Group Leader
ICGEB
Curriculum Vitae
Emanuele Buratti is Group Leader of the Molecular Pathology lab at the International Centre for Genetic Engineering and Biotechnology in Trieste, Italy (ICGEB, http://www.icgeb.org/molecular-pathology.html). He studied Biology at the University of Trieste from 1984 to 1989 to obtain a Biology degree with maximum marks (110/110). In 1993 he obtained a PhD course in Biochemistry working in the BBCM Department of the University of Trieste. In 1995 he received a post-doctoral Italian grant from the Istituto Superiore della Sanità (ISS) and moved to ICGEB to participate in a vaccine research project within the HIV/HCV research fields. Since then, research interests have mostly included the study of RNA binding proteins in various aspects of RNA metabolism, especially pre-mRNA splicing processes. In 1998, Dr. Buratti was nominated Staff Research Scientist (United Nations Professional Job Category). In 2001, he identified nuclear protein TDP-43 as a potential pre-mRNA splicing regulator. Recent research has been primarily focused at investigating the role played by this protein in neurodegeneration and in the neuropathological symptoms of metabolic diseases such as Niemann-Pick C (NPC). He is the author of more than 160 research papers in peer-reviewed publications and of several articles in scientific books on these subjects (orcid.org/0000-0002-1356-9074).
Academic Societies, Editorial Duties and Grant-funding panels.
He has served from 2012 to 2016 as a member of the Board of Directors in the newly created International Society for Frontotemporal Dementias (www.isftd.org). Starting from 2017, he has joined the Scientific Committee of the Italian Frontotemporal Dementia Patient Association (AIMFT) (www.frontotemporale.it). Since 2011, he has been part as Academic Editor at PLoS ONE and in 2015 he became a member of the Editorial Board of Journal of Biological Chemistry (JBC) and of the American Society for Biochemistry and Molecular Biology (ASBMB, www.asbmb.org). Since 2017, he was elected as Expert Panel Member to the Med5 panel of the FWO, Belgium (www.fwo.be), the agency that supports ground-breaking fundamental and strategic research at the universities of the Flemish Community.
Teaching Activities.
Since 2009, Prof. Buratti has been Contract Professor at the Life Sciences Department of the University of Trieste (https://dsv.units.it/it/dipartimento/persone/personale-docente?q=it/node/1530) to teach the Molecular Medicine (2009-2015), Transcriptomic (2015-2017) and RNA Therapeutics (2018-onward) courses within the Medical Biotechnologies and Functional Genomics degree courses.
Academic Committees.
Since 2008, I have acted as an external examiner for the PhD program in Biomedical Science and Biotechnology at the University of Udine (Italy) and as internal examiner for ICGEB students that enroll in the PhD program at the University of Nova Goriza (Slovenia). From 2013-2018, I was part of the Doctoral College in the Biomedical Science and Biotechnology at the University of Ferrara (Italy). Since 2018, I have joined the Faculty of the Joint PhD Program in Molecular Biology (JuMBO) composed bythe SISSA, ICGEB, University of Trieste and of Udine. Since 2018 he has become Scientific Council Member of the graduate study programme Molecular Genetics and Biotechnology at the University of Nova Gorica, Slovenia. http://www.ung.si/en/study/graduate-school/study/3MG/.
University Teaching Habilitation
Dr. Buratti has recently received the following Habilitations from the Italian Agenzia per la valutazione del sistema Universitario e della ricerca (ANVUR) that are valid from 05/04/2018 to 05/04/2024:
Full Professor 05/E2 – Molecular Biology SSD BIO/11
Full Professor 05/E1 – General BiochemistrySSD BIO/10
Full Professor 05/F1 – Applied Biology SSD BIO/13
Full Professor 06/A2 – General Pathology and Clinical Pathology SSD MED/04
Recent Research Support.
In the last five years, Dr. Buratti’s research has been supported by ICGEB intramural funding and by the following research and governmental agencies both from Italy, European Commission, and various foreign countries:
1) JPND (EU Joint Programme –Neurodegenerative Disease Research), European Union(2014-2017) with a project, RIMod-FTD (Risk and Modifying Factors in Fronto-temporal Dementia). Italian PIs: Patrizia Longone (Istituto Santa Lucia, Rome), Antonella Alberici (Spedali Civili Brescia), Emanuele Buratti (ICGEB, Trieste). Amount: 100.000 €.
