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RNA structure and splicing regulation.

Baralle FE, Singh RN, Stamm S.

Biochim Biophys Acta Gene Regul Mech. 2019 Nov - Dec;1862(11-12):194448. doi: 10.1016/j.bbagrm.2019.194448. Epub 2019 Nov 12. No abstract available.


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.


RhoGAPp190: A potential player in tbph-mediated neurodegeneration in Drosophila.

Langellotti S, Romano G, Feiguin F, Baralle FE, Romano M.

PLoS One. 2018 Apr 13;13(4):e0195845. doi: 10.1371/journal.pone.0195845. eCollection 2018.


The splicing code.

Baralle M, Baralle FE.

Biosystems. 2018 Feb;164:39-48. doi: 10.1016/j.biosystems.2017.11.002. Epub 2017 Nov 6. Review.


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.


Alternative splicing as a regulator of development and tissue identity.

Baralle FE, Giudice J.

Nat Rev Mol Cell Biol. 2017 Jul;18(7):437-451. doi: 10.1038/nrm.2017.27. Epub 2017 May 10. Review.


A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.

Esposito MV, Nunziato M, Starnone F, Telese A, Calabrese A, D'Aiuto G, Pucci P, D'Aiuto M, Baralle F, D'Argenio V, Salvatore F.

Int J Mol Sci. 2016 Dec 21;17(12). pii: E2145. doi: 10.3390/ijms17122145.


A novel Drosophila model of TDP-43 proteinopathies: N-terminal sequences combined with the Q/N domain induce protein functional loss and locomotion defects.

Langellotti S, Romano V, Romano G, Klima R, Feiguin F, Cragnaz L, Romano M, Baralle FE.

Dis Model Mech. 2016 Jun 1;9(6):659-69. doi: 10.1242/dmm.023382. Epub 2016 Apr 21.


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.


Absence of TDP-43 is difficult to digest.

Skoko N, Baralle M, Baralle FE.

EMBO J. 2016 Jan 18;35(2):115-7. doi: 10.15252/embj.201593603. Epub 2015 Dec 23. No abstract available.


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.


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.


Exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways.

Suleiman SH, Koko ME, Nasir WH, Elfateh O, Elgizouli UK, Abdallah MO, Alfarouk KO, Hussain A, Faisal S, Ibrahim FM, Romano M, Sultan A, Banks L, Newport M, Baralle F, Elhassan AM, Mohamed HS, Ibrahim ME.

Front Genet. 2015 Sep 15;6:288. doi: 10.3389/fgene.2015.00288. eCollection 2015.


Glial TDP-43 regulates axon wrapping, GluRIIA clustering and fly motility by autonomous and non-autonomous mechanisms.

Romano G, Appocher C, Scorzeto M, Klima R, Baralle FE, Megighian A, Feiguin F.

Hum Mol Genet. 2015 Nov 1;24(21):6134-45. doi: 10.1093/hmg/ddv330. Epub 2015 Aug 13.


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.


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.


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.


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.


Aggregate formation prevents dTDP-43 neurotoxicity in the Drosophila melanogaster eye.

Cragnaz L, Klima R, Skoko N, Budini M, Feiguin F, Baralle FE.

Neurobiol Dis. 2014 Nov;71:74-80. doi: 10.1016/j.nbd.2014.07.009. Epub 2014 Jul 31.


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.


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.


A novel anti-aldolase C antibody specifically interacts with residues 85-102 of the protein.

Langellotti S, Romano M, Guarnaccia C, Granata V, Orrù S, Zagari A, Baralle FE, Salvatore F.

MAbs. 2014 May-Jun;6(3):708-17. doi: 10.4161/mabs.28191. Epub 2014 Feb 13.


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.


"Structural characterization of the minimal segment of TDP-43 competent for aggregation".

Mompeán M, Buratti E, Guarnaccia C, Brito RM, Chakrabartty A, Baralle FE, Laurents DV.

