Davide Gabellini

Personal Statement

I have extensive background in performing research on epigenetic gene regulation and FSHD. We were the first to made a connection between deletion of the FSHD-associated D4Z4 repeat and transcriptional de-repression of nearby genes (Cell 110: 339, 2002). Next, we generated the only available mouse model of the disease (Nature, 439: 973, 2006). More recently, we have identified the lncRNA DBE-T as a key regulator of the FSHD locus (Cell, 149: 819, 2012) and we have developed the first RNAi-based gene therapy for dominant muscular dystrophies (Molecular Therapy, 19, 2055, 2011).



2008-present Senior HSR Researcher, Division of Regenerative Medicine, Ospedale San Raffaele, Milano, Italy 2006-present Assistant Telethon Scientist, Dulbecco Telethon Institute (DTI), San Raffaele Scientific Institute, Milano, Italy 2000-2006 Postdoctoral Research Associate, HHMI, University of Massachusetts Medical School, Worcester, MA, USA


Publications (5 of 20 with an h-index of 12)

1. Neguembor MV, Xynos A, Onorati MC, Caccia R, Bortolanza R, Godio C, Pistoni M, Corona DF, Schotta G, Gabellini D. FSHD muscular dystrophy Region Gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis Journal of Molecular Cell Biology 2013 Jun 26. [Epub ahead of print] 2. Xynos A, Neguembor MV, Caccia R, Licastro D, Nonis A, Di Serio C, Stupka E and Gabellini D. Facioscapulohumeral muscular dystrophy region gene 1 over-expression causes primary defects of myogenic stem cells. Journal of Cell Science 2013 May 15;126(Pt 10):2236-45 3. Pistoni E, Shiue L, Cline MS, Bortolanza S, Neguembor MV, Xynos A, Ares M and Gabellini D. Rbfox1 downregulation and altered Calpain 3 splicing by FRG1 in a mouse model of facioscapulohumeral muscular dystrophy (FSHD). PLoS Genetics 9(1):e1003186, 2013 4. Cabianca DS, Casa V, Bodega B, Xynos A, Ginelli E, Tanaka Y, Gabellini D. A long ncRNA links copy number variation to a Polycomb/Trithorax epigenetic switch in FSHD muscular dystrophy. 2012 Cell May 11;149(4):819-31 5. Bortolanza S, Nonis A, Sanvito F, Maciotta S, Sitia G, Wei J, Torrente Y, Di Serio C, Chamberlain JR, Gabellini D. AAV6-mediated systemic shRNA delivery reverses disease in a mouse model of facioscapulohumeral muscular dystrophy. Molecular Therapy 2011 Nov;19(11):2055-64

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