Research Groups

Emanuele Buratti

Molecular Pathology

Group Leader

Research Interests and Description
Group Members

Emanuele Buratti

International Centre for Genetic Engineering and Biotechnology
Padriciano 99
34149 Trieste, Italy

Office tel: +39-040-3757316
Lab tel: +39-040-3757316
Office fax: +39-040-226555


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

Dardis, A., Zampieri, S.,  Canterini, S., Murrell, J., Newell, K., Stuani C., Ghetti, B., Fiorenza, M.T., Bembi, B., Buratti, E. 2016. Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in Niemann- Pick Disease Type C. Acta Neuropathologica Communications 4: 52. PubMed link

Gaweda-Walerych, K., Mohagheghi, F., Zekanowski, C., Buratti, E. 2016. Parkinson’s disease-related gene variants influence pre-mRNA splicing processes. Neurobiology of Aging, 2016, in press.

Buratti, E. 2015. Functional significance of TDP-43 mutations in disease. Advances in Genetics, 2015, 91: 1-53.  PubMed link

De Conti, L., Akinyi ,M.V., Mendoza-Maldonado, R., Romano, M. , Baralle, M. Buratti, E. 2015. TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathways. Nucleic Acids Research, 43: 8990-9005.  PubMed link

Mohagheghi, F., Prudencio, M., Stuani, C., Cook, C, Jansen-West, K., Dickson, D.W., Petrucelli, L., Buratti, E. 2015. TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor. Human Molecular Genetics, 25: 534-545.  PubMed link

Romano, V., Quadri, Z., Baralle, F.E., Buratti, E. 2015. The structural integrity of TDP-43 N-terminus is required for efficient aggregate entrapment and consequent loss of protein function. Prion, 9: 1-9.  PubMed link

Avendaño-Vázquez, S.E., Dhir, A., Bembich, S., Buratti, E., Proudfoot, N., Baralle, F.E. 2012. Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing and alternative polyA site selection. Genes Dev 26, 1679-1684 PubMed link

Zubovic, L., Baralle, M., Baralle, F.E. 2012. Mutually exclusive splicing regulates the Nav 1.6 Sodium channel function through a combinatorial mechanism that involves three distinct splicing regulatory elements and their ligands. Nucleic Acids Res 40, 6255-6269 PubMed link

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. 2012. Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor. Proc Natl Acad Sci USA, 109, 21510-21515 PubMed link

Budini, M., Buratti, E., Stuani, C., Guarnaccia, C., Romano, V., De Conti, L., Baralle, F.E. 2012. Cellular model of TAR DNA-binding protein 43 (TDP-43) aggregation based on its C-terminal Gln/Asn-rich region. J. Biol. Chem. 287, 7512-7525 PubMed link

Budini, M., Romano, V., Bembich, S., Avendaño-Vázquez, S.E., Buratti, E., Baralle, F.E. 2012. Role of selected mutations in the Q/N rich region of TDP-43 in EGFP-12xQ/N-induced aggregate formation. Brain Res. 1462, 139-150 PubMed link

Buratti, E., Baralle, F.E. 2012. TDP43: gumming up neurons through protein-protein and protein-RNA interactions. Trends Biochem Sci 37, 237-247 PubMed link

De Conti L., Baralle M., Buratti E. 2013. Exon and Intron definition in pre-mRNA splicing. WIREs RNA, 2013, 4, 49-60

Buratti E., Baralle M., Baralle F.E. 2012. From single splicing events to thousands: the ambiguous step forwards in splicing research. Brief Funct Genomics 12, 3-12

Passoni M., De Conti L., Baralle M., Buratti E. 2012. UG repeats/TDP-43 interactions near 5'splice sites exert unpredictable effects on splicing modulation. J Mol Biol 415, 46-60

Buratti E. 2012. Evolutionary lessons for 21st century Molecular Biotechnologists. Mol Biotechnol 52, 89-90

Budini M., Buratti E., Stuani C., Guarnaccia C., Romano V., De Conti L., F.E. Baralle. 2012. Cellular Model of TAR DNA-Binding Protein 43 (TDP-43) Aggregation Based on Its C-terminal Gln/Asn -rich Region. J Biol Chem 287, 7512-7525

Romano M., Feiguin F., Buratti E. 2012. Drosophila answers to TDP-43 proteinopathies. J Amino Acids  356081

