Emanuele Buratti

Emanuele Buratti

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Emanuele Buratti

Publications by authors named "Emanuele Buratti"

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Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology.

Hum Mutat 2019 11 29;40(11):2121-2130. Epub 2019 Jul 29.

Molecular Pathology, International Institute for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://dx.doi.org/10.1002/humu.23867DOI Listing
November 2019

Editorial: Role of RNA Modification in Disease.

Front Genet 2019 23;10:920. Epub 2019 Oct 23.

Kimmel Center for Biology and Medicine at the Skirball Institute, Department of Pathology, New York University School of Medicine, New York, NY, United States.

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http://dx.doi.org/10.3389/fgene.2019.00920DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819427PMC
October 2019

Neurodegeneration: The emerging non-coding connections.

Noncoding RNA Res 2019 Sep 1;4(3):79. Epub 2019 Oct 1.

Molecular Pathology, International Institute for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://dx.doi.org/10.1016/j.ncrna.2019.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6926175PMC
September 2019

Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.

J Pathol 2019 Aug 23;248(4):409-420. Epub 2019 Apr 23.

Splicing and Genetic Susceptibility to Cancer, Instituto de Biología y Genética Molecular (CSIC-UVa), Valladolid, Spain.

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http://dx.doi.org/10.1002/path.5268DOI Listing
August 2019

Toward a Glutamate Hypothesis of Frontotemporal Dementia.

Front Neurosci 2019 29;13:304. Epub 2019 Mar 29.

Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

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https://www.frontiersin.org/article/10.3389/fnins.2019.00304
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http://dx.doi.org/10.3389/fnins.2019.00304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449454PMC
March 2019

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

J Alzheimers Dis 2017 ;59(1):13-20

Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.

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http://dx.doi.org/10.3233/JAD-170189DOI Listing
April 2018

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

Authors:
Emanuele Buratti

Expert Opin Ther Targets 2018 03 20;22(3):279-293. Epub 2018 Feb 20.

a Department of Molecular Pathology , International Centre for Genetic Engineering and Biotechnology (ICGEB) , Trieste , Italy.

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http://dx.doi.org/10.1080/14728222.2018.1439923DOI Listing
March 2018

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

Genes (Basel) 2018 Feb 6;9(2). Epub 2018 Feb 6.

International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy, I.C.G.E.B., Padriciano 99, 34149 Trieste, Italy.

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http://dx.doi.org/10.3390/genes9020073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852569PMC
February 2018

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

Mol Ther 2017 09 16;25(9):2117-2128. Epub 2017 Jun 16.

International Centre for Genetic Engineering and Biotechnology, Area Science Park, Padriciano, 34149 Trieste, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2017.05.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589062PMC
September 2017

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

J Biol Chem 2017 07 31;292(28):11992-12006. Epub 2017 May 31.

From the Instituto de Química Física "Rocasolano," Consejo Superior de Investigaciones Científicas, Serrano 119, E-28006 Madrid, Spain and

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http://dx.doi.org/10.1074/jbc.M117.775965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512090PMC
July 2017

Major hnRNP proteins act as general TDP-43 functional modifiers both in Drosophila and human neuronal cells.

Nucleic Acids Res 2017 Jul;45(13):8026-8045

International Centre for Genetic Engineering and Biotechnology (ICGEB), 34149 Trieste, Italy.

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http://dx.doi.org/10.1093/nar/gkx477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570092PMC
July 2017

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

Int J Mol Sci 2017 Jul 31;18(8). Epub 2017 Jul 31.

Centre for Cardiovascular Surgery and Transplantation, Brno 65691, Czech Republic.

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http://dx.doi.org/10.3390/ijms18081668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578058PMC
July 2017

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

Front Mol Neurosci 2017 30;10:170. Epub 2017 May 30.

Dentistry Faculty, Institute in Dentistry Sciences, University of ChileSantiago, Chile.

