Francesco [4] , Manzoni Martina [1] , Novelli Valeria [1] , Sacconi Leonardo [2] , Ferrantini Cecilia [2] , Crea Filippo [4] , Pompilio Giulio * [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 Feliciano * [1] , Sorrentino Vincenzo [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 Mariapaola * [1] , Battistini Jonathan [1] , Cardinali Beatrice [1] , Provenzano Claudia [1] , Mandillo Silvia [1] , Golini Elisabetta [1] , Strimpakos Georgios [1] , Scavizzi Ferdinando [1] , Raspa Marcello [1] , Voellenkle Christine [2] , Perfetti Alessandra [2] , Baci Denisa [2] , Martelli Fabio [2] , Lazarevic Dejan [3] , Garcia-Manteiga Jose Manuel [3] , Gourdon Geneviève [4] , Falcone Germana [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 Emilio [1] , Trucco Federica [1] , Di Bari Alessandra [1] , Salmin Francesca [1] , Fiorillo Chiara [2] , D'AMICO ADELE [3] , RICCI FEDERICA [4] , Pini Antonella [5] , Astrea Guja [6] , Moroni Isabella [1] , Berardinelli Angela [7] , Mercuri Eugenio [3] , SANSONE VALERIA * [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 Federica Anna * , Pizzoccheri Roberto , Alloni Andrea , Forti Francesca , Pavesi Giulio , Briani Federica

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 Mariarita * [1] , Cristofani Riccardo [1] , Chierichetti Marta [1] , Rusmini Paola [1] , Crippa Valeria [1] , Tedesco Barbara [1] , Ferrari Veronica [1] , Casarotto Elena [1] , Cozzi Marta [1] , Pramaggiore Paola [1] , Piccolella Margherita [1] , Boido Marina [2] , Vercelli Alessandro [2] , Cescon Matilde [3] , Bonaldo Paolo [3] , Pennuto Maria [3] , Poletti Angelo [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 Deborah * [1] , Paganin Martina [1] , Lauria Fabio [1] , Signoria Ilaria [2] , Sharma Gaurav [1] , Bruno Ilaria [1] , Van der Hoorn Dinja [3] , Tebaldi Toma [1] , Detering Nora [4] , Huang Yu Ting [3] , Marchioretto Marta [1] , Pavarino Gianna [5] , Ruatti Cristina [5] , Fuller Heidi [6] , Claus Peter [4] , Quattrone Alessandro [1] , Inga Alberto [1] , Boido Marina [5] , Groen Ewout [2] , Gillingwater Thomas [3] , Viero Gabriella [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 Marika * [1] , Marini Alberto [1] , Pitolli Consuelo [1] , Pera Maria Carmela [2] , Abiusi Emanuela [2] , Tiziano Francesco Danilo [2] , Mercuri Eugenio [2] , Pagliarini Vittoria [1] , Sette Claudio [1]

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

Scalabrin Marco [1] , Trani Giulia [1] , Gherardi Gaia [1] , Franco Romero Anais [1] , Baschiera Elisa [1] , Salviati Leonardo [1] , Jaspers Yorrick [2] , Kemp Stephan [2] , Romanello Vanina * [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 Maria Chiara [1] , Barile Simona Nicole [1] , Poeta Eleonora [2] , Balboni Nicola [2] , Giorgi Federico Manuel [2] , Protti Michele [2] , Mercolini Laura [2] , Babini Giorgia [2] , Viggiano Luigi [1] , Pignataro Antonella [1] , Pisano Isabella [1] , Porcelli Vito [1] , Massenzio Francesca [2] , De Chirico Francesca [2] , Volpe Giacomo [1] , Fiermonte Giuseppe [1] , Palmieri Luigi [1] , Lasorsa Francesco Massimo * [1] , Monti Barbara [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 Alessandro , Castiglioni Ilaria , Tahraoui-Bories Julie , Abou-Alezz Monah , Valeri Erika , Merelli Ivan , Giordano Anna Maria Sole , Kajaste-Rudnitski Anna *

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 Daniele [1] , Mattarei Andrea [1] , Donadon Michael [1] , Favero Marta [1] , Biasutto Lucia [1] , Rossa Andrea [1] , Peruzzo Roberta [1] , Corrà Samantha [1] , Brischigliaro Michele [1] , Costa Rodolfo [1] , Zoratti Mario [1] , Zeviani Massimo [2] , Viscomi Carlo [1] , Szabo Ildiko * [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 Raquel * [1] , Gilea Alexandru Ionut [2] , Facchinello Nicola [1] , Celeghin Rudy [1] , Risato Giovanni [1] , Ravarotto Samuele [1] , Fiore Elia [1] , Dalla Valle Luisa [1] , Lodi Tiziana [2] , Tiso Natascia [1] , Baruffini Enrico [2] , Argenton Francesco [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 Fanny * [1] , Guida Floriana [2] , Musante Ilaria [2] , Muzzi Lorenzo [2] , Ruggeri Riccardo [1] , Scudieri Paolo [2] , Zara Federico [2] , Cingolani Lorenzo [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 Francesca , Nicolis Di Robilant Vittoria , La Monica Veronica , Augusto Maria Concetta , Battaglini Damiana , Polonara Francesca , Di Giulio Stefano , Belardinilli Francesca , Moretti Matrta , Corsi Alessandro , De Panfilis Simone , Peruzzi Giovanna , De Smaele Enrico , Petroni Marialaura , Giannini Giuseppe *

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 Giorgia , Baldin Serena , De Rosa Roberta , Carmone Clara , Lora Claudia , Valastro Serena , Kilstrup-Nielsen Charlotte , Barbiero Isabella *

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 Roberta * , Valastro Serena , Lora Claudia , Randi Silvia , Barbiero Isabella , Baldin Serena , Carmone Clara , Kilstrup-Nielsen Charlotte

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

CASTELLI ROBERTA * , Sharifzadeh Atiyeh Sadat , Leone Roberta , Giannini Greta Carola , Porro Alessandro , Saponaro Andrea , Moroni Anna

MILANO
early infantile epileptic encephalopathy (EIEE) encefalopatia epilettica infantile precoce (EIEE)
SCIE.05.65
MECHANISMS OF SYNAPTIC DYSFUNCTION IN THE ANGELMAN SYNDROME

Baronchelli Federica * [1] , Biagioni Martina [2] , Di Nunzio Martina [2] , Erreni Marco [2] , Folci Alessandra [1] , Fossati Matteo [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 Edoardo , Passafaro Maria *

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 Caterina [1] , Ghirardini Elsa [2] , Di Vetta Federica [2] , Dadà Lorenzo [2] , Calugi Francesco [2] , Iovino Ludovica [2] , Sagona Giulia [2] , Galbusera Alberto [1] , De Guzman Elizabeth [1] , Gozzi Alessandro [1] , Baroncelli Laura * [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 Ersilia [1] , Beretta Stefania [1] , Catanese Alberto [2] , Zippo Antonio [1] , Boeckers Tobias [2] , Verpelli Chiara [1] , Sala Carlo * [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 Francesca * , Pedrotti Giulia , Santanatoglia Chiara , Lucidi Benedetta , Rossi Eros , Zamfir Raluca Georgiana , De Tomi Elisa , Malerba Giovanni , Malpeli Giorgio , Bottani Emanuela , Decimo Ilaria

