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Items: 1 to 50 of 183

1.

Molecular pathology of Frontotemporal Lobar Degenerations.

Borroni B, Alberici A, Buratti E.

Neuropathol Appl Neurobiol. 2018 Dec 21. doi: 10.1111/nan.12534. [Epub ahead of print]

PMID:
30575981
2.

Dysregulation of TDP-43 intracellular localization and early onset ALS are associated with a TARDBP S375G variant.

Newell K, Paron F, Mompean M, Murrell J, Salis E, Stuani C, Pattee G, Romano M, Laurents D, Ghetti B, Buratti E.

Brain Pathol. 2018 Nov 21. doi: 10.1111/bpa.12680. [Epub ahead of print]

PMID:
30461104
3.

Antinuclear antibodies in Frontotemporal Dementia: the tip's of autoimmunity iceberg?

Cavazzana I, Alberici A, Bonomi E, Ottaviani R, Kumar R, Archetti S, Manes M, Cosseddu M, Buratti E, Padovani A, Tincani A, Franceschini F, Borroni B.

J Neuroimmunol. 2018 Dec 15;325:61-63. doi: 10.1016/j.jneuroim.2018.10.006. Epub 2018 Oct 19.

PMID:
30391902
4.

Evidence of a low-temperature dynamical transition in concentrated microgels.

Zanatta M, Tavagnacco L, Buratti E, Bertoldo M, Natali F, Chiessi E, Orecchini A, Zaccarelli E.

Sci Adv. 2018 Sep 28;4(9):eaat5895. doi: 10.1126/sciadv.aat5895. eCollection 2018 Sep.

5.
6.

Interpenetrating Polymer Network Microgels in Water: Effect of Composition on the Structural Properties and Electrosteric Interactions.

Micali N, Bertoldo M, Buratti E, Nigro V, Angelini R, Villari V.

Chemphyschem. 2018 Nov 5;19(21):2894-2901. doi: 10.1002/cphc.201800707. Epub 2018 Sep 4.

PMID:
30074305
7.

Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

Fratta P, Sivakumar P, Humphrey J, Lo K, Ricketts T, Oliveira H, Brito-Armas JM, Kalmar B, Ule A, Yu Y, Birsa N, Bodo C, Collins T, Conicella AE, Mejia Maza A, Marrero-Gagliardi A, Stewart M, Mianne J, Corrochano S, Emmett W, Codner G, Groves M, Fukumura R, Gondo Y, Lythgoe M, Pauws E, Peskett E, Stanier P, Teboul L, Hallegger M, Calvo A, Chiò A, Isaacs AM, Fawzi NL, Wang E, Housman DE, Baralle F, Greensmith L, Buratti E, Plagnol V, Fisher EM, Acevedo-Arozena A.

EMBO J. 2018 Jun 1;37(11). pii: e98684. doi: 10.15252/embj.201798684. Epub 2018 May 15.

8.

TDP-43 post-translational modifications in health and disease.

Buratti E.

Expert Opin Ther Targets. 2018 Mar;22(3):279-293. doi: 10.1080/14728222.2018.1439923. Epub 2018 Feb 20. Review.

PMID:
29431050
9.

Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders.

Dardis A, Buratti E.

Genes (Basel). 2018 Feb 6;9(2). pii: E73. doi: 10.3390/genes9020073. Review.

10.

Publisher Correction: Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target.

Borroni B, Stanic J, Verpelli C, Mellone M, Bonomi E, Alberici A, Bernasconi P, Culotta L, Zianni E, Archetti S, Manes M, Gazzina S, Ghidoni R, Benussi L, Stuani C, Di Luca M, Sala C, Buratti E, Padovani A, Gardoni F.

Sci Rep. 2018 Jan 5;8(1):272. doi: 10.1038/s41598-017-18750-8.

11.

Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

Cortese A, Laurà M, Casali C, Nishino I, Hayashi YK, Magri S, Taroni F, Stuani C, Saveri P, Moggio M, Ripolone M, Prelle A, Pisciotta C, Sagnelli A, Pichiecchio A, Reilly MM, Buratti E, Pareyson D.

Eur J Neurol. 2018 Jan;25(1):154-163. doi: 10.1111/ene.13478. Epub 2017 Dec 2.

PMID:
29029362
12.

Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

Grodecká L, Buratti E, Freiberger T.