Budini M., Romano, V., Bembich S., Avendaño-Vázquez S.E., Buratti E., Baralle F.E. 2012. Role of selected mutations in the Q/N rich region of TDP-43 in EGFP-12xQ/N-induced aggregate formation. Brain research 1462, 139-150

Buratti E., F.E. Baralle. 2012. TDP-43: gumming up neurons through protein-protein and protein-RNA interactions. Trends in Biochemical Sciences 37, 237-247

Colombrita C., Onesto E., Megiorni F., Pizzuti A., Baralle F.E., Buratti E., Silani V., Ratti A. 2012. TDP-43 and FUS RNA-binding proteins bind distinct sets of cytoplasmic messenger RNAs and differently regulate their post-transcriptional fate in motoneuron-like cells. J Biol Chem 287, 15635-15647

Buratti E., Baralle D. 2012. Exon skipping mutations in Neurofibromatosis. Methods Mol Biol 867, 65-76

De Conti L., Skoko N., Buratti E., Baralle M. 2012. Complexities of 5’splice site definition, implications in clinical analyses. RNA Biology 9, 911-923

Avendaño-Vázquez, S.E., Dhir A., Bembich, S., Buratti E., Proudfoot N., Baralle F.E. 2012. Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing and alternative polyA site selection. Genes & Development  26, 1679-1684

Becker K., Braune M.,  Benderska N., Buratti E., Baralle F., Villmann C., Stamm S., Eulenburg V., Becker C.-M. 2012. A retroelement modifies pre-mRNA splicing: The murine Glrbspa allele is a splicing signal polymorphism amplified by long interspersed nuclear element insertion. J Biol Chem 287, 31185-31194

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. 2012. Misregulation of human sortilin splicing leads to the generation of a non-functional progranulin receptor. 109, 21510-21515

Buratti E., Chivers M., Hwang G., and Vorechovsky I. 2011. DBASS3 and DBASS5: databases of aberrant 3' and 5' splice sites. Nucleic Acids Res 39, D86-91

Pinto S., Vlahoviceck K., Buratti E. 2011. PRO-MINE: A bioinformatics repository and analytical tool for TDP-43 mutations. Human Mutation 32, E1948-1958

Zampieri S., Buratti E., Dominissini S., Montalvo AL, Pittis MG, Bembi B., Dardis A. 2011. Splicing mutations in Glycogen Storage Disease Type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. European J Human Genetics 19, 422-431

Ayala Y.M., De Conti L., Vázquez S.E.A., Dhir A., Romano M., D’Ambrogio A., Tollervey J., Ule J., Baralle M.,  Buratti E., Baralle F.E. 2011. TDP-43 regulates its mRNA levels through a negative feedback loop. EMBO J 30, 277-288

Budini M., Baralle F.E., Buratti E. 2011. Regulation of Gene Expression by TDP-43 and FUS/TLS in Frontotemporal Lobar Degeneration. Current Alzheimer Res 8, 237-245

Godena V.K., Romano G., Romano M., Appocher C., Klima R., Buratti E., Baralle F.E., Feiguin F. 2011. TDP-43 regulates Drosophila Neuromuscular Junctions growth by modulating Futsch/MAP1B levels and synaptic microtubules organization. PLoS ONE 6, e17808

Skoko N., Baralle M., Tisminetzky S., Buratti E. 2011. InTRONs in biotech. Molecular Biotechnology 48: 290-297

Hirschfeld  M., Jaeger M., Buratti E., Stuani S., Grueneisen J., Gitsch G., Stickeler E. 2011. Alternative splicing of tumor-promoting Cyr61 is regulated by hTRA2-β1 and acidosis. Human Molecular Genetics 20: 2356-2365

Buratti E., Baralle F.E. 2011. TDP-43: New aspects of autoregulation mechanisms in RNA binding proteins and their connection with human disease. FEBS Journal 278: 3529

Baralle F.E., Buratti E. 2011. TDP-43: Overview of the series. FEBS Journal 278, 3530-3538

Zago P., Buratti E., Stuani C., Baralle F.E. 2011. Evolutionary connections between coding and splicing regulatory regions in the fibronectin EDA exon. J Mol Biol 411, 1-15

