Alessandro Bulfone curriculum vitae

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1 Alessandro Bulfone curriculum vitae Educazione Università di Torino, Laurea in Medicina (1987) Università di Torino, Specialità in Neurologia (1991) Esperienze professionali Specializzando in Neurologia, Laboratorio di Neuropatologia, Università di Torino. Direttore Prof. Davide Schiffer Visiting Scholar, Nancy Pritzker Laboratory of Developmental and Molecular Neurobiology, Department of Psychiatry, Stanford University, USA. Advisor John L.R. Rubenstein, MD/PhD Postdoctoral Fellow, Laboratory of Neurogenetics, Department of Psychiatry, University of California, San Francisco, USA. Advisor John L.R. Rubenstein, MD/PhD Postdoctoral Fellow, Nina Ireland Laboratory of Developmental Neurobiology, Department of Psychiatry, University of California, San Francisco, USA. Advisor John L.R. Rubenstein, MD/PhD Ricercatore - Telethon Institute of Genetics and Medicine (TIGEM), Milano. Direttore Prof. Andrea Ballabio Ricercatore Principal Investigator, Stem Cell Research Institute (SCRI), Scientific Institute San Raffaele-DIBIT, Milano Consulente per l ambito biomedico di Sardegna Ricerche Ente della Regione Sardegna per la promozione e lo sviluppo economico - Parco Scientifico Polaris Pula (CA) Consulente per gli studi preclinici di Fase1 Srl Responsabile per il settore biomedico del CRS4 (Centro Ricerche Sviluppo Studi Superiori in Sardegna) oggi 1

2 Attività di revisione scientifica Sono stato coinvolto nelle attività di revisione di progetti scientifici e di articoli per diverse agenzie e riviste, tra cui a livello internazionale la National Science Foundation, Development, Mechanism of Development, Human Genetics, Genomics, Journal of Neuroscience. Attività di insegnamento Sono stato coinvolto nel tutoraggio di studenti di dottorato post-laurea presso il laboratorio di neurobiologia dello sviluppo a UCSF, nella organizzazione di corsi di neurologia dello sviluppo alla Università Vita e Salute HSR e del corso di dottorato internazionale della Open University, in Molecular and Cellular Biology. Nell anno 2007 ho organizzato e diretto un master post-universitario di R&D di nuovi agenti diagnostici e terapeutici presso il Parco Scientifico Polaris Pula (CA). Competenze complementari Ottima conoscenza della lingua inglese sia parlata che scritta, ottima padronanza della comunicazione scientifica e dei principali strumenti informatici applicati alla ricerca biomedica molecolare e clinica. Pubblicazioni Scientifiche h index=38 google scholar profile: 1. Barollo S, Pezzani R, Cristiani A, Bertazza L, Rubin B, Bulfone A, Pelizzo MR, Torresan F, Mantero F, Pennelli G, Moro S, Mian C. Functional significance of the novel H-RAS gene mutation M72I in a patient with medullary thyroid cancer. Exp Clin Endocrinol Diabetes Oct;121(9): Mazzoleni S, Jachetti E, Morosini S, Grioni M, Piras IS, Pala M, Bulfone A, Freschi M, Bellone M, Galli R. Gene signatures distinguish stage-specific prostate cancer stem cells isolated from transgenic adenocarcinoma of the mouse prostate lesions and predict the malignancy of human tumors. Stem Cells Transl Med Sep;2(9): Gagliani N, Magnani CF, Huber S, Gianolini ME, Pala M, Licona-Limon P, Guo B, Herbert DR, Bulfone A, Trentini F, Di Serio C, Bacchetta R, Andreani M, Brockmann L, Gregori S, Flavell RA, Roncarolo MG. Coexpression of CD49b and LAG-3 identifies human and mouse T regulatory type 1 cells. Nat Med Jun;19(6):