Verona
Allan-Herndon-Dudley syndrome (AHDS) Sindrome di Allan Herndon Dudley
SCIE.05.86
REPURPOSING CFTR CORRECTORS IN ALLAN HERNDON DUDLEY SYNDROME

Scano Martina * [1] , Carotti Marcello [1] , Caccin Paola [1] , Benetollo Alberto [1] , Dalla Barba Francesco [1] , Carelli Stephana [2] , Schweizer Ulrich [3] , Cereda Cristina [4] , Tonduti Davide [2] , Sandonà Dorianna [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 Francesca [1] , Carsetti Claudia [1] , Fattorini Gaia [1] , Giorgini Ludovica [1] , Grierson Andrew [2] , Cestra Gianluca [1] , Rinaldo Cinzia * [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 Giuseppe * [1] , Capocci Luca [1] , Marracino Federico [1] , Moons Sam J [2] , Sönmez Aynur [3] , Switonska-Kurkowska Karolina [4] , Scarselli Pamela [1] , Pizzati Ludovica [1] , Figiel Maciej [4] , Boltje Thomas J [2] , Parlato Rosanna [5] , Di Pardo Alba [1] , Maglione Vittorio [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 Giorgia Maria [1] , Gambetta Anna Maria [1] , Amato Sonia [1] , Cannizzaro Noemi [1] , Angiolillo Silvia [1] , Carbognin Elena [1] , Arboit Mattia [1] , Diamante Linda [1] , Romani Patrizia [1] , Galimberti Elena [2] , Pflug Florian [2] , Luoni Mirko [3] , Giannelli Serena [3] , Pepe Giuseppe [4] , Capocci Luca [4] , Di Pardo Alba [4] , Broccoli Vania [3] , Leeb Martin [2] , Moro Enrico [1] , Maglione Vittorio [4] , Martello Graziano * [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 Letizia * [1] , Fenech Alessandro [1] , Regoni Maria [1] , Sevegnani Martina [2] , Pischedda Francesca [2] , Domenicale Chiara [3] , Albanese Federica [3] , Monzani Elena [1] , Andrea Ciammola [4] , Morari Michele [3] , Piccoli Giovanni [2] , Valtorta Flavia [1] , Sassone Jenny [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 Vasco * [1] , Calbi Valeria [1] , Piccoli Marco [1] , Morena Francesco [2] , Rossomanno Ilaria [1] , Laface Ilaria [1] , Ghiroldi Andrea [1] , Sabata Martino [2] , Anastasia Luigi [1] , Aiuti Alessandro [1] , Gritti Angela [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 Maddalena , Santambrogio Paolo , Cozzi Anna , Rubio Alicia , Di Meo Ivano , Tiranti Valeria , Levi Sonia *

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 Patrizia , Di Guardo Roberta , Cipriani Silvia , Bolino Alessandra *

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 Federica [1] , Abati Elena [1] , Bono Silvia [1] , Ruepp M D [2] , Salani Sabrina [1] , Ottoboni Linda [1] , Melzi Valentina [1] , Cordiglieri Chiara [1] , Pagliarani Serena [1] , De Gioia Roberta [1] , Anastasia Alessia [1] , Taiana Michela [1] , Garbellini Manuela [1] , Lodato Simona [1] , Kunderfranco Paolo [1] , Cazzato Daniele [1] , Cartelli Daniele [1] , Lonati Caterina [1] , Bresolin Nereo [1] , Comi Giacomo [1] , Nizzardo Monica [1] , Corti Stefania * [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 Cristina * [1] , Verona Guglielmo [2] , Mimmi Maria Chiara [3] , Mangione Patrizia [3] , Giorgetti Sofia [3] , Bellotti Vittorio [3] , Corazza Alessandra [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 Valentina [1] , Orsi Alessia * [1] , Cavan Silvia [1] , Mazzotta Concetta [1] , Celli Ludovica [2] , De Mori Roberta [2] , Biagini Tommaso [3] , Romani Marta [2] , Garbelli Anna [1] , Smal Noor [4] , Mazza Tommaso [5] , Sabbioneda Simone [1] , Bione Silvia [1] , Condoluci Claudia [2] , Weckhuysen Sarah [4] , Valente Enza Maria [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 Giorgia [1] , Baldi Roberta [1] , Marenco Carolina [1] , Barilà Sara Elisabetta [1] , Mercurio Sara [1] , Testa Giuseppe [1] , Pavesi Giulio [1] , Esk Peter Christopher [2] , Krenn Veronica [1] , Nicolis Silvia Kirsten * [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 Maria Luce * , D'Annunzio Sarah , Lago Sara , Zippo Alessio

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

D'Annunzio Sarah * , Zippo Alessio

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 Martin [1] , Daly Adrian [2] , Grasso Alexia [3] , Tirosh Amit [4] , Palmeira Leonor [2] , Eszter Trifan [3] , Faucz Fabio [5] , Abboud Dayana [2] , Petrossians Patrick [2] , Lania Andrea [3] , Beckers Albert [2] , Stratakis Constantine [5] , Trivellin Giampaolo * [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 Giovanni [1] , Lugato Pietro [1] , Simonato Manuela [2] , Cogo Paola [2] , Santoro Massimo * [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 Loredana [1] , Mimmi Maria Chiara [1] , Raimondi Sara [1] , Mangione Palma Patrizia [1] , Corazza Alessandra [2] , Natalello Antonino [3] , Ami Diletta [3] , Canetti Diana [4] , Verona Guglielmo [4] , Malinverni Silvia [1] , Nocerino Paola [1] , Lampis Alessio [1] , Brambilla Francesca [5] , Di Silvestre Dario [5] , Mauri Pierluigi [5] , Bellotti Vittorio [1] , Giorgetti Sofia [1] , Lavatelli Francesca * [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 Cristina , Barzaghi Federica , Basso-Ricci Luca , Bulté Dimitri , Quaranta Pamela , Rigamonti Chiara , Pettinato Emanuela , Jofra Hernandez Raisa , Romano Alessandro , Scala Serena , Aiuti Alessandro , Mortellaro Alessandra *

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

Olgasi Cristina [1] , Cucci Alessia [1] , Molineris Ivan [2] , Assanelli Simone [1] , Anselmi Francesca [2] , Borsotti Chiara [1] , Sgromo Chiara [1] , Lauria Andrea [2] , Merlin Simone [1] , Walker Gillian [1] , Capasso Paola [3] , Lombardo Angelo [3] , Oliviero Salvatore [2] , Follenzi Antonia * [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' Andrea , Alessandra Scagliola , Giada Mori * , Sara Ricciardi , Paolo Ritter , Annarita Miluzio , Stefania Oliveto , Stefano Biffo

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 Francesco * , Milani Michela , Beretta Stefano , Canepari Cesare , Simoni Chiara , Fabiano Anna , Cammarota Eugenia , Biffi Mauro , Russo Fabio , Merelli Ivan , Cantore Alessio