Budini E., Buratti E. 2011. TDP-43 autoregulation: implications for disease. J Mol Neuroscience 45, 473-479

Buratti E. 2011. TDP-43 and FUS in ALS/FTLD: will common pathways fit all? Neurology 77: 1588-1589

Haque A., Buratti E., Baralle F.E. 2010. Functional properties and evolutionary splicing constraints on a Composite Exonic Regulatory Element of Splicing (CERES) in CFTR exon 12. Nucleic Acids Res 38: 647-659

Dhir A., Buratti E. 2010. Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies. FEBS Journal 277: 841-855

Dhir A., Buratti E., van Santen M.A., Lührmann R., Baralle F.E. 2010. The intronic splicing code: multiple factors involved in ATM pseudoexon definition. EMBO J 29, 749-760

Sorarù G., Orsetti V., Buratti E., Baralle F.E., Cima V., Volpe M., D’Ascenzo C., Palmieri A., Koutsikos K., Pegoraro E., and Angelini C. 2010. TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis 11: 240-243

Buratti E., De Conti L., Stuani C., Romano M., Baralle M., Baralle F.E. 2010. Nuclear factor TDP-43 can affect selected miRNA levels. FEBS Journal 277, 2268-2281

Buratti E., Baralle F.E. 2010. Neurons don't appreciate FUSsing in the cytoplasm. EMBO Journal 29, 2769-2771

Borroni B., Archetti S., Del Bo R., Papetti A., Buratti E., Bonvicini C., Agosti C., Cosseddu M., Turla M., Di Lorenzo D., Comi G.P., Gennarelli M. and Padovani A. 2010. TARDBP mutations in Frontotemporal Lobar Degeneration: frequency, clinical features, and disease course. Rejuvination Research 13: 509-517

Buratti E., Baralle D. 2010. Novel roles of U1snRNP in alternative splicing regulation. RNA Biology, 7: 412-419

Buratti E., Baralle F.E. 2010. The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation. RNA Biology, 2010, 7: 420-429

Ash P.E.A., Zhang Y-j., Roberts C.M., Saldi T., Hutter H., Buratti E., Petrucelli L., Link C.D. 2010. Neurotoxic effects of TDP-43 overexpression in C. elegans. Human Molecular Genetics 19: 3206-3218

Dujardin G., Buratti E., Charlet-Berguerand, N., Martins de Araujod M., Mbopda A., Le Jossic-Corcos C., Pagani F., Ferec C., Corcos L. 2010. CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3. Nucleic Acids Res 38: 7273-7285

Valacca C., Bonomi S., Buratti E., Pedrotti S., Baralle F., Sette C., Ghigna C., Biamonti G. 2010. Sam68 regulates epithelial to mesenchymal  transition through alternative splicing-activated NMD of the SF2/ASF proto-oncogene. J Cell Biol 191: 87-99

Zago P., Baralle M., Ayala Y.M., Skoko N, Zacchigna S., Buratti E., Tisminetzky S. 2009. Improving human beta interferon production in mammalian cell lines by insertion of an intronic sequence within its naturally uninterrupted gene. Biotechnol Applied Biochem 52: 191-198

Zampieri S., Filocamo M., Buratti E., Stroppiano M., Vlahovicek K., Rosso N., Bignulin E., Regis R., Carnevale F., Bembi B., Dardis A. 2009. Molecular and  functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: Identification of 6 novel alleles. Neurogenetics 10: 49-58

Corrado L., Ratti A., Gellera C., Buratti E., Castellotti B., Carlomagno Y., Ticozzi N., Mazzini L., Testa L., Taroni F., Baralle F.E., Silani V., D'Alfonso S. 2009. High frequency of TARDBP gene mutations in Italian patients with Amyotrophic Lateral Sclerosis. Human Mutation 30: 688-694

Divina P., Kvitkovicova A., Buratti E., Vorechovsky I. 2009. Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping. European J Human Genetics, 2009, 17: 759-765

Nonaka T., Arai T., Buratti E., Baralle F.E., Akiyama H., Hasegawa M. 2009. Phosphorylated and ubiquitinated TDP-43 pathological inclusions in ALS and FTLD-U are recapitulated in SH-SY5Y cells. FEBS Letters 583: 394-400