3 4. Ranzani M, Cesana D, Bartholomae CC, Sanvito F, Pala M, Benedicenti F, Gallina P, Sergi LS, Merella S, Bulfone A, Doglioni C, von Kalle C, Kim YJ, Schmidt M, Tonon G, Naldini L, Montini E. Lentiviral vector-based insertional mutagenesis identifies genes associated with liver cancer. Nat Methods Feb;10(2): McMurchy AN, Gillies J, Gizzi MC, Riba M, Garcia-Manteiga JM, Cittaro D, Lazarevic D, Di Nunzio S, Piras IS, Bulfone A, Roncarolo MG, Stupka E, Bacchetta R, Levings MK. A novel function for FOXP3 in humans: intrinsic regulation of conventional T cells. Blood Feb 21;121(8): Floris M, Sabbadin D, Medda R, Bulfone A, Moro S. Adenosiland: walking through adenosine receptors landscape. Eur J Med Chem Dec;58: Corno D, Pala M, Cominelli M, Cipelletti B, Leto K, Croci L, Barili V, Brandalise F, Melzi R, Di Gregorio A, Sergi LS, Politi LS, Piemonti L, Bulfone A, Rossi P, Rossi F, Consalez GG, Poliani PL, Galli R. Gene signatures associated with mouse postnatal hindbrain neural stem cells and medulloblastoma cancer stem cells identify novel molecular mediators and predict human medulloblastoma molecular classification. Cancer Discov Jun;2(6): Magri L, Cambiaghi M, Cominelli M, Alfaro-Cervello C, Cursi M, Pala M, Bulfone A, Garcìa-Verdugo JM, Leocani L, Minicucci F, Poliani PL, Galli R. Sustained activation of mtor pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions. Cell Stem Cell Nov 4;9(5): Pombero A, Bueno C, Saglietti L, Rodenas M, Guimera J, Bulfone A, Martinez S. Pallial origin of basal forebrain cholinergic neurons in the nucleus basalis of Meynert and horizontal limb of the diagonal band nucleus. Development Oct;138(19): Mazzoleni S, Politi LS, Pala M, Cominelli M, Franzin A, Sergi Sergi L, Falini A, De Palma M, Bulfone A, Poliani PL, Galli R. Epidermal Growth Factor Receptor Expression Identifies Functionally and Molecularly Distinct Tumor-Initiating Cells in Human Glioblastoma Multiforme and Is Required for Gliomagenesis. Cancer Res Oct 1;70(19): Méndez-Gómez HR, Vergaño-Vera E, Abad JL, Bulfone A, Moratalla R, de Pablo F, Vicario-Abejón C. The T-box brain 1 (Tbr1) transcription factor inhibits astrocyte formation in the olfactory bulb and regulates neural stem cell fate. Mol Cell Neurosci Aug Hurtado-Chong A, Yusta-Boyo MJ, Vergaño-Vera E, Bulfone A, de Pablo F, Vicario-Abejón C. IGF-I promotes neuronal migration and positioning in the olfactory bulb and the exit of neuroblasts from the subventricular zone. Eur J Neurosci Sep;30(5):

4 13. Pinto L, Mader MT, Irmler M, Gentilini M, Santoni F, Drechsel D, Blum R, Stahl R, Bulfone A, Malatesta P, Beckers J, Götz M. Prospective isolation of functionally distinct radial glial subtypes--lineage and transcriptome analysis. Mol Cell Neurosci May;38(1): Rizzolio F, Bione S, Villa A, Berti E, Cassetti A, Bulfone A, Tribioli C, Toniolo D. Spatial and temporal expression of POF1B, a gene expressed in epithelia. Gene Expr Patterns Feb;7(4): Quinn JC, Molinek M, Martynoga BS, Zaki PA, Faedo A, Bulfone A, Hevner RF, West JD, Price DJ. Pax6 controls cerebral cortical cell number by regulating exit from the cell cycle and specifies cortical cell identity by a cell autonomous mechanism. Dev Biol Feb 1;302(1): Bulfone A, Carotenuto P, Faedo A, Aglio V, Garzia L, Bello AM, Basile A, Andre A, Cocchia M, Guardiola O, Ballabio A, Rubenstein JL, Zollo M. Telencephalic embryonic subtractive sequences: a unique collection of neurodevelopmental genes. J Neurosci Aug 17;25(33): Lavorgna G, Triunfo R, Santoni F, Orfanelli U, Noci S, Bulfone A, Zanetti G, Casari G. AntiHunter 2.0: increased speed and sensitivity in searching BLAST output for EST antisense transcripts. Nucleic Acids Res Jul 1; Englund C, Fink A, Lau C, Pham D, Daza RA, Bulfone A, Kowalczyk T, Hevner RF. Pax6, Tbr2, and Tbr1 are expressed sequentially by radial glia, intermediate progenitor cells, and postmitotic neurons in developing neocortex. J Neurosci Jan 5;25(1): Faedo A, Quinn JC, Stoney P, Long JE, Dye C, Zollo M, Rubenstein JL, Price DJ, Bulfone A. Identification and characterization of a novel transcript down-regulated in Dlx1/Dlx2 and up-regulated in Pax6 mutant telencephalon. Dev Dyn Nov;231(3): Bulfone A, Caccioppoli C, Pardini C, Faedo A, Martinez S, Banfi S. Pcp4l1, a novel gene encoding a Pcp4-like polypeptide, is expressed in specific domains of the developing brain. Gene Expr Patterns May;4(3): Faedo A, Ficara F, Ghiani M, Aiuti A, Rubenstein JL, Bulfone A. Developmental expression of the T-box transcription factor T-bet/Tbx21 during mouse embryogenesis. Mech Dev Aug;116(1-2): Tarozzo G, Campanella M, Ghiani M, Bulfone A, Beltramo M. Expression of fractalkine and its receptor, CX3CR1, in response to ischaemia-reperfusion brain injury in the rat. Eur J Neurosci May;15(10): Barbieri AM, Broccoli V, Bovolenta P, Alfano G, Marchitiello A, Mocchetti C, Crippa L, Bulfone A, Marigo V, Ballabio A, Banfi S. Vax2 inactivation in mouse determines 4

