Catalogo dei Corsi di studio

Curriculum vitae

Education
- October 1989: Laurea degree in Biological Sciences (summa cum laude), University "La
Sapienza" of Rome.
- October 1995: PhD in Biotechnology, University of "La Sapienza"- University of L'Aquila.

Positions and Employment
-1992 - 1994: pre-doctoral fellow Dept. of Molecular and Cellular Biology, Copenhagen University, DK
-1995 - 1997: post-doctoral fellow, Dept. of Histology and Medical Embryology, La Sapienza University
-1998 - 1999: post-doctoral fellow, Laboratory of Mammalian Genes and Development, National Institute of Child Health and Development, NIH, Bethesda, USA
-1999 - 2004: Assistant Professor, Department of Psychology, Division of Neuroscience, La Sapienza University of Rome, Italy
- 2005 - present: Associate Professor, Department of Psychology, Division of Neuroscience, Sapienza University of Rome, Italy

Honors
- 1992 Marie Curie EU, two-years Fellowship.
- 1995 Pasteur Institute - Cenci Bolognetti Foundation, two-years Fellowship.
- 1998 Italian National Research Council (CNR), one-year Fellowship.
- 1999 Fogarty International, Laboratory of Mammalian Genes and Development, National Institute of Child Health and Development, NIH, Bethesda, USA.
- ASN 2018-2020 - Qualification as Full Professor of Applied Biology
Other Experience and Professional Membership
- Member of: Society for Neuroscience; European Cell Death Organization; Federation of European Neurosciences; Italian Society for Biology and Genetics; Italian Society for Neuroscience.
- Review Editor, Frontiers in Neuroscience since November 2012.
- Academic Editor, PLOS ONE since October 2019.
- Associate Editor, Frontiers in Molecular Neuroscience, since October 2019.
- Ad-hoc reviewer for: Developmental Biology; Journal of Cellular Physiology; Molecular and
Cellular Neuroscience; Journal of Cell Science; Neuroscience; PLOS ONE; Journal of Alzheimer Disease, Neurochemical Research, Scientific Reports, BMC Medicine.

Teaching appointments
- January 1998 to October 1999: teacher of "gene cloning and analysis of gene expression patterns" in pre-doctoral courses, NICHD, National Institutes of Health, Bethesda, MD, USA.
- 2000 to present: courses of "Biology", "Foundamentals of Neurobiology and Genetics" and
"Neurobiology" at the Faculty of Medicine and Psychology, Sapienza University of Rome;
- 2005 to present: Faculty member of the PhD program of Behavioural Neuroscience, Sapienza University of Rome, mentoring six PhD students.

Contribution to Science
I have a long-term experience in mammalian embryology and developmental neurobiology. At the beginning of my scientific career I studied the developmental regulation of Heat Shock response in mouse oogenesis and preimplantation embryo development. In 1992-1994, working at the Dept. of Molecular and Cell Biology of Copenaghen University, I investigated the molecular regulation of heat shock gene transcription factors (HSFs) and identified novel murine HSF1 and HSF2 splice isoforms having additional 66 (mHSF1) and 54 (mHSF2) "in frame" nucleotides, respectively.

Back to Sapienza University, I continued to work in the same field, developing new micromethods aimed at analyzing molecular processes not approachable by standard techniques, including semi-quantitative RT-PCR mRNA determinations on single oocytes/embryos and transcription factor titrations by intranuclear microinjection of competing oligonucleotides in single living cells. Thereafter, using this methodology, I studied the molecular regulation of zygotic genome transcription and embryo blastomere proliferation in the mouse. I also studied the activity of DNA homologous recombination and DNA nonhomologous end joining in dyctiate oocytes and preimplantation embryos. To accomplish these studies I developed a functional assay based on a novel asymmetric PCR measuring the ability of single oocytes and embryos to recombine intranuclearly injected DNA fragments containing a region of homology of various extents at either the 5' or 3' termini.

During a two years post-doctoral position (1998 - 1999) in Dr. Westphal's laboratory at the NIH of Bethesda, I also became well acquainted with the field of developmental neurobiology. By exploiting the lhx3 null mutant mice, which display pituitary hypoplasia, I identified genes differentially expressed in the developing pituitary gland of wild type and lhx3 null mutant embryos by subtractive hybridization and library screening. This approach led me to identify several novel genes, among which were Tsc22d4, belonging to the family of TGF beta1-stimulated genes. Thereafter, pursuing the functional characterization of this gene I have developed specific tools to investigate neuronal development, with particular reference to the cerebellum.

More recently, my research interests also included the study of molecular and cellular mechanisms underlying neurodegeneration in Alzheimer disease and few years ago I entered the field of genetic rare disease of lysosomal storage. Exploiting genetic mouse model of the Niemann Pick type C disease I have characterized the anomalies of cerebellar morphogenesis in mouse models of Niemann-Pick type C (NPC) disease and the ability of -cyclodextrin to rescue these anomalies. Since a couple of years, collaborating with Dr. Kulkarni, Oraxion Therapeutics, I m involved in the identification and validation of novel -cyclodextrin-based therapeutics for NPC disease.

