Reasearch area: Genetics and Rare Diseases

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Coordinator

Leonardo Salviati

Labs

Model organisms and rare diseases

Group Leader Eva Trevisson

Neurodevelopmental Molecular Genetics Laboratory

Group Leader Alessandra Murgia

Diagnosis and Therapy of Lysosomal Disorders

Group Leader Rosella Tomanin

Clinical Genetics and Epidemiology

Group Leader Leonardo Salviati

Immunopathology and Molecular Biology of kidney

Group Leader Elisa Benetti

Latest Publications

View all latest publications

Inborn Errors of Metabolism Involving Complex Molecules Lysosomal and Peroxisomal Storage Diseases
Cinzia Maria Bellettato, Leroy Hubert, Maurizio Scarpa, Michael F. Wangler
Pediatr Clin N Am 65 (2018) 353–373

TP-0903 inhibits neuroblastoma cell growth and enhances the sensitivity to conventional chemotherapy
Sanja Aveica, Diana Corallo, Elena Porcù, Marcella Pantile, Daniele Boso, Carlo Zanon, Giampietro Viola, Viktoryia Sidarovich, Elena Mariotto, Alessandro Quattrone, Giuseppe Basso, Gian Paolo Tonini
European Journal of Pharmacology 818 (2018) 435–448

AKR1C enzymes sustain therapy resistance in paediatric T-ALL
Roberta Bortolozzi, Silvia Bresolin, Elena Rampazzo, Maddalena Paganin, Francesca Maule, Elena Mariotto, Daniele Boso, Sonia Minuzzo, Valentina Agnusdei, Giampietro Viola, Geertruy te Kronnie, Giovanni Cazzaniga, Giuseppe Basso and Luca Persano
Br J Cancer. 2018 Apr;118(7):985-994

Grating-Coupled Surface Plasmon Resonance (GC-SPR) Optimization for Phase-Interrogation Biosensing in a Microfluidic Chamber
Stefano Rossi, Enrico Gazzola, Pietro Capaldo , Giulia Borile and Filippo Romanato
Sensors 2018, 18, 1621

Liposomal delivery of a Pin1 inhibitor complexed with cyclodextrins as new therapy for high-grade serous ovarian cancer

Concetta Russo Spena, Lucia De Stefano, Stefano Palazzolo, Barbara Salis, Carlotta Granchi, Filippo Minutolo, Tiziano Tuccinardi, Roberto Fratamico, Sara Crotti, Sara D’Aronco, Marco Agostini, Giuseppe Corona, Isabella Caligiuri, Vincenzo Canzonieri, Flavio Rizzolio

Journal of Controlled Release 281 (2018) 1-10

Decellularized Diaphragmatic Muscle Drives a Constructive Angiogenic Response In Vivo.
Alvarèz Fallas ME, Piccoli M, Franzin C, Sgrò A, Dedja A, Urbani L, Bertin E, Trevisan C, Gamba P, Burns AJ, De Coppi P, Pozzobon M.
Int J Mol Sci. 2018 Apr 28;19(5)

A finite element analysis of diaphragmatic hernia repair on an animal model.
N. de Cesare, C. Trevisan, E. Maghin, M. Piccoli, P.G. Pavan
Journal of the Mechanical Behavior of Biomedical Materials

Addition of dose-intensified doxorubicin to standard chemotherapy for rhabdomyosarcoma (EpSSG RMS 2005): a multicentre, open-label, randomised controlled, phase 3 trial
Gianni Bisogno, Meriel Jenney, Christophe Bergeron, Soledad Gallego Melcón, Andrea Ferrari, Odile Oberlin, Modesto Carli, Michael Stevens,
Anna Kelsey, Angela De Paoli, Mark N Gaze, Helene Martelli, Christine Devalck, Johannes H Merks, Myriam Ben-Arush, Heidi Glosli, Julia Chisholm, Daniel Orbach, Veronique Minard-Colin, Gian Luca De Salvo
European paediatric Soft tissue sarcoma Study Group

Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?
Negrisolo S, Carraro A, Fregonese G, Benetti E, Schaefer F, Alberti M, Melchionda S, Fischetto R, Giordano M, Murer L
European Society of Human Genetics 2018

Somatic mutations in specific and connected sub-pathways are associated to short neuroblastoma patients’ survival and indicate proteins targetable at onset of disease

Maria Rosaria Esposito, Andrea Binatti, Marcella Pantile, Alessandro Coppe, Katia Mazzocco, Luca Longo, Mario Capasso, Vito Alessandro Lasorsa, Roberto Luksch, Stefania Bortoluzzi, Gian Paolo Tonini

International Journal of Cancer

BMP9 counteracts the tumorigenic and pro-angiogenic potential of glioblastoma

Elena Porcù, Francesca Maule, Daniele Boso, Elena Rampazzo, Vito Barbieri, Gaia Zuccolotto, Antonio Rosato, Chiara Frasson, Giampietro Viola, Allesandro Della Puppa, Giuseppe Basso, Luca Persano

Official journal of the Cell Death Differentiation Association

How can nanotechnology help the fight against breast cancer?