5 alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma. Development Feb;129(3): Pierantoni GM, Bulfone A, Pentimalli F, Fedele M, Iuliano R, Santoro M, Chiariotti L, Ballabio A, Fusco A. The homeodomain-interacting protein kinase 2 gene is expressed late in embryogenesis and preferentially in retina, muscle, and neural tissues. Biochem Biophys Res Commun Jan 25;290(3): Ferrante MI, Ghiani M, Bulfone A, Franco B. IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system. Gene Sep 19;275(2): Bourgeois F, Guimiot F, Mas C, Bulfone A, Levacher B, Moalic JM, Simonneau M. Identification and isolation of a full-length clone of mouse GMFB (Gmfb), a putative intracellular kinase regulator, differentially expressed in telencephalon. Cytogenet Cell Genet. 2001;92(3-4): Hevner R F, Shi L, Justice N, Hsueh YP, Sheng M, Smiga S, Bulfone A, Goffinet AM, Rubenstein JLR. Tbr1 regulates differentiation of the preplate and layer 6. Neuron, 2001 Feb;29(2): Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet Mar;68(3): Di Cunto F, Imarisio S, Hirsch E, Bulfone A, Broccoli V, Migheli A, Aztori C, Turco E, Triolo R, Dotto GP, Silengo L, Altruda F. Defective neurogenesis in Citron Kinase knockout mice by massive apoptosis associated with altered cytokinesis. Neuron, 2000 Oct;28(1): Buchner G, Broccoli V, Bulfone A, Orfanelli U, Gattuso C, Ballabio A, Franco B. MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives. Mech Dev Nov;98(1-2): Buanne P, Corrente G, Micheli L, Palena A, Lavia P, Spadafora C, Lakshmana MK, Rinaldi A, Banfi S, Quarto M, Bulfone A, Tirone F. Cloning of PC3B, a novel member of the PC3/BTG/TOB family of growth inhibitory genes, highly expressed in the olfactory epithelium. Genomics Sep 15;68(3): Puelles L, Kuwana E, Puelles E, Bulfone A, Shimamura K, Keleher J, Smiga S, Rubenstein JL. Pallial and subpallial derivatives in the embryonic chick and mouse telencephalon, traced by the expression of the genes dlx-2, emx-1, nkx-2.1, pax-6, and tbr-1. J Comp Neurol 2000 Aug 28;424(3): Bulfone A, Menguzzato E, Broccoli V, Marchitiello A, Gattuso C, Mariani M, Consalez GG, Martinez S, Ballabio A, Banfi S. Barhl1, a gene belonging to a new 5