Int J Mol Sci. 2017 Jul 31;18(8). pii: E1668. doi: 10.3390/ijms18081668. Review.

13.

Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target.

Borroni B, Stanic J, Verpelli C, Mellone M, Bonomi E, Alberici A, Bernasconi P, Culotta L, Zianni E, Archetti S, Manes M, Gazzina S, Ghidoni R, Benussi L, Stuani C, Di Luca M, Sala C, Buratti E, Padovani A, Gardoni F.

Sci Rep. 2017 Jul 27;7(1):6723. doi: 10.1038/s41598-017-06117-y. Erratum in: Sci Rep. 2018 Jan 5;8(1):272.

14.

Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.

Goina E, Peruzzo P, Bembi B, Dardis A, Buratti E.

Mol Ther. 2017 Sep 6;25(9):2117-2128. doi: 10.1016/j.ymthe.2017.05.019. Epub 2017 Jun 16.

15.

Autophagy and Its Impact on Neurodegenerative Diseases: New Roles for TDP-43 and C9orf72.

Budini M, Buratti E, Morselli E, Criollo A.

Front Mol Neurosci. 2017 May 30;10:170. doi: 10.3389/fnmol.2017.00170. eCollection 2017. Review.

16.

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, Buratti E.

Nucleic Acids Res. 2017 Jul 27;45(13):8026-8045. doi: 10.1093/nar/gkx477.

17.

Point mutations in the N-terminal domain of transactive response DNA-binding protein 43 kDa (TDP-43) compromise its stability, dimerization, and functions.

Mompeán M, Romano V, Pantoja-Uceda D, Stuani C, Baralle FE, Buratti E, Laurents DV.

J Biol Chem. 2017 Jul 14;292(28):11992-12006. doi: 10.1074/jbc.M117.775965. Epub 2017 May 31.

18.

Microglial and Neuronal TDP-43 Pathology in Anti-IgLON5-Related Tauopathy.

Cagnin A, Mariotto S, Fiorini M, Gaule M, Bonetto N, Tagliapietra M, Buratti E, Zanusso G, Ferrari S, Monaco S.

J Alzheimers Dis. 2017;59(1):13-20. doi: 10.3233/JAD-170189.

PMID:
28550263
19.

Human NDE1 splicing and mammalian brain development.

Mosca S, Raponi M, Meneghello A, Buratti E, Woods CG, Baralle D.

Sci Rep. 2017 Mar 7;7:43504. doi: 10.1038/srep43504.

20.

RNA splicing in human disease and in the clinic.

Baralle D, Buratti E.

Clin Sci (Lond). 2017 Mar 1;131(5):355-368. doi: 10.1042/CS20160211. Review.

PMID:
28202748
21.

Keratin14 mRNA expression in human pneumocytes during quiescence, repair and disease.

Confalonieri M, Buratti E, Grassi G, Bussani R, Chilosi M, Farra R, Abrami M, Stuani C, Salton F, Ficial M, Confalonieri P, Zandonà L, Romano M.

PLoS One. 2017 Feb 15;12(2):e0172130. doi: 10.1371/journal.pone.0172130. eCollection 2017.

22.

Succession of splicing regulatory elements determines cryptic 5΄ss functionality.

Brillen AL, Schöneweis K, Walotka L, Hartmann L, Müller L, Ptok J, Kaisers W, Poschmann G, Stühler K, Buratti E, Theiss S, Schaal H.

Nucleic Acids Res. 2017 Apr 20;45(7):4202-4216. doi: 10.1093/nar/gkw1317.

23.

Novel splice-switching oligonucleotide promotes BRCA1 aberrant splicing and susceptibility to PARP inhibitor action.

Smith LD, Leme de Calais F, Raponi M, Mellone M, Buratti E, Blaydes JP, Baralle D.

Int J Cancer. 2017 Apr 1;140(7):1564-1570. doi: 10.1002/ijc.30574. Epub 2017 Jan 30.

24.

An Amyloid-Like Pathological Conformation of TDP-43 Is Stabilized by Hypercooperative Hydrogen Bonds.

Mompeán M, Baralle M, Buratti E, Laurents DV.

Front Mol Neurosci. 2016 Nov 17;9:125. eCollection 2016.

25.

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.