Arch Biochem Biophys. 2014 Mar 1;545:53-62. doi: 10.1016/ Epub 2014 Jan 15.


Predominance of spliceosomal complex formation over polyadenylation site selection in TDP-43 autoregulation.

Bembich S, Herzog JS, De Conti L, Stuani C, Avendaño-Vázquez SE, Buratti E, Baralle M, Baralle FE.

Nucleic Acids Res. 2014 Mar;42(5):3362-71. doi: 10.1093/nar/gkt1343. Epub 2013 Dec 24.


The role of TDP-43 in the pathogenesis of ALS and FTLD.

Baralle M, Buratti E, Baralle FE.

Biochem Soc Trans. 2013 Dec;41(6):1536-40. doi: 10.1042/BST20130186. Review.


Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43.

Lukavsky PJ, Daujotyte D, Tollervey JR, Ule J, Stuani C, Buratti E, Baralle FE, Damberger FF, Allain FH.

Nat Struct Mol Biol. 2013 Dec;20(12):1443-9. doi: 10.1038/nsmb.2698. Epub 2013 Nov 17.


Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.

Dardis A, Zanin I, Zampieri S, Stuani C, Pianta A, Romanello M, Baralle FE, Bembi B, Buratti E.

Nucleic Acids Res. 2014 Jan;42(2):1291-302. doi: 10.1093/nar/gkt987. Epub 2013 Oct 22.


RNA and splicing regulation in neurodegeneration.

Baralle FE, Buratti E.

Mol Cell Neurosci. 2013 Sep;56:404-5. doi: 10.1016/j.mcn.2013.09.001. No abstract available.


HnRNP A1 controls a splicing regulatory circuit promoting mesenchymal-to-epithelial transition.

Bonomi S, di Matteo A, Buratti E, Cabianca DS, Baralle FE, Ghigna C, Biamonti G.

Nucleic Acids Res. 2013 Oct;41(18):8665-79. doi: 10.1093/nar/gkt579. Epub 2013 Jul 17.


Characterizing TDP-43 interaction with its RNA targets.

Bhardwaj A, Myers MP, Buratti E, Baralle FE.

Nucleic Acids Res. 2013 May;41(9):5062-74. doi: 10.1093/nar/gkt189. Epub 2013 Mar 21.


TDP-43 high throughput screening analyses in neurodegeneration: advantages and pitfalls.

Buratti E, Romano M, Baralle FE.

Mol Cell Neurosci. 2013 Sep;56:465-74. doi: 10.1016/j.mcn.2013.03.001. Epub 2013 Mar 14. Review.


From single splicing events to thousands: the ambiguous step forward in splicing research.

Buratti E, Baralle M, Baralle FE.

Brief Funct Genomics. 2013 Jan;12(1):3-12. doi: 10.1093/bfgp/els048. Epub 2012 Nov 18. Review.


Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing, and alternative polyA site selection.

Avendaño-Vázquez SE, Dhir A, Bembich S, Buratti E, Proudfoot N, Baralle FE.

Genes Dev. 2012 Aug 1;26(15):1679-84. doi: 10.1101/gad.194829.112.


A retroelement modifies pre-mRNA splicing: the murine Glrb(spa) allele is a splicing signal polymorphism amplified by long interspersed nuclear element insertion.

Becker K, Braune M, Benderska N, Buratti E, Baralle F, Villmann C, Stamm S, Eulenburg V, Becker CM.

J Biol Chem. 2012 Sep 7;287(37):31185-94. doi: 10.1074/jbc.M112.375691. Epub 2012 Jul 10.


TDP-43: gumming up neurons through protein-protein and protein-RNA interactions.

Buratti E, Baralle FE.

Trends Biochem Sci. 2012 Jun;37(6):237-47. doi: 10.1016/j.tibs.2012.03.003. Epub 2012 Apr 24. Review.


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.

Colombrita C, Onesto E, Megiorni F, Pizzuti A, Baralle FE, Buratti E, Silani V, Ratti A.