6 subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS. Hum Mol Genet 2000 May 22;9(9): Mas C, Bourgeois F, Bulfone A, Levacher B, Mugnier C, Simonneau M. Cloning and expression analysis of a novel gene, RP42, mapping to an autism susceptibility locus on 6q16. Genomics 2000 Apr 1;65(1): De Grandi A, Calvari V, Bertini V, Bulfone A, Peverali G, Camerino G, Borsani G, Guioli S. The expression pattern of a mouse doublesex-related gene is consistent with a role in gonadal differentiation. Mech Dev 2000 Feb;90(2): Bassi MT, Sperandeo MP, Incerti B, Bulfone A, Pepe A, Surace EM, Gattuso C, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Andria G, Ballabio A, Borsani G, Sebastio G. SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family. Genomics 1999 Dec 1;62(2): Reymond A, Volorio S, Merla G, Al-Maghtheh M, Zuffardi O, Bulfone A, Ballabio A, Zollo M. Evidence for interaction between human PRUNE and nm23-h1 NPDKinase. Oncogene 1999 Dec 2;18(51): Bassi MT, Sperandeo MP, Incerti B, Bulfone A, Pepe A, Surace M, Gattuso C, De Grandi A, Buoniconti A, Riboni M, Manzoni M, Andria G, Ballabio A, Borsani G, Sebastio G. SLC7A8, A gene mapping within the Lysinuric Protein Intolerance critical region, encodes a new member of the glycoprotein associated aminoacid transporter family. Genomics 1999 Dec 1;62(2): Barbieri AM, Lupo G, Bulfone A, Andreazzoli M, Mariani M, Fougerousse F, Consalez GG, Borsani G, Beckmann JS, Barsacchi G, Ballabio A, Banfi S. A homeobox gene, vax2, controls the patterning of the retina dorso-ventral axis. Proc Natl Acad Sci U S A. 96: , Rubenstein JLR, Anderson S, Shi L, Miyashita-Lin E, Bulfone A, Hevner R. Genetic Control of Cortical Regionalization and Connectivity. Cereb Cortex 9:524-32, Piccini M, Vitelli F, Seri M, Galietta LJV, Moran O, Bulfone A, Banfi S, Pober B, Renieri A. KCNE1 like gene is deleted in amme contiguous gene syndrome: identification and characterization of the human and mouse homologous. Genomics. 60:251-7; Bulfone A, Martinez S, Marigo V, Campanella M, Basile A, Quaderi N, Gattuso C, Rubenstein JLR, Ballabio A. Expression pattern of the Tbr-2 (Eomesodermin) gene during mouse and chick brain development. Mech Dev. 84: , Volta M, Bulfone A, Gattuso C, Rossi E, Mariani M, Consalez GG, Zuffardi O, Ballabio A, Banfi S, Franco B. Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene. Genomics 55: 68-77,

7 44. Borsani G, DeGrandi A, Ballabio A, Bulfone A, Bernard L, Banfi S, Gattuso C, Mariani M, Dixon M, Donnai D, Metcalfe K, Winter R, Robertson M, Axton R, Brown A, van Heyningen V, Hanson I. EYA4, a novel vertebrate gene related to Drosophila eyes absent. Hum Mol Genet 8: 11-23, Bulfone A, Wang F, Hevner R, Anderson S, Cutforth T, Chen S, Meneses J, Pedersen R, Axel R, Rubenstein JL; An olfactory sensory map develops in the absence of normal projection neurons or GABAergic interneurons. Neuron 21: , Bulfone A, Gattuso C, Marchitiello A, Pardini C, Boncinelli E, Borsani G, Banfi S, Ballabio A; The embryonic expression pattern of 40 murine cdnas homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function. Hum Mol Genet 7: , Anderson SA*, Qiu M*, Bulfone A*, Eisenstat, Meneses J, Pedersen R, Rubenstein JLR. Mutations of the homeobox genes Dix-1 and Dix-2 disrupt the striatal subventricular zone and differentiation of late born striatal neurons. Neuron 19: 27-37, * Co-first authors 48. Banfi S, Borsani G, Bulfone A, Ballabio A. Drosophila-related expressed sequences. Hum Mol Genet 6: , Qiu M*, Bulfone A*, Ghattas I, Meneses JJ, Christensen L, Sharpe PT, Presley R, Pedersen RA, Rubenstein JLR: Role of the Dlx homeobox genes in proximodistal patterning of the branchial arches: mutations of Dlx-1, Dlx-2, and Dlx1 and -2 alter morphogenesis of proximal skeletal and soft tissue structures derived from the first and second arches. Dev Biol. 185: ,1997. * Co-first authors 50. Rubboli F, Bulfone A, Bogni S, Marchitiello A, Zollo M, Borsani G, Ballabio A, Banfi S: A mammalian homolog of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms. Genes and function 1: , Hernandez M-C, Andres-Barquin PJ, Martinez S, Bulfone A, Rubenstein JLR, Israel MA: ENC-1: A novel mammalian Kelch -related gene specifically expressed in the nervous system encodes an actin binding protein. J Neurosci. 17:3038, McGuinness T, Porteus MH, Smiga S, Bulfone A, Kingsley C, Qui M, Liu JK, Long J, Czernik A, Xu D, Rubenstein JLR: Sequence, organization and transcription of the Dlx-1 and Dlx-2 locus. Genomics 35:473, Fan C-M, Kuwana E, Bulfone A, Fletcher CF, Copeland NG, Jenkins NA, Crews S, Martinez S, Puelles L, Rubenstein JLR, Tessier-Lavigne M: Expression patterns of two murine homologs of Drosophila single-minded suggest possible roles in embryonic patterning and in the pathogenesis of Down syndrome. Mol Cell Neurosci. 7:1,