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

Polishchuk Elena * [1] , Petruzzelli Raffaella [1] , Catalano Federico [1] , Crispino Roberta [1] , De Cegli Rossella [1] , Zischka Hans [2] , Di Schiavi Elia [3] , Polishchuk Roman [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 Beatrice [1] , Selvestrel Davide [1] , Altieri Anna [1] , Mattivi Alessia [2] , Fava Luca [2] , Sorrentino Giovanni * [1] , CONTI LUCIANO [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 Daniele * [1] , Vavassori Valentina [1] , Ferrari Samuele [1] , Plati Tiziana [1] , Porcellini Simona [1] , Asperti Claudia [1] , Rovelli Elisabetta [1] , Radrizzani Marina [1] , Paulis Marianna [2] , Villa Anna [1] , Naldini Luigi [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 Roberto * [1] , Piperno Giulia Maria [1] , Alraies Zahraa [2] , Lennon-Dumenil Ana-Maria [2] , Benvenuti Federica [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 Marialuisa , Cervellini Francesca , Patanella Lorenzo , Caserta Lidia , Polishchuk Elena , De Cegli Rossella , De Matteis Maria Antonietta , Staiano Leopoldo *

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

Migliorati Daniele * [1] , Mattivi Alessia [1] , Laporte Marine [2] , Guichard Paul [2] , Hamel Virginie [2] , Fava Luca [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 Angela * [1] , Murabito Alessandra [1] , Mergiotti Marco [1] , Capurro Valeria [2] , Loffreda Alessia [3] , Conti Jessica [4] , Raimondi Andrea [3] , Sondo Elvira [2] , Melotti Paola [4] , Sorio Claudio [4] , Tacchetti Carlo [3] , Lukacs Gergely [5] , Pedemonte Nicoletta [2] , Hirsch Emilio [1] , Ghigo Alessandra [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 Daniela * [1] , D'Auria Ludovica [1] , Urciuoli Gloria [1] , Antonini Dario [2] , Missero Caterina [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 Lorenzo * , Panariello Francesco , Grimaldi Antonio , Manfredi Anna , Cacchiarelli Davide

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 Alessio * [1] , Fabrizi Alessandra [1] , Marini Grazia [1] , Paiardini Alessandro [2] , Latella Maria Carmela [1] , Laura De Rosa [1] , De Luca Michele [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 Chiara * [1] , Sellitto Caterina [2] , Nardin Chiara [1] , Putti Sabrina [1] , Orsini Tiziana [1] , Di Pietro Chiara [1] , Marazziti Daniela [1] , Vitiello Adriana [3] , Calistri Arianna [3] , Rigamonti Mara [4] , Scavizzi Ferdinando [1] , Raspa Marcello [1] , Zonta Francesco [5] , Yang Guang [5] , White Thomas [2] , Mammano Fabio [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 Simone * [1] , Raggi Federica [1] , Rossi Chiara [1] , Cangelosi Davide [1] , Taverna Daniela [2] , Civino Adele [3] , Filocamo Giovanni [4] , Bosco Maria Carla [1] , Consolaro Alessandro [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 Melani , Arnese Riccardo , Gambardella Gennaro *

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 SIMONA * [1] , RUSSO SILVIA [1] , DE RASMO Domenico [2] , SIGNORILE ANNA [1] , CORCELLI ANGELA [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 Himanshi * [1] , Biasizzo Jessica [2] , Domenis Rossana [2] , Zentilin Lorena [1] , Dardis Andrea [2] , Muro Andrés 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 Fabrizia * , Moregola Annalisa , Norata Giuseppe Danilo

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 Michela , Caiello Ivan , De Benedetti Fabrizio , Dionisi-Vici Carlo , Bertini Enrico , Carrozzo Rosalba , Martinelli Diego *

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

Giuseppina Grieco * , Sandro Montefusco , Diego Medina

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

Santi Ludovica * [1] , Crippa Stefania [1] , Capo Valentina [1] , Penna Sara [1] , De Ponti Giada [1] , Alberti Gaia [1] , Berti Margherita [1] , Consiglieri Giulia [1] , Tucci Francesca [1] , Riminucci Mara [2] , Corsi Alessandro [2] , Barbero Andrea [3] , Lopa Silvia [1] , Martin Ivan [3] , Moretti Matteo [1] , Gentner Bernhard [1] , Aiuti Alessandro [1] , Villa Anna [1] , Bernardo Maria Ester [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 Antonio * , Galiano Laura , Giaccio Marianna , Rubino Riccardo , Fusco Giuliana , De Simone Alfonso , Fraldi Alessandro

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 Marta [1] , Tomasoni Daniela [1] , Fecarotta Simona [2] , Gasperini Serena [3] , Bernado Maria Ester [1] , Parenti Giancarlo [2] , Aiuti Alessandro [1] , Passerini Laura [1] , Gregori Silvia * [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 Vincenzo , Sofia Martina , Rossi Barbara , Strollo Sandra , Brunetti-Pierri Nicola , Ballabio Andrea , Medina Diego Luis , Sorrentino Nicolina Cristina *

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

Torella Annalaura * [1] , Morleo Manuela [1] , Pinelli Michele [2] , Spampanato Carmine [2] , Zanobio Mariateresa [2] , Zeuli Roberta [2] , Tirozzi Alfonsina [2] , Onore Maria Elena [2] , Bonolis Valerio [2] , Mutarelli Margherita [1] , De Riso Giulia [2] , Varavallo Alessandra [1] , Banfi Sandro [1] , Brunetti Nicola [1] , Telethon Undiagnosed Disease Program Study Group [1] , Nigro Vincenzo [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 Paola * [1] , Ciofi-Baffoni Simone [2] , Doni Davide [1] , Grifagni Deborah [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 Samantha , Balmaceda Valeria , Cerutti Raffaele , Brischigliaro Michele , Viscomi Carlo , Zeviani Massimo *

Padova
Mitochondrial Complex I deficiency Deficienza di complesso I mitocondriale
SCIE.11.30
PATHOLOGICAL MOLECULAR MECHANISMS UNDERLYING APOPT1/COA8 LOSS OF FUNCTION

Brischigliaro Michele [1] , Cabrera-Orefice Alfredo [2] , Franchin Cinzia [1] , Roverso Marco [1] , Bogialli Sara [1] , Pastore Paolo [1] , Arrigoni Giorgio [1] , Arnold Susanne [3] , Viscomi Carlo [1] , Zeviani Massimo [1] , Fernandez-Vizarra Erika * [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 Simona * [1] , Cuadros Gamboa Ana Lucia [1] , Bertocchi Martina [1] , Benfante Roberta [2] , Fornasari Diego [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 Serena * , Castagnola Valentina , Bocciardi Renata , Baldassari Simona , Scudieri Paolo , Musante Ilaria , Benfenati Fabio , Zara Federico

Genova
Glut1 deficiency syndrome Sindrome da deficit di Glut1
SCIE.11.35
LEADING GLUT1 TOWARDS THE PLASMA MEMBRANE

Petrosino Sara , Gentile Debora , Esposito Marianna , Grumati Paolo *

Pozzuoli
GLUT1 Deficiency Syndrome Sindrome da deficit di GLUT1
SCIE.11.36
THERAPEUTIC EFFICACY OF MIR-181A/B DOWN REGULATION IN LEIGH SYNDROME

PEZZELLA NUNZIANA , Tammaro Roberta , FERRANTE LUIGI , MASSARO FRANCESCO , Indrieri Alessia , Franco Brunella *

POZZUOLI, NAPLES
LEIGH SYNDROME Sindrome di Leigh
SCIE.11.38
MITMED: IDENTIFICATION AND CHARACTERIZATION OF NEW DISEASE GENES FOR MITOCHONDRIAL DISORDERS