2) Thierry Latran Foundation, France(2013-2016) with a project REHNPALS (Role of hnRNP proteins in ALS). Role: PI. Amount: 123.000 €.
3) Telethon, Italy(2014-2017), Grant Number: GGP14192, focused on the“Identification of new therapeutic agents for the treatment of Glycogenosis type 2 due to the common splicing mutation c.-32-13TG”. Role: PI. Amount: 268.200 €.
4) Scientific Cooperation between Italy and Israel(2016-2017), Project Screencells4ALS. Role: Italian PI. (Israeli PI: Miguel Weil, Tel Aviv University). Amount: 100.000 €.
5) Beneficientia Stiftung, Luxembourg, 2018-2019:project: Involvement of RNA binding proteins in the neurological defects of Niemann-Pick type C: a new therapeutic target for the disease. Role: PI. Amount: 25.000 €.
6) AFM Telethon, France, 2018-2019: project: Screening for splicing-modifying factors for late onset Pompe Disease (SPLICESCREENPD). Role: PI. Amount: 55.000 €.
7) Beneficientia Stiftung, Luxembourg, 2019-2020:project: Parkinson biomarkers identification. Role: PI. Amount: 25.000 €.
8) AriSLA Foundation, Italy. 2018-2021: project: Defining the role of hnRNP proteins in enhancing TDP-43 pathology. Role: PI. Amount: 208.980 €.
Selected publications:
1)Glycogen reduction in myotubes of late-onset Pompe disease patients using antisense technology.Goina E., Peruzzo P, Bembi B, Dardis A., and Buratti E.Molecular Therapy, 2017,25: 2117-2128.
2)Major hnRNP proteins act as general TDP-43 functional modifiers both in Drosophila and human neuronal cells.Appocher C., Mohagheghi F., Cappelli S., Stuani C., Romano M., Feiguin F., and Buratti E.Nucleic Acids Research, 2017, 45:8026-8045.
3) TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathways. De Conti L., Akinyi M.V., Mendoza-Maldonado R., Romano M. , Baralle M. and Buratti E.Nucleic Acids Research, 2015, 43: 8990-9005.
4) Point mutations in transactive response DNA-binding protein 43 (TDP-43)'s N-terminal domain compromise its stability, dimerization and functions. Mompean M., Romano V., Pantoja-Uceda D., Stuani C., Baralle F.E., Buratti E.*, and Laurents D.V.* Journal of Biological Chemistry, 2017, 292:11992-12006*co-corresponding authors.
5)Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in Niemann- Pick Disease Type C.Dardis A., Zampieri S., Canterini S., Murrell J., Newell K., Stuani C., Ghetti B., Fiorenza M.T., Bembi B., Buratti E.Acta Neuropathologica Communications, 2016, 4: 52.
6) TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathways.De Conti L., Akinyi M.V., Mendoza-Maldonado R., Romano M. , Baralle M. and Buratti E.Nucleic Acids Research, 2015, 43: 8990-9005.
7)Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43. Lukavsky P.J., Daujotyte D., Tollervey J.R., Ule J., Stuani C., Buratti E., Baralle F.E., Damberger F.F., Allain F.H-T.Nature Structural and Molecular Biology, 2013, 20: 1443-1449.
8)Misregulation of human sortilin splicing leads to the generation of a non-functional progranulin receptor.Prudencio M., Jansen-West K.R., Lee W.C.,Gendron T.F., Zhang Y-J, Xu Y-F, Gass J., Stuani C., Stetler C., Rademakers R., Dickson D.W., Buratti E.*, Petrucelli L.*. (*co-corresponding authors). PNAS (USA), 2012, 109: 21510-21515.
9)TDP-43 mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis. Sreedharan J., Blair I.P., Tripathi V.B., Hu X., Vance C., Rogelj B., Ackerley S., Durnall J.C., Williams K.L., Buratti E., Baralle F., de Belleroche J., Mitchell J.D., Leigh P.N., Al-Chalabi A., Miller C.C., Nicholson G., and Shaw C.E.Science, 2008, 319: 1668-1672.
10)Nuclear factor TDP-43 and SR proteins promote in vitroand in vivoCFTR exon 9 skipping.Buratti E., Dörk T., Zuccato E., Pagani F., Romano M., Baralle F.E. EMBO Journal 2001, 20: 1774-1784.