Research Groups

Marco Baralle

Biotechnology Development

Group Leader

Research Interests and Description
Group Members

Marco Baralle

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

E-mail: barallemicgeb.org
Office tel: +39-040-3757316
Lab tel: +39-040-3757316
Office fax: +39-040-226555

Education

University College London, London, England, BSc Biochemistry, 1992
University of London, London, England, PhD, 2000

Career History

Since 2013, Group Leader of Biotech Development, ICGEB, Trieste, Italy
2003-2013, Research Scientist, Biotechnology Development Group, ICGEB, Trieste, Italy.

Scientific Activity

Current research interest focuses on the development of novel biotherapeutics for TDP 43 proteinopathies , and development of moncolanal biogenerics. He also is continuing his basic research on mechanisms of pre-mRNA processing in health and diseases and the evolutionary constraints in protein evolution derived from exonic splicing regulatory signals.

Marco Baralle is also an Academic Editor at PeerJ 

Selected Publications

De Conti, L., Baralle, M., Buratti, E. 2013. Exon and intron definition in pre-mRNA splicing. Wiley Interdiscip Rev RNA 1, 49-60

Zubovic, L., Baralle, M., Baralle, F.E. 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 40, 6255-6269

De Conti, L., Skoko, N., Buratti, E., Baralle, M. 2012. Complexities of 5'splice site definition: Implications in clinical analyses. RNA Biol 9

Passoni M, De Conti L, Baralle M, Buratti E. UG repeats/TDP-43 interactions near 5' splice sites exert unpredictable effects on splicing modulation. J Mol Biol 2012; 415:46-60.

Passoni M, De Conti L, Baralle M, Buratti E. UG repeats/TDP-43 interactions near 5' splice sites exert unpredictable effects on splicing modulation. J Mol Biol 2012; 415:46-60.

Skoko N, Baralle M, Tisminetzky S, Buratti E. InTRONs in biotech. Mol Biotechnol 2011; 48:290-7.

Ayala YM, De Conti L, Avendano-Vazquez SE et al. TDP-43 regulates its mRNA levels through a negative feedback loop. EMBO J 2011; 30:277-88.

Cox JJ, Sheynin J, Shorer Z et al. Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations. Hum Mutat 2010; 31:E1670-86.

Buratti E, De Conti L, Stuani C et al. Nuclear factor TDP-43 can affect selected microRNA levels. FEBS J 2010; 277:2268-81.

Zago P, Baralle M, Ayala YM et al. Improving human interferon-beta production in mammalian cell lines by insertion of an intronic sequence within its naturally uninterrupted gene. Biotechnol Appl Biochem 2009; 52:191-8.

Skoko N, Baralle M, Buratti E, Baralle FE. The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors. FEBS Lett 2008; 582:2231-6.

Esperante SA, Rivolta CM, Miravalle L et al. 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; 68:828-35.

Baralle M, Pastor T, Bussani E, Pagani F. Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing. Am J Hum Genet 2008; 83:77-88.

Baralle M, Baralle FE. Genetics and molecular biology: variations in alternative spliced pre-mRNA-protein isoforms and their role in disease. Curr Opin Lipidol 2008; 19:429-30.

Buratti E, Chivers M, Kralovicova J et al. Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res 2007; 35:4250-63.

Baralle M, Baralle FE. Genetics and molecular biology: micro RNAs are welcome to the lipid field. Curr Opin Lipidol 2007; 18:375-7.

Dominissini S, Buratti E, Bembi B et al. Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays. Hum Mutat 2006; 27:119.

Buratti E, Baralle M, Baralle FE. Defective splicing, disease and therapy: searching for master checkpoints in exon definition. Nucleic Acids Res 2006; 34:3494-510.

Baralle M, Skoko N, Knezevich A et al. NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. FEBS Lett 2006; 580:4449-56.

Baralle M, Baralle FE. Genetics and molecular biology: single nucleotide polymorphism associations and their functional significance. Curr Opin Lipidol 2006; 17:360-2.

Baralle M, Baralle FE. Genetics and molecular biology. Curr Opin Lipidol 2005; 16:385-7.

Baralle D, Baralle M. Splicing in action: assessing disease causing sequence changes. J Med Genet 2005; 42:737-48.

Zhang L, Vincent GM, Baralle M et al. An intronic mutation causes long QT syndrome. J Am Coll Cardiol 2004; 44:1283-91.

Buratti E, Baralle M, De Conti L et al. hnRNP H binding at the 5' splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes. Nucleic Acids Res 2004; 32:4224-36.

Baralle M, Baralle FE. Vascular gene therapy: getting to know the players, avoiding the pitfalls. Curr Opin Lipidol 2004; 15:479-81.

Baralle M, Baralle D, De Conti L et al. Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay. J Med Genet 2003; 40:220-2.

Baralle M, Baralle FE. Genetics and molecular biology. Curr Opin Lipidol 2001; 12:663-5.

Baralle M, Baralle FE. Genetics and molecular biology. Curr Opin Lipidol 2000; 11:653-6.

Vergnes L, Baroukh N, Lehy T et al. Human apolipoprotein A-IV reduces gastric acid secretion and diminishes ulcer formation in transgenic mice. FEBS Lett 1999; 460:178-81.

Baralle M, Vergnes L, Muro AF et al. Regulation of the human apolipoprotein AIV gene expression in transgenic mice. FEBS Lett 1999; 445:45-52.

Baralle M, Baralle FE. Genetics and molecular biology. Curr Opin Lipidol 1999; 10:365-8.

 

BOOK CHAPTERS

Splicing mechanisms in the NF1 gene. Marco Baralle and Diana Baralle. Human Molecular Genetics. Meena Upadhyaya,David Cooper In press

From Bedside to bench: How to Analyse a Splicing Mutation. Baralle M, Baralle D. Alternative pre-mRNA splicing: Theory and Protocols. Stamm S., Smith C.W., Lurhmann R. (Eds.) pp. 3 (2012) Wiley-VCH, Weinheim

Protein splicing. Baralle M. and Buratti E. Encyclopedia of Genetics, 2nd edition (2012) Mitchell S. (Ed.)

Cod. Fisc. 90031700322 tl_files/trieste pics/5permille .png

AREA Science Park
Padriciano 99
34149 Trieste, ITALY
Tel: +39-040-37571
Fax: +39-040-226555
icgebicgeb.org
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