Volta Sara , Brischigliaro Michele , Fernandez-Vizarra Erika , Salviati Leonardo , Zeviani Massimo , Viscomi Carlo *

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

Volpe Mariagrazia [1] , Massa Filomena [1] , Barbato Sara [1] , Tammaro Roberta [1] , De Risi Maria [1] , Saurino Rosa [1] , Molinari Marta [1] , Banfi Sandro [1] , Carrella Sabrina [2] , Surace Enrico Maria [2] , De Leonibus Elvira [1] , Franco Brunella [1] , Indrieri Alessia * [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 Francesca [1] , Grasso Eleonora [1] , Kopecka Joanna [1] , Hentschel Andreas [2] , Bellini Stefania [1] , Barutta Federica [1] , Bonora Massimo [3] , Pinton Paolo [3] , Roos Andreas [4] , Riganti Chiara [1] , Tolosano Emanuela [1] , Chiabrando Deborah * [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 Sirio *

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

GALATOLO DANIELE , Licitra Rosario , Damiani Devid , OGI ASAHI , MARCHESE MARIA , Mero Serena , SANTORELLI FILIPPO MARIA , NAEF VALENTINA *

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 Alberto * , Cappelluti Martino , Migliara Alessandro , Valsoni Sara , Merelli Ivan , Lombardo Angelo

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 Alessia [1] , Berlingieri Christian [1] , Giacomello Marta [2] , Bindoff Laurence [3] , Segel Reeval [4] , Rembaum Paul [4] , Santorelli Filippo [5] , Viscomi Carlo [2] , Zeviani Massimo [2] , Ghezzi Daniele [1] , Brunetti Dario * [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 Chiara [1] , Lai Matteo [2] , Scheda Riccardo [2] , Orsolini Stefano [2] , Mascalchi Mario [1] , Harding Ian [3] , Diciotti Stefano * [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 Giorgio * [1] , Tassinari Marianna [1] , Galvani Giuseppe [1] , Gennaccaro Laura [1] , Loi Manuela [1] , Mottolese Nicola [1] , Candini Giulia [1] , Giustetto Maurizio [2] , Pizzorusso Tommaso [3] , Hiroyuki Nakai [4] , Trazzi Stefania [1] , Ciani Elisabetta [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 Ornella [1] , Damiani Francesca [1] , Ottaviano Emerenziana [2] , Putignano Elena [1] , Cornuti Sara [1] , Tognozzi Andrea [1] , Pizzorusso Tommaso [1] , Vignoli Aglaia [2] , Borghi Elisa [2] , Tognini Paola * [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 Diego , Criscuolo Stefania * , Failli Mario , De Cegli Rossella

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 Sara * [1] , Busnelli Marta [1] , Piazza Rocco Giovanni [2] , Bassani Silvia [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 Alessia , Valassina Nicholas , Brusco Simone , Di Berardino Claudia , Mainardi Martina , Becca Maria Vittoria , Broccoli Vania , Colasante Gaia *

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

Marika albanesi [1] , Brondi Marco [1] , Di Soccio Antonio [1] , Garavaldi Tommaso [2] , Landi Silvia [2] , Nardi Gabriele [2] , Pasquini Giacomo [2] , Pracucci Enrico [2] , Lodovichi Claudia * [1] , Ratto Gian Michele [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 Sara * , Bruno Martina , Stefania Guazzi , Enrica Petrini , Andrea Barberis

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 Francesca , Sterlini Bruno , Corradi Beatrice , Alberini Giulio , Ravasenga Tiziana , Romei Alessandra , Michetti Caterina , Maragliano Luca , Baldelli Pietro , Corradi Anna , Valente Pierluigi , Benfenati Fabio *

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 Giulia [1] , Ciampoli Mariasole [1] , Chini Bice [2] , Papaleo Francesco * [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 Laugeray [1] , Eva De Oliveira Figueiredo [1] , Federica Cordella [2] , Laura Ferrucci * [2] , Nicole Deglon [1] , Daniela Rossi [3] , Claudia Bagni [1] , Manuel Mameli [1] , Franck Polleux [4] , Paola Bezzi [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 Maria Antonietta , Zuccoloni Paolo , Zanardi Ilaria , Picco Cristiana , Barbieri Raffaella , Gavazzo Paoola , Sbrana Francesca , Pusch Michael *

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 Martina * [1] , Laterza Cecilia [1] , Cesare Elisa [1] , Stuart Hannah [2] , Gagliano Onelia [1] , Angiolillo Silvia [1] , Zorzan Irene [3] , Polli Roberta [1] , Martello Graziano [1] , Murgia Alessandra [1] , Elvassore Nicola [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 Giorgia * [1] , Cencelli Giulia [1] , Rosina Eleonora [1] , Mercaldo Valentina [2] , Gentile Antonietta [1] , Pacini Laura [1] , Farace Maria Giulia [1] , Achsel Tilmann [2] , Bagni Claudia [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 CARLA [1] , PRANDI LUCIA [1] , RANDO SIMONA [1] , CONTINI ALESSANDRO [2] , COPPA CRESCENZO [2] , CONTI LUCIANO [3] , MERLO GIORGIO * [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 Zummo , Patrizia D'Adamo *

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 Mirko , Giannelli Serena , Bellinazzi Benedetta , Rossi Margherita , Broccoli Vania *

Milano
Rett syndrome Sindrome di Rett
SCIE.11.77
TARGETING RETT SYNDROME HYPEREXCITABILITY THROUGH ENHANCING GLUTAMATERGIC HOMEOSTASIS

Forastieri Chiara * [1] , Romito Elena [1] , Toffolo Emanuela [1] , Paplekaj Arteda [1] , Sala Mariaelvina [2] , Rusconi Francesco [1] , Battaglioli Elena [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 Stefano [1] , Arcari Alessandro [1] , Sandakly Jawdat [1] , Scandella Lucrezia [1] , Francolini Maura [1] , Fraviga Edoardo [2] , Pozzi Davide [2] , Landsberger Nicoletta * [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 Clara * , Antonucci Flavia

Milan
Rett Syndrome Sindrome di Rett
SCIE.11.80
BASE AND PRIME EDITING OF DNA AS NEW PERSONALIZED TREATMENT FOR RETT DISEASE

Tonetto Elena [1] , Landsberger Nicoletta [2] , Liu David [3] , Pinotti Mirko [1] , Balestra Dario * [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 Alessandro * [1] , Pezzali Martina [1] , Trattaro Sebastiano [1] , Finazzi Veronica [1] , Capocefalo Daniele [1] , Shyti Reinald [1] , Germain Pierre-Luc [2] , Testa Giuseppe [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 Sonia , Ongaro Alberto , Bertocco Ambra , Simonato Manuela , Mattarei Andrea , Santalla Manuela * , Pendin Diana

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 Emanuela * [1] , Marafelli Ilaria [1] , Paulikova Katarina [1] , Giacomello Marta [2] , Covello Giuseppina [2] , Berno Valeria [1] , Cammarota Eugenia [1] , Sambri Irene [3] , Massa Filomena [1] , Casari Giorgio [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 DEVID * [1] , Naef Valentina [1] , DESBATS MARIA ANDREA [2] , Galatolo Daniele [1] , Mero Serena [1] , ZAMPIERI SARA [2] , BAGGIANI MATTEO [1] , TESSA ALESSANDRA [1] , Salviati Leonardo [3] , SANTORELLI FILIPPO 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 Andrea , Cattaneo Elena , Zuccato Chiara *

Milano
Huntington's Disease Malattia di Huntington
SCIE.11.96
DEVELOPMENT OF AN EPIGENETIC EDITING STRATEGY FOR THE TREATMENT OF HUNTINGTON'S DISEASE.