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http://dx.doi.org/10.3389/fnmol.2017.00170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5447761PMC
May 2017

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

Int J Cancer 2017 04 30;140(7):1564-1570. Epub 2017 Jan 30.

Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.

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http://dx.doi.org/10.1002/ijc.30574DOI Listing
April 2017

Neurodegeneration and RNA-binding proteins.

Wiley Interdiscip Rev RNA 2017 03 22;8(2). Epub 2016 Sep 22.

Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.

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http://dx.doi.org/10.1002/wrna.1394DOI Listing
March 2017

RNA splicing in human disease and in the clinic.

Clin Sci (Lond) 2017 Mar;131(5):355-368

International Centre for Genetic Engineering and Biotechnology (ICGEB), 34149 Trieste, Italy

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http://dx.doi.org/10.1042/CS20160211DOI Listing
March 2017

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

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

Instituto de Química Física "Rocasolano", Consejo Superior de Investigaciones Científicas (CSIC) Madrid, Spain.

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http://dx.doi.org/10.3389/fnmol.2016.00125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5112254PMC
November 2016

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

Brain Res 2016 09 18;1647:50-56. Epub 2016 Feb 18.

International Centre for Genetic Engineering and Biotechnology (ICGEB), 34012 Trieste, Italy.

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http://dx.doi.org/10.1016/j.brainres.2016.02.022DOI Listing
September 2016

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

Sci Rep 2016 Sep 26;6:33996. Epub 2016 Sep 26.

Department of Biotechnology, Jožef Stefan Institute, Jamova 39, SI-1000 Ljubljana, Slovenia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5036055PMC
http://dx.doi.org/10.1038/srep33996DOI Listing
September 2016

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

J Neurochem 2016 08 15;138 Suppl 1:95-111. Epub 2016 Jun 15.

International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.

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http://dx.doi.org/10.1111/jnc.13625DOI Listing
August 2016

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

Authors:
Emanuele Buratti

EMBO J 2016 07 10;35(14):1486-7. Epub 2016 Jun 10.

ICGEB, Trieste, Italy.

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http://dx.doi.org/10.15252/embj.201694763DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4946143PMC
July 2016

Functional Significance of TDP-43 Mutations in Disease.

Authors:
Emanuele Buratti

Adv Genet 2015 7;91:1-53. Epub 2015 Aug 7.

International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy. Electronic address:

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http://dx.doi.org/10.1016/bs.adgen.2015.07.001DOI Listing
May 2016

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

FEBS J 2016 Apr 11;283(7):1242-60. Epub 2016 Feb 11.

Instituto de Química Física Rocasolano, Madrid, Spain.

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http://dx.doi.org/10.1111/febs.13651DOI Listing
April 2016

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

PLoS Biol 2016 Apr 20;14(4):e1002447. Epub 2016 Apr 20.

Instituto de Química Física "Rocasolano" CSIC, Madrid, Spain.

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http://dx.doi.org/10.1371/journal.pbio.1002447DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4838238PMC
April 2016

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

Biochim Biophys Acta 2015 Dec 26;1849(12):1398-410. Epub 2015 Oct 26.

Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center - Università degli Studi di Milano, Milan 20122, Italy; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbagrm.2015.10.015DOI Listing
December 2015

BRCA1 exon 11 a model of long exon splicing regulation.

RNA Biol 2014 18;11(4):351-9. Epub 2014 Mar 18.

University of Southampton; Southampton, United Kingdom.

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http://dx.doi.org/10.4161/rna.28458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4075520PMC
January 2015

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

Hum Mol Genet 2015 Jan 13;24(1):9-20. Epub 2014 Aug 13.

International Centre for Genetic Engineering and Biotechnology (ICGEB), 34012 Trieste, Italy

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http://dx.doi.org/10.1093/hmg/ddu415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4262490PMC
January 2015

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

Neurobiol Dis 2014 Nov 1;71:95-109. Epub 2014 Aug 1.