J Biol Chem. 2012 May 4;287(19):15635-47. doi: 10.1074/jbc.M111.333450. Epub 2012 Mar 16.


Role of selected mutations in the Q/N rich region of TDP-43 in EGFP-12xQ/N-induced aggregate formation.

Budini M, Romano V, Avendaño-Vázquez SE, Bembich S, Buratti E, Baralle FE.

Brain Res. 2012 Jun 26;1462:139-50. doi: 10.1016/j.brainres.2012.02.031. Epub 2012 Feb 22.


Cellular model of TAR DNA-binding protein 43 (TDP-43) aggregation based on its C-terminal Gln/Asn-rich region.

Budini M, Buratti E, Stuani C, Guarnaccia C, Romano V, De Conti L, Baralle FE.

J Biol Chem. 2012 Mar 2;287(10):7512-25. doi: 10.1074/jbc.M111.288720. Epub 2012 Jan 10.


Stam2 expression pattern during embryo development.

Curlin M, Kapuralin K, Muro AF, Baralle FE, Chowdhury K, Gajović S.

Gene Expr Patterns. 2012 Jan-Feb;12(1-2):68-76. doi: 10.1016/j.gep.2011.11.005. Epub 2011 Nov 28.


TDP-43: Overview of the series.

Baralle FE, Buratti E.

FEBS J. 2011 Oct;278(19):3529. doi: 10.1111/j.1742-4658.2011.08278.x. Epub 2011 Sep 6. No abstract available.


TDP-43: new aspects of autoregulation mechanisms in RNA binding proteins and their connection with human disease.

Buratti E, Baralle FE.

FEBS J. 2011 Oct;278(19):3530-8. doi: 10.1111/j.1742-4658.2011.08257.x. Epub 2011 Aug 24. Review.


Evolutionary connections between coding and splicing regulatory regions in the fibronectin EDA exon.

Zago P, Buratti E, Stuani C, Baralle FE.

J Mol Biol. 2011 Aug 5;411(1):1-15. doi: 10.1016/j.jmb.2011.05.031. Epub 2011 Jun 1.


TDP-43 regulates Drosophila neuromuscular junctions growth by modulating Futsch/MAP1B levels and synaptic microtubules organization.

Godena VK, Romano G, Romano M, Appocher C, Klima R, Buratti E, Baralle FE, Feiguin F.

PLoS One. 2011 Mar 11;6(3):e17808. doi: 10.1371/journal.pone.0017808.


Regulation of gene expression by TDP-43 and FUS/TLS in frontotemporal lobar degeneration.

Budini M, Baralle FE, Buratti E.

Curr Alzheimer Res. 2011 May;8(3):237-45. Review.


TDP-43 regulates its mRNA levels through a negative feedback loop.

Ayala YM, De Conti L, Avendaño-Vázquez SE, Dhir A, Romano M, D'Ambrogio A, Tollervey J, Ule J, Baralle M, Buratti E, Baralle FE.

EMBO J. 2011 Jan 19;30(2):277-88. doi: 10.1038/emboj.2010.310. Epub 2010 Dec 3.


Sam68 regulates EMT through alternative splicing-activated nonsense-mediated mRNA decay of the SF2/ASF proto-oncogene.

Valacca C, Bonomi S, Buratti E, Pedrotti S, Baralle FE, Sette C, Ghigna C, Biamonti G.

J Cell Biol. 2010 Oct 4;191(1):87-99. doi: 10.1083/jcb.201001073. Epub 2010 Sep 27.


Neurons don't appreciate FUSsing in the cytoplasm.

Buratti E, Baralle FE.

EMBO J. 2010 Aug 18;29(16):2769-71. doi: 10.1038/emboj.2010.163. No abstract available.


The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation.

Buratti E, Baralle FE.

RNA Biol. 2010 Jul-Aug;7(4):420-9. Epub 2010 Jul 1. Review.


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