Cappelluti Martino Alfredo * , Coglot Alberto , Lombardo Angelo

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 Serena [1] , Ogi Asahi [1] , Licitra Rosario [1] , Damiani Devid [1] , Ratto Gian Michele [1] , Nardi Gabriele [1] , Imbrici Paola [2] , Liantonio Antonella [2] , Santorelli Filippo Maria [1] , Marchese Maria [1] , Della Vecchia Stefania * [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 Raffaella * , Bizzotto Matteo , Hernandez Soto Rebeca , Tagliatti Erica , Filipello Fabia , Matteoli Michela

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 Sara * [1] , Licitra Rosario [1] , Asahi Ogi [1] , Mero Serena [1] , Galatolo Daniele [1] , Naef Valentina [1] , Gemignani Federica [1] , Ratto Gian Michele [1] , Nardi Gabriele [1] , Rapposelli Simona [1] , Zang Jingjing [2] , Neuhauss Stephan [2] , Marchese Maria [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 Anke [1] , Shackleford Ghjuvan'Ghjacumu [1] , De Blasis Roberta [1] , Ferri Cinzia [1] , Baldi Roberta [1] , Valenzano Serena [1] , Del Carro Ubaldo [1] , Crivellari Luca [1] , Pisciotta Chiara [1] , Saveri Paola [1] , Feltri Laura [2] , Wrabetz Lawrence [2] , Pareyson Davide [1] , D'Antonio Maurizio * [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 Serena *

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

Innocenti Nicole * , Biasini Emiliano

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 Laura [1] , Wits Marius [2] , Sessa Rosario Luigi [1] , Volpe Elisabetta [1] , Ciolfi Serena [1] , Rinaldo serena [1] , Cutruzzola' Francesca [1] , Trisciuoglio Daniela [1] , Sanchez-Duffhues Gonzalo [2] , Stagni Venturina * [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 Barbara [1] , Garibaldi Nadia [1] , Palladino Erika [1] , Sala Alessandra [1] , Brini Marisa [2] , Sonntag Stephan [3] , Forlino Antonella [1] , Besio Roberta * [1]

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

Resnati Massimo , Riva Elena , Materozzi Maria , Cenci Simone , Milan Enrico *

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 Erika * , Barcella Matteo , Volpin Monica , Naldini Matteo , Desantis Giacomo , Merelli Ivan , Montini Eugenio , Gentner Bernhard

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 Silvia [1] , Mazzola Marta [2] , Salvarani Nicolò [1] , Peano Clelia [1] , Albano Claudia [2] , Puccio Simone [1] , Occhetta Paola [3] , Di Pasquale Elisa * [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 Elisa * [1] , Kumawat Amit [2] , Trancuccio Alessandro [1] , Kukavica Deni [1] , Mazzanti Andrea [1] , Denegri Marco [1] , Milani Gualtiero [3] , Cavalluzzi Maria Maddalena [3] , Lentini Giovanni [3] , Camilloni Carlo [2] , Priori Silvia Giuliana [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 Fulvio * , Serpieri Valentina , Pollara Lidia , Mazzotta Concetta , Giorgio Elisa , Sottile Virginie , Bianca Lorenzo , De Gregorio Elena , Stellato Tiziana , Marando Vincenzo Alfredo , Mortarini Giulia , Taccagni Cecilia Maria , Tondinelli Sara , Valente Enza Maria

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 Rossella * , Trivisano Marina , Specchio Nicola , Tartaglia Marco , Compagnucci Claudia

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 Elena * [1] , Martello Alessandra [1] , Pavone Francesco Saverio [1] , Allegra Mascaro Anna Letizia [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 Martina * [1] , Salamone Giulia [1] , Savoli Silvia [1] , De Sarlo Miriam [1] , Vitobello Antonio [2] , Ori Michela [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 Alessia * [1] , Serani Angelo [2] , Tsushima Hanako [2] , Tucci Valter [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 Martina [1] , Petrogiannakis Georgios [1] , Capasso Dalila [1] , Brandi Paola [1] , Garcia-Piqueras Jorge [1] , Ruiz-Ceja Karla Alejandra [1] , Negueruela Santiago [1] , Pizzo Mariateresa [1] , Capolongo Filomena [1] , Karali Marianthi [2] , Franco Brunella [1] , Indrieri Alessia [1] , Carrella Sabrina [1] , Banfi Sandro * [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 Alice * , Mendonca Ana Paula , Rampado Riccardo , Caliceti Paolo , Salmaso Stefano , Scorrano Luca

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 Andrea [1] , Adani Elisa [1] , Piano Ilaria [2] , Gargini Maria Claudia [2] , Ottonelli Ilaria [1] , Tosi Giovanni [1] , Becerra S Patricia [3] , Marigo Valeria * [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 Daniela * [1] , Giamundo Giuliana [2] , Salierno Francesco [1] , Conte Ivan [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 Federica * [1] , Dell'Aquila Fabio [1] , Ferla Rita [1] , Padmanaban Arjun [1] , Lupo Mariangela [1] , Llado Manel [1] , Tornabene Patrizia [1] , Sureda Horrach Paula [1] , Auricchio Stefano [1] , Marrocco Elena [1] , Dell'Anno Margherita [1] , Nusco Edoardo [1] , Trapani Ivana [1] , Surace Enrico Maria [2] , Manfredi Anna [2] , Di filippo Lucio [1] , Torella Annalaura [1] , Peluso Giulio [1] , Cacchiarelli Davide [1] , Nigro Vincenzo [1] , Auricchio Alberto [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 Eugenio , Tenderini Erika , Cascone Annarita , Razzano Francesca , Mazzaro Nadia , Lupo Mariangela , Casciello Maria , Marrocco Elena , Trapani Ivana *

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 Antonio [1] , Viti Federica [2] , Ceccherini Isabella [2] , Vaccari Thomas * [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 Cristiana , Magrassi Raffaella , Nizzari Mario , Viti Federica *

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 Maria Teresa , Bartolucci Martina , Santamaria Giuseppe , Sondo Elvira , Bachetti Tiziana , Viti Federica , Petretto Andrea , Pedemonte Nicoletta , Ceccherini Isabella *

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 Maria Franca , Porcu Susanna , Simbula Michela , Manchinu Maria Francesca , Perseu Lucia , Poddie Daniela , Vaccargiu Simona , Caria Cristian , Faà Valeria , Ristaldi Maria Serafina *

Monserrato (CA)
Beta-thalassemia, Sickle Cell Disease Beta talassemia, Anemia Falciforme
SCIE.11.145
CELL-BASED THERAPY FOR CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA

Trionfini Piera * , Romano Elena , Varinelli Marco , Longaretti Lorena , Tomasoni Susanna

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 Elisa , Tondi Francesca * , Gresele Paolo , Bury Loredana

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 Marco , Scalisi Giulia , Manni Giorgia , Mencarelli Giulia , Ricciuti Doriana , Pieroni Benedetta , Sarnari Francesco , Fallarino Francesca *

