SESSIONE: Poster session 3
14/03/2023 17:30 - 18:30
Riva del Garda, Centro Congressi SALA: Palavela

Poster session 3

SCIE.16.1
P2X7 RECEPTOR ANTAGONIST REDUCES FIBROSIS AND INFLAMMATION IN A MOUSE MODEL OF ALPHA-SARCOGLYCAN MUSCULAR DYSTROPHY

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

Genova [1] , Berlin [2]
SCIE.16.12
SPERMIDINE AS NEW CANDIDATE FOR THE TREATMENT OF COL6 MYOPATHIES

Gambarotto L. * [1] , Metti S. [1] , Castagnaro S. [1] , Aita A. [1] , Baraldo M. [1] , Sabatelli P. [2] , Arrigoni G. [1] , Blaauw B. [1] , Cescon M. [1] , Pegoraro E. [1] , Basso D. [1] , Bonaldo P. [1]

Padova [1] , Bologna [2]
SCIE.16.13
CHROMATIN DYSFUNCTION IN EMERY DREIFUSS MUSCULAR DYSTROPHY

Santarelli P. , Lembo G. , Ferrari F. , Lanzuolo C. *

Milan
SCIE.16.15
NEW PHARMACOLOGICAL TREATMENT FOR TUBULAR AGGREGATE MYOPATHIES

Pessolano E. * , Genazzani A.A.

Novara
SCIE.16.19
ROLE OF POLYAMINES-EIF5A-AUTOPHAGY AXIS IN THE PATHOGENESIS OF MYOTONIC DYSTROPHY TYPE 2

Bordone R. , Coni S. , Marzullo M. , D'Amico R. , Ciapponi L. , Canettieri G. *

Roma
SCIE.16.22
DEORPHANIZING AND FUNCTIONALIZING THE MITOCHONDRIAL PROTEIN TMEM65

Vetralla M. , Santalla M. , Sonda S. , Pendin D. , De Stefani D. *

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

Barbieri R. [1] , Misurale F. [1] , Alloisio S. [1] , Freilinger T. [2] , Pusch M. [1] , Gavazzo P. * [1]

Genova [1] , Passau [2]
SCIE.16.33
CORRECTING FOXG1 ACTIVITY LEVELS BY SMALL RNA-ANALOGS MODULATING THE CORRESPONDING MRNA LEVELS AND THEIR TRANSLATION RATES

Rigoldi L. , Liuzzi G. , Frisari S. , Maftei E.S. , Ayub M. , Mallamaci A. *

Trieste
SCIE.16.42
CELL-PENETRATING SIL1 PROTEIN REPLACEMENT THERAPY FOR MARINESCO-SJOGREN SYNDROME

Amodei L. * [1] , Ruggieri A.G. [1] , Potenza F. [1] , Dufrusine B. [2] , Sallese M. [1]

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

Lavigna G. , Pasini C. , Grasso A. , Masone A. , Mignogna L. , Grande V. , Restelli E. , Fracasso C. , Lucchetti J. , Gobbi M. , Chiesa R. *

Milano
SCIE.16.61
CURE MERRF: FROM FIBROBLASTS TO ORGANOIDS SPEEDING BASIC SCIENCE INTO CLINICAL TRIALS FOR MITOCHONDRIAL DISEASES

Maresca A. * [1] , Capirossi G. [1] , Capristo M. [1] , Del Dotto V. [1] , Sacchetti G. [1] , Tropeano C.V. [1] , Pisano A. [2] , Giordano C. [2] , D'Amati G. [2] , Carelli V. [1]

Bologna [1] , Roma [2]
SCIE.16.73
EXPLORING THE EPIGENETIC REWIRING ASSOCIATED TO RLF MUTATIONS AS A DRIVER OF INTELLECTUAL DISABILITY

Banfi F. [1] , Luoni M. [1] , Belloni F. [1] , Bellini E. [1] , Jackson A. [2] , Banka S. [2] , Broccoli V. [1] , Sessa A. * [1]

Milan [1] , Manchester [2]
SCIE.16.74
DISSECTING THE PATHOMOLECULAR MECHANISMS OF PRR12 GENE INACTIVATION LEADING TO NEURODEVELOPMENTAL AND EYE ABNORMALITIES.

Alessia M. [1] , Mosca R. [2] , Martini D. [1] , Luoni M. [2] , Digregorio M. [1] , Andreazzoli M. [1] , Broccoli V. * [2]

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

Khastkhodaei Ardakani M. [1] , Bonato M. [1] , Lorenzati M. [1] , Parolisi R. [1] , Vannini E. [2] , Pallavicini G. [1] , Di Cunto F. [1] , Buffo A. [1] , Boda E. * [1]

Orbassano (Turin) [1] , Pisa [2]
SCIE.16.82
FUNCTIONAL DISSECTION OF PRC2-DEPENDENT DYSREGULATION IN WEAVER SYNDROME THROUGH CORTICAL BRAIN ORGANOIDS AND CRISPR/CAS9 GENOME EDITING SYSTEM

Pezzali M. * [1] , Trattaro S. [1] , Vitriolo A. [1] , Sebastiani S. [1] , Cheroni C. [1] , Lo Riso P. [1] , Choufani S. [2] , Gabriele M. [1] , Pozzu D. [1] , Hughes J. [3] , Gibson W. [4] , Weksberg R. [2] , Testa G. [1] , Lopez Tobon A. [1]

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

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

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

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

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

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

Milan [1] , Perugia [2]
SCIE.16.102
NPC INTRACELLULAR CHOLESTEROL TRANSPORTER 1 MEDIATES SARS-COV2 INFECTION

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

Roma
SCIE.16.109
PHENOTYPE OF THE FIRST MOUSE MODEL OF COLE CARPENTER SYNDROME.

