SESSIONE: Poster session 1
13/03/2023 17:30 - 18:45
Riva del Garda, Centro Congressi SALA: Palavela

Poster session 1

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]
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]
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]
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]
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]
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]
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]
SCIE.05.9
INSTRUCTING ER-PHAGY TO COUNTERACT MUSCLE DISEASES

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

Pozzuoli
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]
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
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]
SCIE.05.16
ROLE OF STORE-OPERATED CA2+ ENTRY (SOCE) IN TUBULAR AGGREGATE MYOPATHY.

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

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

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

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

Moretto E. , Passafaro M. *

CNR, Institute of Neuroscience, Milan 20129, Italy
SCIE.05.68
CREATINE DEFICIENCY SYNDROME: NOVEL INSIGHT INTO BRAIN FUNCTION AND THERAPEUTIC STRATEGIES

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

Rovereto [1] , Pisa [2]
SCIE.05.81
IDENTIFICATION OF POSSIBLE THERAPEUTIC TARGETS TO RESCUE NEURONAL AND SYNAPTIC DYSFUNCTIONS CAUSED BY DELETIONS AND MUTATIONS OF THE TCF20 INTELLECTUAL DISABILITY GENE

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

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

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

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

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

Padova [1] , Milano [2] , Bonn [3] , Milan [4]
SCIE.05.90
TARGETING SPASTIN PROTEIN DEGRADATION FOR HEREDITARY SPASTIC PARAPLEGIA (HSP) TREATMENT

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

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

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

Pozzilli [1] , Nijmegen [2] , Ulm [3] , Poznań [4] , mannheim [5]
SCIE.05.95
A GENOME-WIDE SCREENING IN PLURIPOTENT CELLS IDENTIFIES MTF1 AS A NOVEL SUPPRESSOR OF MUTANT HUNTINGTIN TOXICITY

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

Padua [1] , Vienna [2] , Milan [3] , Pozzilli [4]
SCIE.05.97
NEUROPATHOLOGICAL FEATURES OF PARKIN R275W MOUSE MODEL

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

Milan [1] , Trento [2] , Ferrara [3] , Milano [4]
SCIE.05.99
DISSECTING THE MECHANISMS OF MYELOID-TO-NEURAL ENZYMATIC CROSS-CORRECTION IN THE CONTEXT OF HEMATOPOIETIC STEM CELL GENE THERAPY FOR METACHROMATIC LEUKODYSTROPHY

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

Milan [1] , Perugia [2]
SCIE.05.103
IPS-DERIVED IRON-BURDEN ASTROCYTE AS MODELS TO APPROACH THE THERAPY FOR PKAN AND COPAN.

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

Milano
SCIE.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
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]
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]
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]
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]
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
SCIE.05.131
ROLE OF CHROMATIN CONDENSATES IN TUNING NUCLEAR MECHANO-SENSING IN KABUKI SYNDROME

D'Annunzio S. * , Zippo A.

Trento
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]
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]
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]
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
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]
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
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
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]
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]
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]
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]
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
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]
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]
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]
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)
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]
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]
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]
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
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]
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]
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
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
SCIE.05.190
MICE LACKING TRPML1 PRESENT KIDNEY DISEASE

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

Napoli
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]
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
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]
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)
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]