Marina Colombi
Marina Colombi
affiliation: Università di Brescia
research area(s): Genetics And Genomics, Molecular Biology
Course: Molecular Genetics, Biotechnologies and Experimental Medicine
University/Istitution: Università di Brescia
1979 Degree in Biology (option Genetics), University of Pavia, Italy
1981 University of Pavia, Italy, Fellow
1982 Pavia Italy, CNR Fellow
1985 University of Helsinki, Finland, EMBO Fellow
1986 University of Helsinki, Finland, AIRC Fellow
1986 Researcher, University of Brescia, Italy
1992 Associate Professor of Biology, University of Brescia, Italy
2003 Full Professor of Biology, University of Brescia, Italy
2010 Full Professor of Medical Genetics, University of Brescia, Italy
Coordinator of Medical Genetics residency, University of Brescia
Member of the PhD Program in Molecular Genetics
In 1981 six-month stage at the Curie Institute, Orsay, France, working on circulating plasminogen activators in solid tumours affected patient in collaboration with Dr. Berta Fiszer-Szafarz
From 1984 to 1986 two-year stage at the Department of Virology of the University of Helsinki, Finland working on fibronectin alternative splicing in tumor cells in collaboration with Prof. Antti Vaheri
Author of about 70 full papers in peer-reviewed ISI journals, of 2 books and of 7 book chapters
Member of the: Italian (SIGU) and European Society of Human Genetics (ESHG)
Molecular bases of Inherited Connective Tissue Disorders with a prevalent cutaneous and cardiovascular involvement: dystrophic epidermolysis bullosa, Ehlers-Danlos syndromes, brittle cornea syndrome, arterial tortuosity syndrome, Loeys-Dietz syndrome, Marfan syndrome, pseudoxanthoma elasticum, distal arthrogryposis DA2B.
Extracellular matrix assembly and signalling in cells derived from patients affected with Inherited Connective Tissue Disorders.
Effect of human fibronectin synthetic peptide on tumour cells behaviour in vitro and in vivo.
Zoppi N, Ritelli M, Salvi A, Colombi M, Barlati S. The FN13 peptide inhibits human tumor cells invasion through the modulation of alphavbeta3 integrins organization and the inactivation of ILK pathway. Biochim Biophys Acta, Mol Cell Res 2007 1773:747-763
Drera B, Tadini G, Barlati S, Colombi M. Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype. Clin Genet 2008 73:290-293
Viglio S, Zoppi N, Sangalli A, Gallanti A, Barlati S, Mottes M, Colombi M, Valli M. Rescue of migratory defects of Ehlers-Danlos fibroblasts in vitro by type V collagen but not insulin-like binding protein-1. J Invest Dermatol 2008 128:1915-1919
Zoppi N, Barlati S, Colombi M. FAK-independent alphavbeta3 integrin-paxillin-EGFR complexes rescue from anoikis matrix-defective fibroblasts 2008 Biochim Biophys Acta, Mol Cell Res 1783:1177
1188 Drera D, Floriddia G, Forzano F, Barlati S, Zambruno G, Colombi M., Castiglia D. Branch point and donor-splice mutations in COL7A1 mutations in mild recessive dystrophic epidermolysis. 2009 Br J Dermatol 161:464-467
Ritelli M, Drera B, Vicchio M, Giovanni P, Biban P, Pilati M, Prioli MA, Barlati S, Colombi M. Arterial tortuosity syndrome in two Italian paediatric patients. 2009 Orphanet J Rare Dis
4:20.4 Drera B, Ritelli M, Zoppi N, Wischmeijer A, Fattori R, Calzavara-Pinton P, Barlati S, Colombi M. Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. 2009 Orphanet J Rare Dis 4:24-9
Castori M, Valiante M, Ritelli M, Preziosi N, Colombi M, Paradisi M, Grammatico P. Palmoplantar keratoderma, pseudoaihnum and universal atrichia: a novel patient and review of the palmoplantar keratoderma-congenital alopecia association. 2010 Am J Med Genet, 152A:2043-7
Pezzini A, Drera B, Del Zotto E, Ritelli M, Carletti M, Tomelleri G, Bovi P, Giossi A, Volonghi I, Costa P, Magoni M, Padovani A, Barlati S, Colombi M. Mutations in TGFBR2 gene cause spontaneous cervical artery dissection. 2011 J Neurol Neurosurg Psych, Jan 26 [Epub ahead of print]
Ritelli M, Chiarelli N, Zoppi N, Benini A, Borsani B, Barlati S, Colombi M. Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio. 2011 Int J Dev Biol Mar 31 [Epub ahead of print]
Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM. Mutations in PRDM5 in brittle cornea syndrome identify a novel pathway regulating extracellular matrix development and maintenance. 2011 Am J Hum Genet 88:767-77
Project Title:
Patients affected with connective tissue disorders mainly involving skin, arteries, skeleton and joints are investigated at molecular level in order to confirm the clinical diagnosis. Several collagen genes (COL5A1, COL5A2, COL3A1, COL1A1, COL1A2, COL7A1), fibrillin 1 (FBN1), transforming beta growth factor 1 and 2 receptors (TGFBR1, 2), facilitative glucose transporter 10 (SLC2A10) are investigated by direct DNA sequencing in the different pathologies, i.e., Ehlers-Danlos syndromes, dystrophic epidermolysis bullosa, Marfan syndrome, Loeys-Dietz syndrome arterial tortuosity syndrome, respectively. In patients affected with the hypermobility type of Ehlers-Danlos syndrome without a known causal gene, exome sequencing will lead the identification of the molecular basis of the disorder.

Project Title:
FN13 peptide induces the assembly of a fibronectin extracellular matrix in in vitro cultured tumor cells and inhibits cell migration. This effect was observed either when FN13 was added to the culture media or when it was stably expressed in human hepatoma, neuroblastoma and ovary carcinoma cell lines. Tumor cells expressing FN13 peptide will be transferred in nude mice, either subcutaneously or by injection in the blood stream, in order to verify the effect of the peptide on tumor growth and metastasis in this in vivo model.