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

Federti Enrica * [1] , Mattè Alessandro [1] , Recchiuti Antonio [2] , Mattoscio Domenico [2] , De Franceschi Lucia [1]

Verona [1] , Chieti [2]
Sickle Cell Disease Drepanocitosi o Falcemia
SCIE.11.156
HUMAN HEMATOPOIETIC STEM/PROGENITOR CELL TRAFFICKING AND CLONAL TRACKING

Quaranta Pamela * , Basso-Ricci Luca , Jofra Hernandez Raisa , Pacini Guido , Seffin Luca , Rilievo Angela Antonia , Barcella Matteo , Monti Ilaria , Giannelli Stefania , Darin Silvia , Gattillo Salvatore , Di Micco Raffaella , Ostuni Renato , Ciceri Fabio , Montini Eugenio , Gentner Bernhard , Bernardo Maria Ester , Merelli Ivan , Ferrua Francesca , Cicalese Maria Pia , Scala Serena , Aiuti Alessandro

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 Andrea , Spinozzi Giulio , Cesana Daniela , Benedicenti Fabrizio , Pais Giulia , Scala Serena , Lidonnici Maria Rosa , Scaramuzza Samantha , Albertini Alessandra , Esposito Simona , De Mattia Fabiola , Canarutto Daniele , Tucci Francesca , Omrani Maryam , Dionisio Francesca , Giannelli Stefania , Marktel Sarah , Calbi Valeria , Ferrua Francesca , Gentner Bernhard , Ciceri Fabio , Naldini Luigi , Ferrari Giuliana , Aiuti Alessandro , Montini Eugenio *

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 Agnese [1] , Spinelli Michele [2] , Nusco Edoardo [1] , Capolongo Filomena [1] , Campione Severo [2] , Perna Claudia [1] , Bastille Amy [3] , Ericson Megan [3] , Wang Chih-Chieh [3] , Zhang Shengwen [3] , Amoresano Angela [2] , Nacht Mariana [3] , Piccolo Pasquale * [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 Moschetti * [1] , Vasco Chiara [1] , Clemente Francesca [1] , Maioli Sara [1] , Carelli Elena [1] , Sarnicola Maria Lucia [1] , Crosti Mariacristina [1] , Baselli Lucia [2] , Dellepiane Rosa [2] , Carrabba Maria [2] , Abrignani Sergio [1] , Geginat Jens [1]

Milan [1] , Milano [2]
Hyper-IgE syndrome Sindrome da iper-IgE
SCIE.11.167
DECIPHERING DYSFUNCTIONAL METABOLIC PATHWAYS IN NEPHROPATIC CYSTINOSIS

Cillo Michele , Esposito Alessandra , Agostinis Rossella , Brunetti Maria Elsa , Napolitano Gennaro *

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

Di Malta Chiara *

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 Céline [1] , Tesoriero Chiara [2] , Cratere Mariapia [1] , Ghirotto Francesco [2] , Vettori Andrea [2] , Rampoldi Luca * [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 Chiara * , Lai Michele , Perotti Irene , De Carli Alessandro , Maj Debora , Erica Lucia Crapanzano , Pistello Mauro , Pifferi Massimo

Pisa
Primary Ciliary Diskinesia Discinesia Ciliare Primaria
SCIE.11.179
VASCULAR EHLERS-DANLOS SYNDROME DERMAL FIBROBLASTS' TRANSCRIPTOME: PATHOMECHANISMS AND TARGETABLE MOLECULES

Ritelli Marco , Cinquina Valeria , Bertini Valeria , Zoppi Nicoletta , Venturini Marina , Colombi Marina , Chiarelli Nicola *

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 Andrea * , Verardo Romina , Scialla Rossella , Bagnato Giulia , Verardo Margherita , Alfarano Maria , Russo Matteo Antonio

Rome
Fabry Disease Cardiomiopathy Malattia di Anderson Fabry
SCIE.11.185
CELL-BASED ASSAYS OF GLA GENETIC VARIANTS OF UNKNOWN SIGNIFICANCE

Giaquinto Laura * , Santoro Michele , De Matteis Maria Antonietta

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 Maria Giulia [1] , Tanini Damiano [1] , Rinaldi Marina [2] , Matassini Camilla [1] , Goti Andrea [1] , Cardona Francesca [1] , Morrone Amelia [2] , Clemente Francesca * [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 Chiara * , Barbon Elena , Starinieri Francesco , Cappelluti Martino Alfredo , Negri Camilla , Biffi Mauro , Sanvito Francesca , Lombardo Angelo , Cantore Alessio

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 Cristina * , Monaco Mariagrazia , Capuozzo Antonella , Medina Diego Luis , De Risi Maria , De Leonibus Elvira

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 Lorenzo * , De Risi Maria , Bujanda Cundin Xabier , Pizzo Mariateresa , Fecarotta Simona , Parenti Giancarlo , De Leonibus Elvira

Napoli
Mucopolysaccharidosis-IIIA Mucopolisaccaridosi di tipo IIIA
SCIE.11.195
GENERATION, SELECTION AND CHARACTERISATION OF A NOVEL MOUSE MODEL FOR MUCOPOLYSACCHARIDOSIS TYPE IVA

Berti Margherita * , Crippa Stefania , Jofra-Hernandez Raisa , Santi Ludovica , De Ponti Giada , Alberti Gaia , Mancino Marilena , Basini Tommaso , Scala Serena , Quaranta Pamela , Basso-Ricci Luca , Visigalli Ilaria , Zambimini Giada , Norata Rossana , Rocchi Martina , Sanvito Francesca , Bolamperti Simona , D'Adamo Patrizia , Spinelli Antonello , Aiuti Alessandro , Bernardo Maria Ester

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 Stefania * [1] , Scala Serena [1] , Forni Claudia [2] , Quaranta Pamela [1] , Alberti Gaia [1] , Berti Margherita [1] , Santi Ludovica [1] , De Ponti Giada [1] , Jofra-Hernandez Raisa [1] , Basso-Ricci Luca [1] , Rilievo Angela [1] , Visigalli Ilaria [1] , Paoli Antonella [3] , Consiglieri Giulia [1] , Tucci Francesca [1] , Albertini Paola [1] , Morrone Amelia [3] , Parini Rossella [1] , Gentner Bernhard [1] , Aiuti Alessandro [1] , Bernardo Maria Ester [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 Lorena * [1] , Coviello Domenico [2] , Zecchinelli Anna [3] , Renieri Alessandra [4] , PEGORARO ELENA [5] , Sciacco Monica [3] , Andreetta Francesca [3] , Merla Giuseppe [6] , Nigro Vincenzo [7] , Garavaglia Barbara [3] , Sangiorgi Luca [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 Elisa * [1] , raffaghello Lizzia [1] , Bruno Claudio [1] , Baratto Serena [1] , Pintus Sara [1] , Panicucci Chaira [1] , Bruzzone Santina [1] , Benzi Andrea [1] , Gazzerro Elisabetta [2] , Scudieri Paolo [1] , Antonini Francesca [1] , Del Zotto Jenny [1]

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

Gambarotto Lisa * [1] , Metti Samuele [1] , Castagnaro Silvia [1] , Aita Ada [1] , Baraldo Martina [1] , Sabatelli Patrizia [2] , Arrigoni Giorgio [1] , Blaauw Bert [1] , Cescon Matilde [1] , PEGORARO ELENA [1] , Basso Daniela [1] , Bonaldo Paolo [1]