Elisabetta Avitabile, Davide Bedognetti, Gianni Ciofani, Alberto Bianco and Lucia Gemma Delogu

Nanoscale

Analytical aspects of sunitinib and its geometric isomerism towardstherapeutic drug monitoring in clinical routine

Bianca Posocco, Mauro Buzzo, Luciana Giodini, Sara Crotti , Sara D’Aronco, Pietro Traldi, Marco Agostini, Elena Marangon, Giuseppe Toffoli

Journal of Pharmaceutical and Biomedical Analysis 160 (2018) 360–367

Transcriptional programming of lipid and amino acid metabolism by the skeletal muscle circadian clock

Dyar KA, Hubert MJ, Mir AA, Ciciliot S, Lutter D, Greulich F, Quagliarini F, Kleinert M, Fischer K, Eichmann TO, Wright LE, Peña Paz MI, Casarin A, Pertegato V, Romanello V, Albiero M, Mazzucco S, Rizzuto R, Salviati L, Biolo G, Blaauw B, Schiaffino S, Uhlenhaut NH.

PLoS Biology 2018 Aug 10;16(8):e2005886

Clinical syndromes associated with Coenzyme Q(10) deficiency

Alcázar-Fabra M, Trevisson E, Brea-Calvo G.

Essays in Biochemistry 2018 Jul 20;62(3):377-398

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

Imperatore V, Pinto AM, Gelli E, Trevisson E, Morbidoni V, Frullanti E, Hadjistilianou T, De Francesco S, Toti P, Gusson E, Roversi G, Accogli A, Capra V, Mencarelli MA, Renieri A, Ariani F.

European Journal of Human Genetics 2018 Jul;26(7):1026-1037

Outcome of renal transplantation in small infants: a match-controlled analysis

Weitz M, Laube GF, Schmidt M, Krupka K, Murer L, Müller D, Hoppe B, Büscher A, König J, Pohl M, Jungraithmayr T, Thiel F, Billing H, Grenda R, Rubik J, Kaabak MM, Yalcinkaya F, Topaloglu R, Webb N, Dello Strologo L, Pape L, Nadalin S, Tönshoff B.

Pediatric Nephrology 2018 Jun;33(6):1057-1068

Epidemiology of and Risk Factors for BK Polyomavirus Replication and Nephropathy in Pediatric Renal Transplant Recipients: An International CERTAIN Registry Study

Höcker B, Schneble L, Murer L, Carraro A, Pape L, Kranz B, Oh J, Zirngibl M, Dello Strologo L, Büscher A, Weber LT, Awan A, Pohl M, Bald M, Printza N, Rusai K, Peruzzi L, Topaloglu R, Fichtner A, Krupka K, Köster L, Bruckner T, Schnitzler P, Hirsch HH, Tönshoff B.

Transplantation. 2018 Aug 20 [Epub ahead of print]

Effect of haemodiafiltration vs conventional haemodialysis on growth and cardiovascular outcomes in children – the HDF, heart and height (3H) study

Shroff R, Bayazit A, Stefanidis CJ, Askiti V, Azukaitis K, Canpolat N, Agbas A, Anarat A, Aoun B, Bakkaloglu S, Bhowruth D, Borzych-Dużałka D, Bulut IK, Büscher R, Dempster C, Duzova A, Habbig S, Hayes W, Hegde S, Krid S, Licht C, Litwin M, Mayes M, Mir S, Nemec R, Obrycki L, Paglialonga F, Picca S, Ranchin B, Samaille C, Shenoy M, Sinha M, Smith C, Spasojevic B, Vidal E, Vondrák K, Yilmaz A, Zaloszyc A, Fischbach M, Schaefer F, Schmitt CP.

BMC Nephrology 2018 Aug 10;19(1):199

Immune Profiling of Polysaccharide Submicron Vesicles

Chiara Cristina TOMA, Alessandra Aloisi, Valentina Bordoni, Riccardo Di Corato, Martina Rauner, Gianaurelio Cuniberti, Lucia Gemma Delogu and Rosaria Rinaldi

Biomacromolecules, Just Accepted Manuscript – Publication Date (Web): 16 Jul 2018

Cardiopulmonary-Bypass Glial Fibrillary Acidic Protein Correlates With Neurocognitive Skills

Luca Vedovelli, Massimo Padalino, Agnese Suppiej, Stefano Sartori, Gianclaudio Falasco, Manuela Simonato, Virgilio P. Carnielli, Giovanni Stellin and Paola Cogo

Ann Thorac Surg 2018;106:792–8)

Preclinical three‐dimensional colorectal cancer model: The next generation of in vitro drug efficacy evaluation

Francesca Sensi, Edoardo D’Angelo, Sara D’Aronco, Roberto Molinaro, Marco Agostini

J Cell Physiol. 2018;1–11

Dual inhibition of PI3K/mTOR signaling in chemoresistant AML primary cells

Jessika Bertacchini, Chiara Frasson, Francesca Chiarini, Daniele D’Avella, Benedetta Accordi, Laura Anselmi, Patrizia Barozzi, Fabio Forghieri, Mario Luppi, Alberto M. Martelli, Giuseppe Basso, Saki Najmaldin,Abbas Khosravi, Fakher Rahim, Sandra Marmiroli