8 54. Bulfone A, Smiga SM, Shimamura K, Peterson A, Puelles L, Rubenstein JLR: T- Brain-1: A homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex. Neuron 15:1, Qui M, Bulfone A, Martinez S, Meneses JJ, Shimamura K, Pedersen RA, Rubenstein JL: Null mutation of Dlx-2 results in abnormal morphogenesis of proximal first and second branchial arch derivatives and abnormal differentiation in the forebrain. Genes Dev. 9:2523, Compagnone NA, Bulfone A, Rubenstein JL, Mellon SH: Steroidogenic enzyme P450c17 is expressed in the embryonic central nervous system. Endocrinology 136:5212, Compagnone NA, Bulfone A, Rubenstein JLR, Mellon SH: Expression of the steroidogenic enzyme P450scc in the central and peripheral nervous system during rodent embryogenesis. Endocrinology 136:2689, Zhu W, Dahmen J, Bulfone A, Rigolet M, Hernandez M-C, Kuo W-L, Puelles L, Rubenstein JLR, Israel MA: Id gene expression during development and molecular cloning of the human Id-1 gene. Brain Res Mol Brain Res. 30:312, Porteus MH, Bulfone A, Liu J-K, Puelles L, Lo L-C, Rubenstein JLR: DLX-2, MASH- 1, MAP-2 expression, and bromodeoxyuridine incorporation define molecularly distinct cell populations in the embryonic mouse forebrain. J Neurosci. 14:6370, Bulfone A, Kim H-J, Puelles L, Porteus MH, Grippo JF, Rubenstein JLR: The mouse Dlx-2 (Tes-1) gene is expressed in spatially restricted domains of the forebrain, face and limbs in midgestation mouse embryos Mech Dev. 40:129, Bulfone A, Puelles L, Porteus MH, Frohman MA, Martin G, Rubenstein JLR: Spatially restricted expression of Dlx-1, Dlx-2 (Tes-1), Gbx-2 and Wnt-3 in the embryonic day 12.5 mouse forebrain defines potential transverse and longitudinal segmental boundaries. J Neurosci. 13:3155, Porteus MH, Brice AEJ, Bulfone A, Usdin TB, Ciaranello RD, Rubenstein JLR: Isolation and characterization of a library of cdna clones that are preferentially expressed in the embryonic telencephalon. Brain Res Mol Brain Res 12:7, Porteus MH, Bulfone A, Ciaranello RD, Rubenstein JLR: Isolation and characterization of a novel cdna encoding a homeodomain that is developmentally regulated in the ventral forebrain. Neuron 7:221, Mauro A, Bulfone A, Turco E, Schiffer D: Coexpression of platelet-derived growth factor (PDGF) B chain and PDGF B-type receptor in human brain tumor biopsies. Childs Nerv Syst. 7:432,

9 65. Colucci-D'Amato GL, De Franciscis V, Rosati R, Mauro A, Bulfone A, Eva A, Vecchio G. Preferential expression of the dbl proto-oncogene in some neuroectodermal tumors. J Neurosurg Sci 34: 187-8, Mauro A, Bulfone A. Oncogenes and growth factors in gliomas. J Neurosurg Sci 34: 171-3, Mauro A, Bulfone A, Giaccone G, Schiffer D: Simultaneous and successive localization of two antigens in the same tissue section using 3,3-diaminobenzidine and 1-naphtol basic dye. Histochemistry 86:123,