Padova [1] , Bologna [2]
Ullrich Congenital Muscular Dystrophy; Bethlem M. Distrofia muscolare congenita di Ullrich; Miopatia di Bethlem
SCIE.16.13
CHROMATIN DYSFUNCTION IN EMERY DREIFUSS MUSCULAR DYSTROPHY

Santarelli Philina , Lembo Giovanni , Ferrari Francesco , Lanzuolo Chiara *

Milan
EMERY DREIFUSS MUSCULAR DYSTROPHY Distrofia Muscolare di Emery-Dreifuss
SCIE.16.15
NEW PHARMACOLOGICAL TREATMENT FOR TUBULAR AGGREGATE MYOPATHIES

Pessolano Emanuela * , Genazzani Armando A

Novara
Tubular Aggregate Myopathy Miopatia da aggregati tubulari
SCIE.16.19
ROLE OF POLYAMINES-EIF5A-AUTOPHAGY AXIS IN THE PATHOGENESIS OF MYOTONIC DYSTROPHY TYPE 2

Bordone Rosa , Coni Sonia , Marzullo Marta , D'Amico Rodrigo , Ciapponi Laura , Canettieri Gianluca *

Roma
Myotonic Dystrophy Type 2 Distrofia Miotonica di tipo 2
SCIE.16.22
DEORPHANIZING AND FUNCTIONALIZING THE MITOCHONDRIAL PROTEIN TMEM65

Vetralla Massimo , Santalla Manuela , Sonda Sonia , Pendin Diana , De Stefani Diego *

Padova
Encephalomyopathy Encefalomiopatia
SCIE.16.32
EVALUATION OF IN VITRO NEURONAL CULTURES AS TESTING MODEL FOR PHARMACOLOGICAL TREATMENTS OF A GENETIC FORM OF MIGRAINE

Barbieri Raffaella [1] , Misurale Francesco [1] , Alloisio Susanna [1] , Freilinger Tobias [2] , Pusch Michael [1] , Gavazzo Paola * [1]

Genova [1] , Passau [2]
Familial Hemiplegic Migraine type 3 Emicrania Emiplegica familiare tipo 3
SCIE.16.33
CORRECTING FOXG1 ACTIVITY LEVELS BY SMALL RNA-ANALOGS MODULATING THE CORRESPONDING MRNA LEVELS AND THEIR TRANSLATION RATES

Rigoldi Laura , Liuzzi Gabriele , Frisari Simone , Maftei Elena Sabina , Ayub Maria , Mallamaci Antonello *

Trieste
FOXG1 syndrome Sindrome da mutazione a carico di FOXG1
SCIE.16.42
CELL-PENETRATING SIL1 PROTEIN REPLACEMENT THERAPY FOR MARINESCO-SJOGREN SYNDROME

Amodei Laura * [1] , Ruggieri Anna Giulia [1] , Potenza Francesca [1] , Dufrusine Beatrice [2] , Sallese Michele [1]

Chieti [1] , Teramo [2]
Marinesco-Sjogren syndrome Sindrome di Marinesco-Sjogren
SCIE.16.43
PRECLINICAL EFFICACY STUDY OF PERK SIGNALING INHIBITORS AND TUDCA IN MARINESCO-SJÖGREN SYNDROME

Lavigna Giada , Pasini Chiara , Grasso Anna , Masone Antonio , Mignogna Laura , Grande Valentina , Restelli Elena , Fracasso Claudia , Lucchetti Jacopo , Gobbi Marco , Chiesa Roberto *

Milano
Marinesco-Sjögren syndrome Sindrome di Marinesco-Sjögren
SCIE.16.61
CURE MERRF: FROM FIBROBLASTS TO ORGANOIDS SPEEDING BASIC SCIENCE INTO CLINICAL TRIALS FOR MITOCHONDRIAL DISEASES

Maresca Alessandra * [1] , Capirossi Giada [1] , Capristo Mariantonietta [1] , Del Dotto Valentina [1] , Sacchetti Giulia [1] , Tropeano Concetta Valentina [1] , Pisano Annalinda [2] , Giordano Carla [2] , d'Amati Giulia [2] , Carelli Vallerio [1]

Bologna [1] , Roma [2]
Myoclonic epilepsy with ragged-red fibers Epilessia mioclonica con fibre rosse sfilacciate
SCIE.16.73
EXPLORING THE EPIGENETIC REWIRING ASSOCIATED TO RLF MUTATIONS AS A DRIVER OF INTELLECTUAL DISABILITY

Banfi Federica [1] , Luoni Mirko [1] , Belloni Francesca [1] , Bellini Edoardo [1] , Jackson Adam [2] , Banka Siddharth [2] , Broccoli Vania [1] , Sessa Alessandro * [1]

Milan [1] , Manchester [2]
Mental Retardation facial dymorphism, Kabuki-like Ritardo mentale con dimorfismo facciale, simil-Kabuki
SCIE.16.74
DISSECTING THE PATHOMOLECULAR MECHANISMS OF PRR12 GENE INACTIVATION LEADING TO NEURODEVELOPMENTAL AND EYE ABNORMALITIES.

Alessia Musco' [1] , Mosca Rossella [2] , Martini Davide [1] , Luoni Mirko [2] , Digregorio Matteo [1] , Andreazzoli Massimiliano [1] , Broccoli Vania * [2]

Pisa [1] , Milano [2]
NEUROOCULAR SYNDROME SINDROME NEURO-OCULARE
SCIE.16.75
TARGETING OLIGODENDROGLIAL CELL DYSFUNCTIONS TO TREAT COGNITIVE DEFECTS AND EPILEPSY IN PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY-17 (MCPH17) MODELS

Khastkhodaei Ardakani Maryam [1] , Bonato Martino [1] , Lorenzati Martina [1] , Parolisi Roberta [1] , Vannini Eleonora [2] , Pallavicini Gianmarco [1] , Di Cunto Ferdinando [1] , Buffo Annalisa [1] , Boda Enrica * [1]

Orbassano (Turin) [1] , Pisa [2]
PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 17 Microcefalia primaria autosomica recessiva 17 (MCPH17)
SCIE.16.82
FUNCTIONAL DISSECTION OF PRC2-DEPENDENT DYSREGULATION IN WEAVER SYNDROME THROUGH CORTICAL BRAIN ORGANOIDS AND CRISPR/CAS9 GENOME EDITING SYSTEM

Pezzali Martina * [1] , Trattaro Sebastiano [1] , Vitriolo Alessandro [1] , Sebastiani Sara [1] , Cheroni Cristina [1] , Lo Riso Pietro [1] , Choufani Sanaa [2] , Gabriele Michele [1] , Pozzu Davide [1] , Hughes James [3] , Gibson William [4] , Weksberg Rosanna [2] , Testa Giuseppe [1] , Lopez Tobon Alejandro [1]

Milan [1] , Toronto [2] , Turin [3] , Vancouver [4]
Weaver syndrome Sindrome di Weaver
SCIE.16.84
ROLE OF MYELOPEROXIDASE-MEDIATED NEUROINFLAMMATION IN ACERULOPLASMINEMIA