International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34149 Trieste, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09699961140020
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http://dx.doi.org/10.1016/j.nbd.2014.07.007DOI Listing
November 2014

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

PLoS One 2014 21;9(2):e89570. Epub 2014 Feb 21.

Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic ; Central European Institute of Technology, Masaryk University, Brno, Czech Republic ; Institute of Clinical Immunology and Allergology, St. Anne's University Hospital and Masaryk University, Brno, Czech Republic.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0089570PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931810PMC
October 2014

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

Nucleic Acids Res 2014 Jul 17;42(12):8161-73. Epub 2014 Jun 17.

University of Southampton, Faculty of Medicine, Southampton SO16 6YD, UK

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http://dx.doi.org/10.1093/nar/gku507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4081105PMC
July 2014

Role of pseudoexons and pseudointrons in human cancer.

Int J Cell Biol 2013 24;2013:810572. Epub 2013 Sep 24.

Department of Life Sciences, University of Trieste, Via A. Valerio 28, 34127 Trieste, Italy.

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http://dx.doi.org/10.1155/2013/810572DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3800588PMC
June 2014

Targeting TDP-43 in neurodegenerative diseases.

Expert Opin Ther Targets 2014 Jun 20;18(6):617-32. Epub 2014 Mar 20.

International Centre for Genetic Engineering and Biotechnology (ICGEB) , Padriciano 99, 34149 Trieste , Italy +39 040 3757316 ; +39 040 655522 ;

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http://dx.doi.org/10.1517/14728222.2014.896905DOI Listing
June 2014

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

Arch Biochem Biophys 2014 Mar 15;545:53-62. Epub 2014 Jan 15.

Instituto de Química Física "Rocasolano" CSIC, Serrano 119, E-28006 Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.abb.2014.01.007DOI Listing
March 2014

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

Nucleic Acids Res 2014 Jan 22;42(2):1291-302. Epub 2013 Oct 22.

Regional Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy and International Centre for Genetic Engineering and Biotechnology (ICGEB), Area Science Park, Trieste, Italy.

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http://dx.doi.org/10.1093/nar/gkt987DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902950PMC
January 2014

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

Nat Struct Mol Biol 2013 Dec 17;20(12):1443-9. Epub 2013 Nov 17.

1] Central European Institute of Technology, Masaryk University, Brno, Czech Republic. [2] Institute of Molecular Biology and Biophysics, Eidgenössische Technische Hochschule Hönggerberg, Zürich, Switzerland.

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http://dx.doi.org/10.1038/nsmb.2698DOI Listing
December 2013

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

Biochem Soc Trans 2013 Dec;41(6):1536-40

*International Centre for Genetic Engineering and Biotechnology (ICGEB), Padriciano 99, 34149 Trieste, Italy.

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http://www.biochemsoctrans.org/cgi/doi/10.1042/BST20130186
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http://dx.doi.org/10.1042/BST20130186DOI Listing
December 2013

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

Nucleic Acids Res 2013 Oct 17;41(18):8665-79. Epub 2013 Jul 17.

Istituto di Genetica Molecolare, Consiglio Nazionale delle Ricerche (IGM-CNR), 27100 Pavia, Italy, International Centre for Genetic Engineering and Biotechnology, 34012 Trieste, Italy and Division of Regenerative Medicine, Stem Cells, and Gene Therapy, Dulbecco Telethon Institute at San Raffaele Scientific Institute, 20132 Milan, Italy.

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http://dx.doi.org/10.1093/nar/gkt579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3794575PMC
October 2013

Targeting RNA binding proteins involved in neurodegeneration.

J Biomol Screen 2013 Oct 16;18(9):967-83. Epub 2013 Aug 16.

1Department of Life Sciences, University of Trieste, Trieste, Italy.

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http://dx.doi.org/10.1177/1087057113497256DOI Listing
October 2013

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

Mol Cell Neurosci 2013 Sep 14;56:465-74. Epub 2013 Mar 14.