Raponi M., Buratti E., Dassie E. , Upadhyaya M., Baralle D. 2009. Low U1snRNP dependence at the NF1 exon 29 donor splice site. FEBS J 276, 2060-2073

Zhang Y.-J., Xu Y.-F., Cook C., Gendron T., Roettges P., Link C.D., Lin W.-L., Tong J., Catanedes-Casey M., Ash P., Gass J., Rangachari V., Buratti E., Baralle F., Golde T., Dickson D.W., F. Petrucelli. 2009. Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity. Proc Nat Acad Sci USA 106: 7607-7612

D'Ambrogio A., Buratti E., Stuani C., Guarnaccia C., Romano M., Ayala Y.M., Baralle F.E. 2009. Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo. Nucleic Acids Res 37, 4116-4126

Baralle D., Lucassen A., Buratti E. 2009. Missed Threads - The impact of pre mRNA splicing defects in clinical practice. EMBO Reports 10: 810-816

Buratti E., Baralle F.E. 2009. The molecular links between TDP-43 dysfunction and neurodegeneration. Advances in Genetics 66:1-34

Borroni B., Bonvicini C., Alberici A., Buratti E., Agosti C., Archetti S., Papetti A., Stuani C., Di Luca M., Gennarelli M., Padovani A. 2009. Mutation within TARDBP leads to Frontotemporal Dementia without motor neuron disease. Human Mutation 30: E974-E983

Colombrita C., Zennaro E., Fallini C., Weber M., Sommacal A., Buratti E., Silani V., Ratti A. 2009. TDP-43 is recruited to stress granules in conditions of oxidative insult. J Neurochem 111:1051-1061

Buratti E., Baralle F.E. 2008. Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Frontiers in Bioscience 13,  867-878

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., Shaw C.E. 2008. Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Science 319: 1668-1672

Thompson, J.R., Buratti E., de Wispelaere, M., Tepfer, M. 2008. Structural and functional characterization of the 5’ region of subgenomic RNA5 of Cucumber mosaic virus. J Gen Virol 89: 1729-1738

Hasegawa M., Arai T., Nonaka T., Kametani F., Yoshida M., Hashizume Y., Beach T.G., Buratti E., Baralle F., Morita M., Nakano I., Oda T., Tsuchiya K., Akiyama H. Phosphorylated TDP-43 in frontotemporal lobar degeneration and ALS. Annals of Neurology 64: 60-70

Jablonski J.A., Buratti E., Stuani C., Caputi M. 2008. The secondary structure of the HIV-1 transcript modulates viral splicing and infectivity. J Virol 82: 8038-8050

Skoko N., Baralle M., Buratti E., Baralle F.E. 2008. The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors. FEBS Lett 582: 2231-2236

Inukai Y., Nonaka T., Arai T., Yoshida M., Hashizume, Y., Beach T.G., Buratti E., Baralle F.E., Akiyama H., Hisanaga S.I., Hasegawa M. 2008. Abnormal phosphorylation of Ser409/410 of TDP-43 in FTLD-U and ALS. FEBS Lett 582: 2899-2904

Ayala Y.M., Zago P., D'Ambrogio A., Xu Y-F., Petrucelli L., Buratti E., Baralle F.E. 2008. Structural determinants of the cellular localization and shuttling of TDP-43. J Cell Sci 121: 3778-3785

Raponi M., Buratti E., Llorian M., Stuani S., Smith C.W.J., Baralle D. 2008. Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1. FEBS Journal, 2008, 275: 6101-6108.

Buratti E., Stuani S., De Prato G., and Baralle F.E. 2007. SR protein mediated inhibition of CFTR exon 9 inclusion. Molecular characterization of the Intronic Splicing Silencer Nucleic Acids Res 35: 4359-4368

Buratti E., Chivers M., Kralovicova J., Romano M., Baralle M., , Krainer A.R., Vorechovsky I. 2007. Aberrant 5’ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res 35: 4250-4263

Buratti E., Dhir A., Lewandowska M.A., Baralle F.E. 2007. RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events. Nucleic Acids Res 35: 4369-4383

Zhang Y.-J., Xu Y.-F., Dickey C., Buratti E., Baralle F., Bailey R., Pickering-Brown S., Dickson D., Petrucelli, L. 2007. Progranulin mediates caspase-dependent cleavage of TDP-43. Journal of Neuroscience 27: 10530-10534

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