Group leader,
Molecular Pathology
International Centre for Genetic Engineering and Biotechnology
Padriciano 99
34149 Trieste, Italy
E-mail: [email protected]
Tel: +39-040-3757316
Education
University of Trieste, Trieste, Italy, BSc in Biochemistry, 1989
University of Trieste, Trieste, Italy, PhD in Biochemistry, 1993
Career History
Since 2013 – Group Leader, Molecular Pathology Laboratory, International Centre for Genetic Engineering and Biotechnology, ICGEB, Trieste, Italy
Since 2012– Member, Board of Directors, International Society for Frontotemporal Dementias
Since 2011– Academic Editor, PLoS ONE
1998-2012 – Staff Research Scientist, ICGEB Trieste, Italy
1995-1997– Postdoc, ICGEB Trieste, Italy
Scientific Activity
Since beginning his postdoctoral work, the principal areas of Dr. Buratti’s expertise have been the investigation of RNA binding proteins/structure and their influence on translation and alternative splicing processes. In 2001, as part of a research project on Cystic Fibrosis, he identified nuclear protein TDP-43 as a potential CFTR exon 9 pre-mRNA splicing regulator. As a result, in the following years he has performed several basic studies on the biochemical and functional properties of this protein that have been of great advantage to the scientific community when its role in neurodegeneration was first reported in 2006. Since then, Dr. Buratti research has primarily focused on investigating the potential pathophysiological role played by TDP-43 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis, and in better understanding the functional roles played by this protein (ie. microRNA biogenesis and splicing regulation, shuttling nuclear/cytosplamic properties, autoregulatory processes, and so forth).
Selected publications
E. Buratti on PubMed
ORCID number: https://orcid.org/0000-0002-1356-9074
Newell K., Paron F., Mompeán M., Murrell J., Salis E., Stuani C., Pattee G., Romano M., Laurents D., Ghetti B., and E. Buratti. Dysregulation of TDP-43 Intracellular Localization and Early-Onset ALS are Associated with a TARDBP S375G Variant. Brain Pathology, 2019, 29: 397-413.
Goina E., Peruzzo P, Bembi B, Dardis A., and Buratti E. Glycogen reduction in myotubes of late-onset Pompe disease patients using antisense technology. Molecular Therapy, 2017, 25: 2117-2128
Appocher C., Mohagheghi F., Cappelli S., Stuani C., Romano M., Feiguin F., and Buratti E. Major hnRNP proteins act as general TDP-43 functional modifiers both in Drosophila and human neuronal cells. Nucleic Acids Research, 2017, 45:8026-8045
De Conti L., Akinyi M.V., Mendoza-Maldonado R., Romano M. , Baralle M. and Buratti E. TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathways. Nucleic Acids Research, 2015, 43: 8990-9005.
Mompean M., Romano V., Pantoja-Uceda D., Stuani C., Baralle F.E., Buratti E.*, and Laurents D.V.* Point mutations in transactive response DNA-binding protein 43 (TDP-43)’s N-terminal domain compromise its stability, dimerization and functions. Journal of Biological Chemistry, 2017, 292:11992-12006 *co-corresponding authors.
Dardis A., Zampieri S., Canterini S., Murrell J., Newell K., Stuani C., Ghetti B., Fiorenza M.T., Bembi B., Buratti E. Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in Niemann- Pick Disease Type C. Acta Neuropathologica Communications, 2016, 4: 52.
Lukavsky P.J., Daujotyte D., Tollervey J.R., Ule J., Stuani C., Buratti E., Baralle F.E., Damberger F.F., Allain F.H-T. Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43. Nature Structural and Molecular Biology, 2013, 20: 1443-1449.
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). Misregulation of human sortilin splicing leads to the generation of a non-functional progranulin receptor. PNAS (USA), 2012, 109: 21510-21515.
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. TDP-43 mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis. Science, 2008, 319: 1668-1672.
Buratti E., Dörk T., Zuccato E., Pagani F., Romano M., Baralle F.E. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO Journal 2001, 20: 1774-1784.