International Centre for Genetic Engineering and Biotechnology (ICGEB) 34012 Trieste, Italy.

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http://dx.doi.org/10.1016/j.mcn.2013.03.001DOI Listing
September 2013

RNA and splicing regulation in neurodegeneration.

Mol Cell Neurosci 2013 Sep;56:404-5

International Centre for Genetic Engineering and Biotechnology (ICGEB) 34149 Trieste, Italy; Padriciano 99, 34149 Trieste, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.mcn.2013.09.001DOI Listing
September 2013

Exon and intron definition in pre-mRNA splicing.

Wiley Interdiscip Rev RNA 2013 Jan-Feb;4(1):49-60. Epub 2012 Oct 8.

International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://dx.doi.org/10.1002/wrna.1140DOI Listing
June 2013

Characterizing TDP-43 interaction with its RNA targets.

Nucleic Acids Res 2013 May 21;41(9):5062-74. Epub 2013 Mar 21.

International Centre for Genetic Engineering and Biotechnology (ICGEB), 34012 Trieste, Italy.

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http://dx.doi.org/10.1093/nar/gkt189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3643599PMC
May 2013

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

Brief Funct Genomics 2013 Jan 18;12(1):3-12. Epub 2012 Nov 18.

International Centre of Genetic Engineering and Biotechnology (ICGEB), Padriciano 99, 34149 Trieste, Italy.

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http://dx.doi.org/10.1093/bfgp/els048DOI Listing
January 2013

Drosophila Answers to TDP-43 Proteinopathies.

J Amino Acids 2012 18;2012:356081. Epub 2012 Apr 18.

Department of Life Sciences, University of Trieste, Via A. Valerio 28, 34127 Trieste, Italy.

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http://dx.doi.org/10.1155/2012/356081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3337594PMC
August 2012

Exon skipping mutations in neurofibromatosis.

Methods Mol Biol 2012 ;867:65-76

Department of Molecular Pathology, ICGEB, Trieste, Italy.

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http://dx.doi.org/10.1007/978-1-61779-767-5_5DOI Listing
July 2012

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

Brain Res 2012 Jun 22;1462:139-50. Epub 2012 Feb 22.

International Centre for Genetic Engineering and Biotechnology (ICGEB) 34012 Trieste, Italy.

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http://dx.doi.org/10.1016/j.brainres.2012.02.031DOI Listing
June 2012

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

Trends Biochem Sci 2012 Jun 24;37(6):237-47. Epub 2012 Apr 24.

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

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http://dx.doi.org/10.1016/j.tibs.2012.03.003DOI Listing
June 2012

Complexities of 5'splice site definition: implications in clinical analyses.

RNA Biol 2012 Jun 23;9(6):911-23. Epub 2012 May 23.

International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.

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http://dx.doi.org/10.4161/rna.20386DOI Listing
June 2012

UG repeats/TDP-43 interactions near 5' splice sites exert unpredictable effects on splicing modulation.

J Mol Biol 2012 Jan 9;415(1):46-60. Epub 2011 Nov 9.

International Centre for Genetic Engineering and Biotechnology, 34012 Trieste, Italy.

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http://dx.doi.org/10.1016/j.jmb.2011.11.003DOI Listing
January 2012

TDP-43 autoregulation: implications for disease.

J Mol Neurosci 2011 Nov 18;45(3):473-9. Epub 2011 Jun 18.

International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012, Trieste, Italy.

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http://search.proquest.com/openview/d9bf72af9cfc398c7d5d4044
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http://dx.doi.org/10.1007/s12031-011-9573-8DOI Listing
November 2011

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

FEBS J 2011 Oct 24;278(19):3530-8. Epub 2011 Aug 24.

International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.