Ongoing Collaborations
- Dr. Sergio Oddi, Sergio Oddi, European Center for Brain Research (CERC)/Santa Lucia Foundation IRCCS, Rome, Italy;
- Aditya Kulkarni, Oraxion Therapeutics, Bangalore, India, http://www.oraxiontx.com
- Prof. Robert P Erickson (RPE), Dept. of Pediatrics, University of Arizona School of Medicine, Tucson, AZ, 85724-5073, USA.
- Dr. Andrea Dardis, Regional Centre for Rare Diseases, Hospital of Udine, Italy.

Grants
- 2019 Ara Parseghian Medical Foundation, investigating Niemann Pick C pathophysiology in mouse models ; Euro 20000,00 (PI)
- 2017 Oraxion Therapeutics donation, Characterizing the efficacy of a -cyclodextrin prodrug in Niemann Pick C mouse models; Euro 20000,00 (PI)
- 2016 - Sapienza Visiting Professor - Robert Porter Erickson; Euro 5000,00 (PI)
- 2016 Sapienza Investigating abnormal cerebellum morphogenesis in Niemann-Pick C 1 disease and the potential of novel therapeutic approaches ; Euro 11000,00 (PI)
- 2013 Fondazione Telethon, Enligthening molecular mechanisms of abnormal cerebellum development in mouse models of human Niemann-Pick C 1 disease: the efficacy of hydroxyproplyl- -cyclodextrin in correcting the phenotype ; Euro 111700,00 (PI)
- 2012 - Sapienza Grandi e medie attrezzature ; Euro 19000,00 (PI)
- 2012 - Sapienza Visiting Professor - Robert Porter Erickson; Euro 8100,00 (PI)
- 2012 - EC FP7 DevelAge - Pathways common to brain development and ageing ; Euro 110000,00 (Co-PI)
- 2010 - Sapienza How many roles for TSC22D4 protein in cerebellum granule neurons of the mouse: isoforms' subcellular localization and functional interactions ; Euro 5000,00 (PI)
- 2008 - Sapienza Caratterizzazione del ruolo funzionale del gene Thg-1pit nella regolazione del bilancio tra proliferazione/differenziamento e apoptosi nei granuli cerebellari del topo ; Euro 6000,00 (PI)
- 2008 - Sapienza Un approccio molecolare ed elettrofisiologico allo studio dello sviluppo dei circuiti della corteccia cerebellare ; Euro 5000,00 (PI)
- 2008 - Istituto Pasteur - Fondazione Cenci Bolognetti Molecular regulation of cell proliferation and apoptosis in early embryo blastomeres and granule neuron precursors of the mouse ; Euro 45000,00 (co-PI)

Publications (last 5 years)
1. Monti N, Cavallaro RA, Stoccoro A, Nicolia V, Scarpa S, Kovacs GG, Fiorenza MT, Lucarelli M, Aronica E, Ferrer I, Coppedè F, Troen AM, Fuso A. (2020) CpG and non-CpG Presenilin1 Methylation Pattern in Course of Neurodevelopment and Neurodegeneration Is Associated With Gene Expression in Human and Murine Brain. Epigenetics 5;1-19. doi: 10.1080/15592294.2020.1722917

2. Erickson RP, Aras S, Purandare N, Hüttemann M, Liu J, Dragotto J, Fiorenza MT, Grossman LI. (2020) Decreased Membrane Cholesterol in Liver Mitochondria of the Point Mutation Mouse Model of Juvenile Niemann-Pick C1, Npc1 nmf164. Mitochondrion, 51, 15-21

3. Fiorenza MT, Rava A. (2019) The TCL1 function revisited focusing on metabolic requirements of stemness. Cell Cycle,18(22):3055-3063. doi: 10.1080/15384101.2019.1672465.

4. Fiorenza MT, Russo G, Narducci MG, Bresin A, Mangia F, Bevilacqua A. Protein kinase Akt2/PKB is involved in blastomere proliferation of preimplantation mouse embryos. J Cell Physiol. 2019 Sep 25. doi: 10.1002/jcp.29229.

5. Dragotto J, Palladino G, Canterini S, Caporali P, Patil R, Fiorenza MT, Erickson RP (2019) Decreased neural stem cell proliferation and olfactionin mouse models of Niemann-Pick C1 disease and the response to hydroxypropyl- -cyclodextrin. Journal of Applied Genetics, 60:357-365. doi.org/10.1007/s13353-019-00517-8

6. Oddi S, Caporali P, Dragotto J, Totaro A, Maiolati M, Scipioni L, Angelucci CB, Orsini C, Canterini S, Rapino C, Maccarrone M, Fiorenza MT (2019) The endocannabinoid system is affected by cholesterol dyshomeostasis: Insights from a murine model of Niemann Pick type C disease. Neurobiol Dis. 130:104531. doi: 10.1016/j.nbd.2019.104531.