Grodecká L, Kováčová T, Kramárek M, Seneca S, Stouffs K, De Laet C, Majer F, Kršjaková T, Hujová P, Hrnčířová K, Souček P, Lissens W, Buratti E, Freiberger T.

J Mol Med (Berl). 2017 Mar;95(3):299-309. doi: 10.1007/s00109-016-1484-2. Epub 2016 Nov 12.

PMID:
27837218
26.

Parkinson's disease-related gene variants influence pre-mRNA splicing processes.

Gaweda-Walerych K, Mohagheghi F, Zekanowski C, Buratti E.

Neurobiol Aging. 2016 Nov;47:127-138. doi: 10.1016/j.neurobiolaging.2016.07.014. Epub 2016 Jul 28.

PMID:
27574110
27.

TDP-43 aggregation mirrors TDP-43 knockdown, affecting the expression levels of a common set of proteins.

Prpar Mihevc S, Baralle M, Buratti E, Rogelj B.

Sci Rep. 2016 Sep 26;6:33996. doi: 10.1038/srep33996.

28.

Neurodegeneration and RNA-binding proteins.

De Conti L, Baralle M, Buratti E.

Wiley Interdiscip Rev RNA. 2017 Mar;8(2). doi: 10.1002/wrna.1394. Epub 2016 Sep 22. Review.

PMID:
27659427
29.

The minor spliceosome could be the major key for FUS/TLS mutants in ALS.

Buratti E.

EMBO J. 2016 Jul 15;35(14):1486-7. doi: 10.15252/embj.201694763. Epub 2016 Jun 10. No abstract available.

30.

Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C.

Dardis A, Zampieri S, Canterini S, Newell KL, Stuani C, Murrell JR, Ghetti B, Fiorenza MT, Bembi B, Buratti E.

Acta Neuropathol Commun. 2016 May 18;4(1):52. doi: 10.1186/s40478-016-0325-4.

31.

Electrostatic Repulsion Governs TDP-43 C-terminal Domain Aggregation.

Mompeán M, Chakrabartty A, Buratti E, Laurents DV.

PLoS Biol. 2016 Apr 20;14(4):e1002447. doi: 10.1371/journal.pbio.1002447. eCollection 2016 Apr. No abstract available.

32.

Physiological functions and pathobiology of TDP-43 and FUS/TLS proteins.

Ratti A, Buratti E.

J Neurochem. 2016 Aug;138 Suppl 1:95-111. doi: 10.1111/jnc.13625. Epub 2016 Jun 15. Review.

33.

TBPH/TDP-43 modulates translation of Drosophila futsch mRNA through an UG-rich sequence within its 5'UTR.

Romano M, Feiguin F, Buratti E.

Brain Res. 2016 Sep 15;1647:50-56. doi: 10.1016/j.brainres.2016.02.022. Epub 2016 Feb 18.

34.

Structural and biochemical characterization of an RNA/DNA binding motif in the N-terminal domain of RecQ4 helicases.

Marino F, Mojumdar A, Zucchelli C, Bhardwaj A, Buratti E, Vindigni A, Musco G, Onesti S.

Sci Rep. 2016 Feb 18;6:21501. doi: 10.1038/srep21501.

35.

The TDP-43 N-terminal domain structure at high resolution.

Mompeán M, Romano V, Pantoja-Uceda D, Stuani C, Baralle FE, Buratti E, Laurents DV.

FEBS J. 2016 Apr;283(7):1242-60. doi: 10.1111/febs.13651. Epub 2016 Feb 11.

36.

TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor.

Mohagheghi F, Prudencio M, Stuani C, Cook C, Jansen-West K, Dickson DW, Petrucelli L, Buratti E.

Hum Mol Genet. 2016 Feb 1;25(3):534-45. doi: 10.1093/hmg/ddv491. Epub 2015 Nov 27.

37.

An age-related reduction of brain TBPH/TDP-43 levels precedes the onset of locomotion defects in a Drosophila ALS model.

Cragnaz L, Klima R, De Conti L, Romano G, Feiguin F, Buratti E, Baralle M, Baralle FE.

Neuroscience. 2015 Dec 17;311:415-21. doi: 10.1016/j.neuroscience.2015.10.037. Epub 2015 Oct 27.

38.

From transcriptomic to protein level changes in TDP-43 and FUS loss-of-function cell models.