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http://doi.wiley.com/10.1111/j.1742-4658.2011.08257.x
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http://dx.doi.org/10.1111/j.1742-4658.2011.08257.xDOI Listing
October 2011

TDP-43: Overview of the series.

FEBS J 2011 Oct 6;278(19):3529. Epub 2011 Sep 6.

International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.

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http://dx.doi.org/10.1111/j.1742-4658.2011.08278.xDOI Listing
October 2011

TDP-43 and FUS in ALS/FTLD: will common pathways fit all?

Authors:
Emanuele Buratti

Neurology 2011 Oct 28;77(17):1588-9. Epub 2011 Sep 28.

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http://dx.doi.org/10.1212/WNL.0b013e31823433baDOI Listing
October 2011

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

J Mol Biol 2011 Aug 1;411(1):1-15. Epub 2011 Jun 1.

International Center for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://dx.doi.org/10.1016/j.jmb.2011.05.031DOI Listing
August 2011

InTRONs in biotech.

Mol Biotechnol 2011 Jul;48(3):290-7

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

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http://dx.doi.org/10.1007/s12033-011-9390-xDOI Listing
July 2011

Expression of tumor-promoting Cyr61 is regulated by hTRA2-β1 and acidosis.

Hum Mol Genet 2011 Jun 29;20(12):2356-65. Epub 2011 Mar 29.

Gynaecological Hospital, Freiburg University Medical Center, Hugstetterstr. 55, D-79106 Freiburg, Germany.

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http://dx.doi.org/10.1093/hmg/ddr128DOI Listing
June 2011

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

Eur J Hum Genet 2011 Apr 22;19(4):422-31. Epub 2010 Dec 22.

Regional Coordinator Centre for Rare disease, University hospital 'Santa Maria della Misericordia', Udine, Italy.

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http://dx.doi.org/10.1038/ejhg.2010.188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060314PMC
April 2011

Novel roles of U1 snRNP in alternative splicing regulation.

RNA Biol 2010 Jul-Aug;7(4):412-9. Epub 2010 Jul 1.

International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://dx.doi.org/10.4161/rna.7.4.12153DOI Listing
January 2011

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

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

International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://dx.doi.org/10.4161/rna.7.4.12205DOI Listing
January 2011

DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites.

Nucleic Acids Res 2011 Jan 6;39(Database issue):D86-91. Epub 2010 Oct 6.

International Centre for Genetic Engineering and Biotechnology, 34149 Trieste, Italy.

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http://dx.doi.org/10.1093/nar/gkq887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3013770PMC
January 2011

PRO-MINE: A bioinformatics repository and analytical tool for TARDBP mutations.

Hum Mutat 2011 Jan;32(1):E1948-58

Department of Molecular Biology, University of Zagreb, Croatia.

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http://dx.doi.org/10.1002/humu.21393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3038324PMC
January 2011

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

EMBO J 2011 Jan 3;30(2):277-88. Epub 2010 Dec 3.

Department of Molecular Pathology, International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://dx.doi.org/10.1038/emboj.2010.310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025456PMC
January 2011

CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3.

Nucleic Acids Res 2010 Nov 14;38(20):7273-85. Epub 2010 Jul 14.

Inserm U613-ECLA Team, Faculty of Medicine, 22 Avenue Camille Desmoulins, 29238 Brest Cedex 3, France.

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http://dx.doi.org/10.1093/nar/gkq573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978352PMC
November 2010

Neurotoxic effects of TDP-43 overexpression in C. elegans.

Hum Mol Genet 2010 Aug 8;19(16):3206-18. Epub 2010 Jun 8.

Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, FL 32224, USA.

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http://dx.doi.org/10.1093/hmg/ddq230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908471PMC
August 2010

Neurons don't appreciate FUSsing in the cytoplasm.

EMBO J 2010 Aug;29(16):2769-71

Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://dx.doi.org/10.1038/emboj.2010.163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2924646PMC
August 2010

Nuclear factor TDP-43 can affect selected microRNA levels.

