PhD in Biomedical Sciences and Biotechnology
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- 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. (2001) EMBO Journal 20: 1774-1784.
- 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.(2008) Science, 319: 1668-1672.
- 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. (2012) PNAS (USA), 109: 21510-21515.
- 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. (2013) Nature Structural and Molecular Biology, , 20: 1443-1449.
- Mohagheghi F., Prudencio M., Stuani C., Cook C, Jansen-West K., Dickson D.W., Petrucelli L., Buratti E. TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor. (2015) Human Molecular Genetics, 25: 534-545.
- 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. (2015) Nucleic Acids Research, 43: 8990-9005.
- 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. (2016) Acta Neuropathologica Communications, 4: 52.
- 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. (2017) Journal of Biological Chemistry, in press. *co-corresponding authors.
- 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. (2017) Nucleic Acids Research, in press.
- Goina E., Peruzzo P, Bembi B, Dardis A., and Buratti E. Glycogen reduction in myotubes of late-onset Pompe disease patients using antisense technology. (2017) Molecular Therapy, , in press.