Patrizii P. * [1] , Desmond K. [1] , Newman O. [1] , Pucci E. [1] , Stoppacciaro A. [2] , Menè P. [2] , Teti A. [1] , Maurizi A. [1]

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

Patrizii P. * [1] , Maurizi A. [1] , Ewe A. [2] , Aigner A. [2] , Teti A.M. [1]

L'Aquila [1] , Leipzig [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 V. , Penna S. , Zecchilo A. , Diverniere M. , Zonari E. , Naldini M. , Merelli I. , Barcella M. , Draghici E. , Scanziani E. , Cappelleri A. , Crisafulli L. , Ficara F. , Sobacchi C. , Gentner B. , Villa A. *

Milano
SCIE.16.116
STRUCTURAL-FUNCTIONAL ANALYSIS OF CLC PROTEIN FAMILY

Fiore M. , Lagostena L. , Picollo A. *

Genova
SCIE.16.120
MODULATION OF NBAS-RELATED FUNCTIONS IN THE EARLY RESPONSE TO SARS-COV-2 INFECTION

Granata V. [1] , Pagani I. [2] , Morenghi E. [1] , Schiavone M.L. [1] , Lezzi A. [2] , Ghezzi S. [2] , Vicenzi E. [2] , Poli G. [2] , Sobacchi C. * [2]

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

Coppola M.R.C. , Bellitto D. , Bozzo M. , Candiani S. , Tonetti M. *

Genova
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 R. [1] , Corsinovi D. [2] , Caramello A. [3] , Paganoni A.J.J. [1] , Amoruso F. [1] , Ori M. [2] , Cariboni A. * [1]

Milan [1] , Pisa [2] , London [3]
SCIE.16.148
ANALYSIS OF THE PGE2-MEF2A AXIS IN THE BONE MARROW MICROENVIRONMENT

Ostuni R. *

Milan
SCIE.16.151
EXPLORING THE ROLE OF MEDIATOR COMPLEX SUBUNIT 12-LIKE (MED12L) IN RARE MYELOID NEOPLASMS

Crisafulli L. [1] , Zampini M. [2] , Saba E. [3] , Riva E. [2] , Della Porta M.G. [3] , Ficara F. * [1]

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

Ditadi A. * , Scarfò R.

Milan
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 L. , Falcinelli E. , Mezzasoma A.M. , Tondi F. * , Gresele P.

Perugia
SCIE.16.165
A NOVEL THERAPEUTIC STRATEGY FOR RARE GENETIC DISEASES CAUSED BY TELOMERE DYSFUNCTION

Oppezzo A. * [1] , Sepe S. [1] , Rossiello F. [1] , Marinelli E. [1] , Boggio S. [1] , Di Lillo A. [1] , Rosso I. [1] , Tavella S. [1] , Matti V. [1] , Cicio G. [1] , Cancila V. [2] , Mancheno-Ferris A. [1] , Iannelli F. [1] , Tripodo C. [2] , D'Adda Di Fagagna F. [1]

Milan [1] , Palermo [2]
SCIE.16.166
CELLULAR SENESCENCE AND INFLAMMATORY PROGRAMS ARE UNINTENDED CONSEQUENCES OF CRISPR-CAS9 GENE EDITING IN HEMATOPOIETIC STEM AND PROGENITORS CELLS

Conti A. * [1] , De Marco R. [1] , Tavella T. [1] , Midena F. [1] , Ferrari S. [1] , Beretta S. [1] , Brombin C. [2] , Merelli I. [3] , Naldini L. [1] , Di Micco R. [1]

Milan [1] , Milano [2] , Segrate Milano [3]
SCIE.16.173
PHARMACOLOGICAL MODULATION OF ION TRANSPORT TO TREAT THE BASIC DEFECT IN CYSTIC FIBROSIS

Venturini A. , Borrelli A. , Genovese M. * , Guidone D. , Buccirossi M. , Renda M. , Galietta L.J.V.

Pozzuoli
SCIE.16.199
MEMBRANE REARRANGEMENTS DURING SARS-COV-2 INFECTION

Sergio M.C. * , Ricciardi S. , Di Tullio G. , Santoro M. , Giaquinto L. , Guarino A. , Wilson C. , Polishchuk E. , Polishchuk R. , Venditti R. , De Matteis M.A.

Pozzuoli
SCIE.16.200
MOLECULAR DETERMINANTS OF VIRAL PATHOGENESIS

Stelitano D. , Bianco G. , Kaesler F. , Marano V. , Tiano S.M.L. , Vlachová Š. , Cortese M. *

Pozzuoli
SCIE.16.202
TIGEM SCIENTIFIC OFFICE

Diex Roux G. , Bouchè V. , Forzati F. , Rotoli V. , Sanges D. * , Summaria B. , Zimbardi B.

Naples