Inborn errors of metabolism
SCIE.11.189
EVALUATING THE EFFICACY OF A GENE EDITING STRATEGY FOR PROGRESSIVE FAMILIAR INTRAHEPATIC CHOLESTASIS TYPE 2 (PFIC-2)

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

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

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

Rome
SCIE.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.05.184
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.11.195
GENERATION, SELECTION AND CHARACTERISATION OF A NOVEL MOUSE MODEL FOR MUCOPOLYSACCHARIDOSIS TYPE IVA

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

Milan
SCIE.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.05.191
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.05.186
EXPLOITING REGULATORY T-CELL METABOLIC REPROGRAMMING AND VASCULAR TROPISM AS THERAPEUTIC TOOLS FOR FAMILIAL HYPERCHOLESTEROLAEMIA

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

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

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

Milan [1] , Rome [2] , Firenze [3]
SCIE.11.185
CELL-BASED ASSAYS OF GLA GENETIC VARIANTS OF UNKNOWN SIGNIFICANCE

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

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

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

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

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

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

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

via della Lastruccia 3-13, 50019 Sesto Fiorentino [1] , Viale Pieraccini n. 24, 50139 Firenze [2]
SCIE.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.05.198
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)