FEBS J 2010 May;277(10):2268-81

International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.

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http://dx.doi.org/10.1111/j.1742-4658.2010.07643.xDOI Listing
May 2010

Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies.

FEBS J 2010 Feb 15;277(4):841-55. Epub 2010 Jan 15.

International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.

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http://dx.doi.org/10.1111/j.1742-4658.2009.07520.xDOI Listing
February 2010

The intronic splicing code: multiple factors involved in ATM pseudoexon definition.

EMBO J 2010 Feb 21;29(4):749-60. Epub 2010 Jan 21.

Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://dx.doi.org/10.1038/emboj.2009.397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2829169PMC
February 2010

Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12.

Nucleic Acids Res 2010 Jan 12;38(2):647-59. Epub 2009 Nov 12.

International Centre for Genetic Engineering and Biotechnology, 34149 Trieste, Italy.

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gkp1040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2811005PMC
January 2010

TDP-43 is recruited to stress granules in conditions of oxidative insult.

J Neurochem 2009 Nov 16;111(4):1051-61. Epub 2009 Sep 16.

Department of Neurology and Laboratory of Neuroscience, Dino Ferrari Center, Università degli Studi di Milano - IRCCS Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1111/j.1471-4159.2009.06383.xDOI Listing
November 2009

The molecular links between TDP-43 dysfunction and neurodegeneration.

Adv Genet 2009 ;66:1-34

International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.

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http://dx.doi.org/10.1016/S0065-2660(09)66001-6DOI Listing
October 2009

Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

EMBO Rep 2009 Aug;10(8):810-6

Human Genetics Division, University of Southampton School of Medicine, Southampton, UK.

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http://dx.doi.org/10.1038/embor.2009.170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2726684PMC
August 2009

Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo.

Nucleic Acids Res 2009 Jul 8;37(12):4116-26. Epub 2009 May 8.

International Centre for Genetic Engineering and Biotechnology (ICGEB), 34012 Trieste, Italy.

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http://dx.doi.org/10.1093/nar/gkp342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2709582PMC
July 2009

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.

Eur J Hum Genet 2009 Jun 14;17(6):759-65. Epub 2009 Jan 14.

Division of Human Genetics, University of Southampton School of Medicine, Southampton, UK.

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http://dx.doi.org/10.1038/ejhg.2008.257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947103PMC
June 2009

Low U1 snRNP dependence at the NF1 exon 29 donor splice site.

FEBS J 2009 Apr;276(7):2060-73

Department of Pathology, University of Cambridge, UK.

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http://dx.doi.org/10.1111/j.1742-4658.2009.06941.xDOI Listing
April 2009

Phosphorylated and ubiquitinated TDP-43 pathological inclusions in ALS and FTLD-U are recapitulated in SH-SY5Y cells.

FEBS Lett 2009 Jan 25;583(2):394-400. Epub 2008 Dec 25.

Department of Molecular Neurobiology, Tokyo Institute of Psychiatry, Tokyo Metropolitan Organization for Medical Research, 2-1-8 Kamikitazawa, Setagaya-ku 156-8585, Tokyo, Japan.

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http://doi.wiley.com/10.1016/j.febslet.2008.12.031
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http://dx.doi.org/10.1016/j.febslet.2008.12.031DOI Listing
January 2009

Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.

FEBS J 2008 Dec 1;275(24):6101-8. Epub 2008 Nov 1.

Human Genetics Division, University of Southampton, UK.

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http://dx.doi.org/10.1111/j.1742-4658.2008.06734.xDOI Listing
December 2008

Structural determinants of the cellular localization and shuttling of TDP-43.

J Cell Sci 2008 Nov 28;121(Pt 22):3778-85. Epub 2008 Oct 28.

International Centre for Genetic Engineering and Biotechnology (ICGEB), 34012 Trieste, Italy.

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http://dx.doi.org/10.1242/jcs.038950DOI Listing
November 2008