7. Lucarelli M, Di Pietro C, La Sala G, Fiorenza MT, Marazziti D, Canterini S. (2019) Anomalies in Dopamine Transporter Expression and Primary Cilium Distribution in the Dorsal Striatum of a Mouse Model of Niemann-Pick C1 Disease. Front Cell Neurosci 13:226. doi: 10.3389/fncel.2019.00226.

8. Dragotto J, Canterini S, Del Porto P, Bevilacqua A, Fiorenza MT (2019) The interplay between TGF- -stimulated TSC22 domain family proteins regulates cell-cycle dynamics in medulloblastoma cells. J Cell Physiol. 234(10):18349-18360. doi: 10.1002/jcp.28468.

9. Bresin A, Ragone G, Cristofoletti C, Arcelli D, Bassi C, Caprini E, Fiorenza MT, Helmer Citterich M, Russo G, Narducci MG. (2018) T Cell Leukemia/Lymphoma 1A is essential for mouse epidermal keratinocytes proliferation promoted by insulin-like growth factor 1. PLoS One 13:e0204775. doi: 10.1371/journal.pone.0204775.

10. Kulkarni A, Caporali P, Dolas A, Johny S, Goyal S, Dragotto J, Macone A, Jayaraman R and Fiorenza MT. (2018) Linear Cyclodextrin Polymer Prodrugs as Novel Therapeutics for Niemann-Pick Type C1 Disorder. Scientific Reports 8:9547 doi:10.1038/s41598-018-27926-9
11. Fiorenza MT, Moro E, Erickson RP. (2018) The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to abnormal development and neuroinflammation. Hum Mol Genet 27(R2):R119-R129 doi: 10.1093/hmg/ddy155.
10. Pipolo S, Puglisi R, Mularoni V, Esposito V, Fuso A, Lucarelli M, Fiorenza MT, Mangia F, Boitani C. (2018) Involvement of sperm acetylated histones and the nuclear isoform of Glutathione peroxidase 4 in fertilization. J Cell Physiol. 233:3093-3104

12. Erickson RP, Fiorenza MT. (2017) A hopeful therapy for Niemann Pick C diseases
Lancet, 390 (10104):1720-1721.

13. Cavallaro RA, Nicolia V, Fiorenza MT, Scarpa S, Fuso A. (2017) S-Adenosylmethionine and Superoxide Dismutase 1 Synergistically Counteract Alzheimer's Disease Features Progression in TgCRND8 Mice. Antioxidants (Basel), Sep 30;6(4).

14. Campus P, Canterini S, Orsini C, Fiorenza MT, Puglisi-Allegra S, Cabib S. (2017) Stress-Induced Reduction of Dorsal Striatal D2 Dopamine Receptors Prevents Retention of a Newly Acquired Adaptative Cope Strategy. Front Pharmacol. 8:621

15. S Canterini, J Dragotto, A Dardis, S Zampieri, ME De Stefano, F Mangia, RP Erickson, MT Fiorenza (2017) Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease. Hum Mol Genet. 26: 2277-2289

16. Palladino G, Nicolia V, Kovacs GG, Canterini S, Ciraci V, Fuso A, Mangia F, Scarpa S, Fiorenza MT. (2017) Sexually Dimorphic Expression of Reelin in the Brain of a Mouse Model of Alzheimer Disease. J Mol Neurosci. 61:359-367

17. Caporali P, Bruno F, Palladino G, Dragotto J, Petrosini L, Mangia F, Erickson RP, Canterini S, Fiorenza MT. (2016) Developmental delay in motor skill acquisition in Niemann-Pick C1 mice reveals abnormal cerebellar morphogenesis. Acta Neuropathol Commun. 4:94

18. Dardis A, Zampieri S, Canterini S, Newell KL, Stuani C, Murrell JR, Ghetti B, Fiorenza MT, Bembi B, Buratti E. (2016) Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C. Acta Neuropathol Commun. 4:52

19. Bresin A, D'Abundo L, Narducci MG, Fiorenza MT, Croce CM, Negrini M, Russo G. (2016) TCL1 transgenic mouse model as a tool for the study of therapeutic targets and microenvironment in human B-cell chronic lymphocytic leukemia. Cell Death Dis. 7:e2071.

20. Palladino G, Loizzo S, Fortuna A, Canterini S, Palombi F, Erickson RP, Mangia F, Fiorenza MT. (2015) Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrin. Orphanet J Rare Dis.10:133

21. Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M. (2015) Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizure and Down syndrome-like facies
Am J Hum Genet. 96:816-25

22. Mione V, Canterini S, Brunamonti E, Pani P, Donno F, Fiorenza MT, Stefano Ferraina (2015). Both COMT Val158Met single nucleotide polymorphism and sex-dependent differences influence response inhibition. Front Behav Neurosci. 9:127

23. Dragotto J, Capuozzo E, Fontana M, Curci A, Fiorenza MT, Canterini S. (2015) Thiotaurine protects mouse cerebellar granule neurons from potassium deprivation-induced apoptosis by inhibiting the activation of caspase-3. Adv Exp Med Biol. 803:513-23

Complete List of Published Work:
https://www.ncbi.nlm.nih.gov/pubmed/?term=Fiorenza+MTD.