Ferrini Barbara [1] , Zanardi Alan [1] , Conti Antonio [1] , Belloli Sara [1] , Rainone Paolo [1] , Valtorta Silvia [1] , Moresco Rosa Maria [2] , Gilberti Enrica [3] , De Palma Giuseppe [3] , Lana Daniele [4] , Giovannini Maria Grazia [4] , Nardini Ilaria [5] , Mori Filippo [5] , Zurlo Giada [5] , Scali Carla [5] , Caricasole Andrea [5] , Alessio Massimo * [1]

Milano [1] , Monza [2] , Brescia [3] , Firenze [4] , Gallicano (LU) [5]
Aceruloplasminemia Aceruloplasminemia
SCIE.16.87
MENINGES AS AN OVERLOOKED PHARMACOLOGICAL TARGET FOR GLOBOID CELL LEUKODYSTROPHY

Amenta Alessia * [1] , Zulkifal Malik [1] , Ricca Alessandra [1] , Cascino Federica [1] , Dolci Sissi [2] , Ciarpella Francesca [2] , Riva Marco [3] , Decimo Ilaria [2] , Gritti Angela [1] , Bifari Francesco [1]

Milano [1] , Verona [2] , Rozzano [3]
GLOBOID CELL LEUKODYSTROPHY Leucodistrofia a cellule globoidi
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 Alessandra * [1] , Cascino Federica [1] , Freschi Marta [1] , Picciotti Ilaria [1] , Valeri Erika [1] , Unali Giulia [1] , Morena Francesco [2] , Martino Sabata [2] , Kajaste-Rudnitski Anna [1] , Gritti Angela [1]

Milan [1] , Perugia [2]
Globoid Cell Leukodystrophy malattia di Krabbe
SCIE.16.102
NPC INTRACELLULAR CHOLESTEROL TRANSPORTER 1 MEDIATES SARS-COV2 INFECTION

La Rosa Piergiorgio * , Tiberi Jessica , Palermo Enrico , Hiscott John , Fiorenza Maria Teresa

Roma
Niemann Pick type C1 Niemann Pick type C1
SCIE.16.109
PHENOTYPE OF THE FIRST MOUSE MODEL OF COLE CARPENTER SYNDROME.

Patrizii Piergiorgio * [1] , Desmond Katie [1] , Newman Oriana [1] , Pucci Elisa [1] , Stoppacciaro Antonella [2] , Menè Paolo [2] , Teti Anna [1] , Maurizi Antonio [1]

L'Aquila [1] , Rome [2]
Cole Carpenter Syndrome Sindrome di Cole Carpenter
SCIE.16.113
AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE 2 (ADO2): CLOSE TO THE CURE. WHAT TO WE MISS?

Patrizii Piergiorgio * [1] , Maurizi Antonio [1] , Ewe Alexander [2] , Aigner Achim [2] , Teti Anna Maria [1]

L'Aquila [1] , Leipzig [2]
Autosomal Dominant Osteopetrosis Type 2 Osteopetrosi Autosomica Dominante di Tipo 2
SCIE.16.115
ELUCIDATING THE SIGNIFICANCE OF OSTEOPETROTIC BONE MARROW NICHE IN HEMATOPOIETIC STEM AND PROGENITOR CELLS, AND ITS IMPLICATIONS FOR STEM CELL THERAPY

Capo Valentina , Penna Sara , Zecchilo Alessandra , DiVerniere Martina , Zonari Erika , Naldini Matteo , Merelli Ivan , Barcella Matteo , Draghici Elena , Scanziani Eugenio , Cappelleri Andrea , Crisafulli Laura , Ficara Francesca , Sobacchi Cristina , Gentner Bernhard , Villa Anna *

Milano
Autosomal Recessive Osteopetrosis Osteopetrosi
SCIE.16.116
STRUCTURAL-FUNCTIONAL ANALYSIS OF CLC PROTEIN FAMILY

Fiore Michele , Lagostena Laura , Picollo Alessandra *

Genova
Osteopetrosis, Bartter syndrome, Osteopetrosis, Sindrome di Bartter
SCIE.16.120
MODULATION OF NBAS-RELATED FUNCTIONS IN THE EARLY RESPONSE TO SARS-COV-2 INFECTION

Granata Valentina [1] , Pagani Isabel [2] , Morenghi Emanuela [1] , Schiavone Maria Lucia [1] , Lezzi Alessandra [2] , Ghezzi Silvia [2] , Vicenzi Elisa [2] , Poli Guido [2] , Sobacchi Cristina * [2]

Rozzano [1] , Milano [2]
COVID19 COVID19
SCIE.16.121
ZEBRAFISH AS MODEL FOR CATEL-MANZKE SYNDROME: IDENTIFICATION AND CHARACTERIZATION OF DANIO RERIO TGDS

Coppola Maria Rosaria Coppola , Bellitto Deianira , Bozzo Matteo , Candiani Simona , Tonetti Michela *

Genova
Catel-Manzke Syndrome Sindrome di Catel-Manzke
SCIE.16.122
CONNECTING CRANIOFACIAL MALFORMATIONS WITH NEURAL CREST SPLICING DEFECTS BY UNCOVERING THE HIDDEN ROLE OF NATURAL KILLER CELL TRIGGERING RECEPTOR GENE (NKTR).

Oleari Roberto [1] , Corsinovi Debora [2] , Caramello Alessia [3] , Paganoni Alyssa Julia Jennifer [1] , Amoruso federica [1] , Ori Michela [2] , Cariboni Anna * [1]

Milan [1] , Pisa [2] , London [3]
Developmental delay with craniofacial and genital Sindrome caratterizzata da ritardo dello sviluppo, anomalie craniofacciali e genitali
SCIE.16.148
ANALYSIS OF THE PGE2-MEF2A AXIS IN THE BONE MARROW MICROENVIRONMENT

Ostuni Renato *

Milan
Genetic hematologic diseases Malattie genetiche ematologiche
SCIE.16.151
EXPLORING THE ROLE OF MEDIATOR COMPLEX SUBUNIT 12-LIKE (MED12L) IN RARE MYELOID NEOPLASMS

Crisafulli Laura [1] , Zampini Matteo [2] , Saba Elena [3] , Riva Elena [2] , Della Porta Matteo Giovanni [3] , Ficara Francesca * [1]

Milan [1] , Rozzano (Milan) [2] , Pieve Emanuele (Milan) [3]
Myeloproliferative neoplasm Neoplasie mieloidi
SCIE.16.152
THE FC RECEPTOR CD32 IS A SPECIFIC CELL-SURFACE MARKER FOR ISOLATING HUMAN HEMOGENIC ENDOTHELIAL CELLS

Ditadi Andrea * , Scarfò Rebecca

Milan
SCID-X1 SCID-X1
SCIE.16.155
IMPACT OF A NOVEL VARIANT OF THE BETA ISOFORM OF THE TBXA2R GENE ASSOCIATED WITH A HEMORRHAGIC DISORDER ON PLATELET AND ENDOTHELIAL FUNCTION

Bury Loredana , Falcinelli Emanuela , Mezzasoma Anna Maria , Tondi Francesca * , Gresele Paolo

Perugia
Thromboxane receptor defect Difetto del recettore del trombossano
SCIE.16.165
A NOVEL THERAPEUTIC STRATEGY FOR RARE GENETIC DISEASES CAUSED BY TELOMERE DYSFUNCTION

Oppezzo Alessia * [1] , Sepe Sara [1] , Rossiello Francesca [1] , Marinelli Eugenia [1] , Boggio Sara [1] , di Lillo Alessia