Advances in Biological Regulation 68 (2018) 2–9

Preclinical evaluation of second generation PIM inhibitors for the treatment of T-cell acute lymphoblastic leukemia and lymphoma

Renate De Smedt, Sofie Peirs, Julie Morscio, Filip Matthijssens, Juliette Roels, Lindy Reunes, Beatrice Lintermans, Steven Goossens, Tim Lammens, Nadine Van Roy, Aurore Touzart, Silvia Jenni, Yi-Chien Tsai, Federica Lovisa, Lara Mussolin, Valentina Serafin, Filip Van Nieuwerburgh, Dieter Deforce, Anne Uyttebroeck, Thomas Tousseyn, Birgit Burkhardt, Wolfram Klapper, Barbara De Moerloose, Yves Benoit, Elizabeth Macintyre, Jean-Pierre Bourquin, Giuseppe Basso, Benedetta Accordi, Beat Bornhauser, Jules Meijerink, Peter Vandenberghe, Pieter Van Vlierberghe

Haematologica 2018 [Epub ahead of print]

USP7 cooperates with NOTCH1 to drive the oncogenic transcriptional program in T cell leukemia

Qi Jin, Carlos A. Martinez, Kelly M. Arcipowski, Yixing Zhu, Blanca Teresa Gutierrez Diaz, Kenneth K. Wang, Megan R. Johnson, Andrew G. Volk, Feng Wang, Jian Wu, Charles Grove, Hui Wang, Ivan Sokirniy, Paul M. Thomas, Young Ah Goo, Nebiyu A. Abshiru, Nobuko Hijiya, Sofie Peirs, Niels Vandamme, Geert Berx, Steven Goosens, Stacy A. Marshall, Emily J. Rendleman, Yoh-hei Takahashi, Lu Wang, Radhika Rawat, Elizabeth T. Bartom, Clayton K. Collings, Pieter Van Vlierberghe, Alexandros Strikoudis, Stephen Kelly, Beatrix Ueberheide, Christine Mantis, Irawati Kandela, Jean-Pierre Bourquin, Beat Bornhauser, Valentina Serafin, Silvia Bresolin, Maddalena Paganin, Benedetta Accordi, Giuseppe Basso, Neil L. Kelleher, Joseph Weinstock, Suresh Kumar, John D. Crispino, Ali Shilatifard and Panagiotis Ntziachristos

Clinical cancer Research, Published OnlineFirst September 17, 2018

Live imaging of stem cells in the germarium of the Drosophila ovary using a reusable gas-permeable imaging chamber

Amy Reilein, Elisa Cimetta, Nina M. Tandon, Daniel Kalderon and Gordana Vunjak-Novakovic

Nature Protocols, published online 22 October 2018

Intercellular Calcium Signaling Induced by ATP Potentiates Macrophage Phagocytosis
Sara Zumerle, Bianca Calı`, Fabio Munari, Roberta Angioni, Francesco Di Virgilio, Barbara Molon, Antonella Viola
Cell Reports 27: 1-10, 2019

Allogenic tissue-specific decellularized scaffolds promote long-term muscle innervation and functional recovery in a surgical diaphragmatic hernia model
Caterina Trevisan, Edoardo Maghin, Arben Dedja, Paola Caccin, Niccolò de Cesare, Chiara Franzin, Daniele Boso, Paola Pesce, Federico Caicci, Francesco Boldrin, Luca Urbani, Paolo De Coppi, Michela Pozzobon, Piero Pavan, Martina Piccoli
Acta Biomaterialia 2019

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study
Alessandra Zanetti, Francesca D’Avanzo, Laura Rigon, Angelica Rampazzo, Daniela Concolino, Rita Barone, Nicola Volpi, Lucia Santoro, Susanna Lualdi, Francesca Bertola, Maurizio Scarpa, Rosella Tomanin
European Journal of Pediatrics, published online 26 th February 2019

CATERINA TREVISAN,MARIO ENRIQUE ALVREZ FALLAS,EDOARDO MAGHIN,CHIARA FRANZIN,PIERO PAVAN,PAOLA CACCIN,ANGELA CHIAVEGATO,EUGENIA CARRARO,DANIELE BOSO,FRANCESCO BOLDRIN,FEDERICO CAICCI,ENRICA BERTIN,LUCA URBANI,ANNA MILAN,CARLO BIZ,LORENZA LAZZARI,PAOLO DE COPPI,MICHELA POZZOBON,MARTINA PICCOLI

Generation of a Functioning and Self-Renewing Diaphragmatic Muscle Construct

STEM CELLS TRANSLATIONAL MEDICINE 2019;00:1–12

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Coordinator

Labs

Model organisms and rare diseases

Neurodevelopmental Molecular Genetics Laboratory

Diagnosis and Therapy of Lysosomal Disorders

Clinical Genetics and Epidemiology

Immunopathology and Molecular Biology of kidney

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