Publications by authors named "Marco Baralle"

40Publications

The splicing code.

Biosystems 2018 Feb 6;164:39-48. Epub 2017 Nov 6.

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

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http://dx.doi.org/10.1016/j.biosystems.2017.11.002DOI Listing
February 2018

New routes in frontotemporal dementia drug discovery.

Expert Opin Drug Discov 2017 07 2;12(7):659-671. Epub 2017 Jun 2.

a Biotechnology Development Group , International Centre for Genetic Engineering and Biotechnology , Trieste , Italy.

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http://dx.doi.org/10.1080/17460441.2017.1329294DOI Listing
July 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

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

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

Antimycobacterial activity of new N(1)-[1-[1-aryl-3-[4-(1H-imidazol-1-yl)phenyl]-3-oxo]propyl]-pyridine-2-carboxamidrazone derivatives.

Bioorg Med Chem Lett 2016 07 19;26(14):3287-3290. Epub 2016 May 19.

Department of Life and Enviromental Sciences, Via Porcell 4, University of Cagliari, 09124 Cagliari, Italy.

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http://dx.doi.org/10.1016/j.bmcl.2016.05.053DOI Listing
July 2016

Absence of TDP-43 is difficult to digest.

EMBO J 2016 Jan 23;35(2):115-7. Epub 2015 Dec 23.

ICGEB, Trieste, Italy.

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http://dx.doi.org/10.15252/embj.201593603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4718458PMC
January 2016

Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing.

PLoS One 2015 28;10(10):e0141735. Epub 2015 Oct 28.

Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0141735PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624989PMC
June 2016

Characterization of variegate porphyria mutations using a minigene approach.

JIMD Rep 2015 1;20:39-44. Epub 2015 Feb 1.

Centro de Investigaciones sobre Porfirinas y Porfirias, Hospital de Clínicas José de San Martín, CONICET, Buenos Aires, Argentina.

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http://dx.doi.org/10.1007/8904_2014_388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375119PMC
March 2015

Exonic splicing signals impose constraints upon the evolution of enzymatic activity.

Nucleic Acids Res 2014 May 1;42(9):5790-8. Epub 2014 Apr 1.

Molecular Pathology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB), Padriciano 99, 34149 Trieste, Italy

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http://dx.doi.org/10.1093/nar/gku240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027185PMC
May 2014

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

Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation.

Blood 2013 Nov 1;122(23):3825-31. Epub 2013 Oct 1.

Department of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands;

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http://dx.doi.org/10.1182/blood-2013-04-499657DOI Listing
November 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

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

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

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 2012 Jul 19;40(13):6255-69. Epub 2012 Mar 19.

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

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http://dx.doi.org/10.1093/nar/gks249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3401437PMC
July 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

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7090800PMC
July 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

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

Genetics and molecular biology: variations in alternative spliced pre-mRNA-protein isoforms and their role in disease.

Curr Opin Lipidol 2008 Aug;19(4):429-30

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

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https://insights.ovid.com/crossref?an=00041433-200808000-000
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http://dx.doi.org/10.1097/MOL.0b013e328306f0b8DOI Listing
August 2008

Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing.

Am J Hum Genet 2008 Jul;83(1):77-88

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

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http://dx.doi.org/10.1016/j.ajhg.2008.06.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2443835PMC
July 2008

Improving human interferon-beta production in mammalian cell lines by insertion of an intronic sequence within its naturally uninterrupted gene.

Biotechnol Appl Biochem 2009 Mar;52(Pt 3):191-8

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

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http://dx.doi.org/10.1042/BA20080046DOI Listing
March 2009

The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors.

FEBS Lett 2008 Jun 27;582(15):2231-6. Epub 2008 May 27.

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

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http://dx.doi.org/10.1016/j.febslet.2008.05.018DOI Listing
June 2008

Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands.

Clin Endocrinol (Oxf) 2008 May 2;68(5):828-35. Epub 2007 Nov 2.

Laboratorio de Biología Molecular, Cátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Buenos Aires, Argentina.

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http://dx.doi.org/10.1111/j.1365-2265.2007.03111.xDOI Listing
May 2008

NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region.

FEBS Lett 2006 Aug 14;580(18):4449-56. Epub 2006 Jul 14.

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

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http://dx.doi.org/10.1016/j.febslet.2006.07.018DOI Listing
August 2006

Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

Nucleic Acids Res 2006 19;34(12):3494-510. Epub 2006 Jul 19.

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

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http://dx.doi.org/10.1093/nar/gkl498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1524908PMC
August 2006

Genetics and molecular biology.

Curr Opin Lipidol 2005 Jun;16(3):385-7

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http://dx.doi.org/10.1097/01.mol.0000169358.43266.a3DOI Listing
June 2005