Colombrita C, Onesto E, Buratti E, de la Grange P, Gumina V, Baralle FE, Silani V, Ratti A.

Biochim Biophys Acta. 2015 Dec;1849(12):1398-410. doi: 10.1016/j.bbagrm.2015.10.015. Epub 2015 Oct 26.

PMID:
26514432
39.

Functional Significance of TDP-43 Mutations in Disease.

Buratti E.

Adv Genet. 2015;91:1-53. doi: 10.1016/bs.adgen.2015.07.001. Epub 2015 Aug 7. Review.

PMID:
26410029
40.

Structural Evidence of Amyloid Fibril Formation in the Putative Aggregation Domain of TDP-43.

Mompeán M, Hervás R, Xu Y, Tran TH, Guarnaccia C, Buratti E, Baralle F, Tong L, Carrión-Vázquez M, McDermott AE, Laurents DV.

J Phys Chem Lett. 2015 Jul 2;6(13):2608-15. doi: 10.1021/acs.jpclett.5b00918. Epub 2015 Jun 22.

41.

TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathways.

De Conti L, Akinyi MV, Mendoza-Maldonado R, Romano M, Baralle M, Buratti E.

Nucleic Acids Res. 2015 Oct 15;43(18):8990-9005. doi: 10.1093/nar/gkv814. Epub 2015 Aug 10.

42.

The structural integrity of TDP-43 N-terminus is required for efficient aggregate entrapment and consequent loss of protein function.

Romano V, Quadri Z, Baralle FE, Buratti E.

Prion. 2015;9(1):1-9. doi: 10.1080/19336896.2015.1011885.

43.

TDP-43 loss of cellular function through aggregation requires additional structural determinants beyond its C-terminal Q/N prion-like domain.

Budini M, Romano V, Quadri Z, Buratti E, Baralle FE.

Hum Mol Genet. 2015 Jan 1;24(1):9-20. doi: 10.1093/hmg/ddu415. Epub 2014 Aug 13.

44.

Chronological requirements of TDP-43 function in synaptic organization and locomotive control.

Romano G, Klima R, Buratti E, Verstreken P, Baralle FE, Feiguin F.

Neurobiol Dis. 2014 Nov;71:95-109. doi: 10.1016/j.nbd.2014.07.007. Epub 2014 Aug 1.

45.

Optimal antisense target reducing INS intron 1 retention is adjacent to a parallel G quadruplex.

Kralovicova J, Lages A, Patel A, Dhir A, Buratti E, Searle M, Vorechovsky I.

Nucleic Acids Res. 2014 Jul;42(12):8161-73. doi: 10.1093/nar/gku507. Epub 2014 Jun 17.

46.

The effects of peripheral occipital nerve stimulation for the treatment of patients suffering from chronic migraine: a single center experience.

Notaro P, Buratti E, Meroni A, Montagna MC, Rubino FG, Voltolini A.

Pain Physician. 2014 May-Jun;17(3):E369-74.

47.

BRCA1 exon 11 a model of long exon splicing regulation.

Raponi M, Smith LD, Silipo M, Stuani C, Buratti E, Baralle D.

RNA Biol. 2014;11(4):351-9. doi: 10.4161/rna.28458. Epub 2014 Mar 18.

48.

Targeting TDP-43 in neurodegenerative diseases.

Budini M, Baralle FE, Buratti E.

Expert Opin Ther Targets. 2014 Jun;18(6):617-32. doi: 10.1517/14728222.2014.896905. Epub 2014 Mar 20. Review.

PMID:
24649927
49.

Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools.

Grodecká L, Lockerová P, Ravčuková B, Buratti E, Baralle FE, Dušek L, Freiberger T.

PLoS One. 2014 Feb 21;9(2):e89570. doi: 10.1371/journal.pone.0089570. eCollection 2014.

50.

Evolutionarily conserved heterogeneous nuclear ribonucleoprotein (hnRNP) A/B proteins functionally interact with human and Drosophila TAR DNA-binding protein 43 (TDP-43).

Romano M, Buratti E, Romano G, Klima R, Del Bel Belluz L, Stuani C, Baralle F, Feiguin F.

J Biol Chem. 2014 Mar 7;289(10):7121-30. doi: 10.1074/jbc.M114.548859. Epub 2014 Feb 3.

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