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You are here: Home / Staff
Research Interests

In the recent years Dr. Ursini’s group has studied NEMO, a protein with a central role in the NF-kB activation working as a platform at a converging point of different signaling pathways that lead to NF-kB regulation. NEMO mutations are associated with Incontinentia Pigmenti, a rare X-linked dominant disease. Because of the pleiotropic role of NEMO, IP has a highly heterogeneous clinical presentation ranging from the simple cutaneous rush to a severe metal handicap. Dr. Ursini and her group have described many mutations in the NEMO/IKKgamma gene whose functional characterization has prompted them to identify specific molecular defects in single transduction signal converging on NEMO, such as inflammatory triggers (TNF alfa, IL1 LPS ecc) that overall affects the NF-kappaB pathway causing the disease. In the effort to identify the players of the NF-kappaB defect in the CNS, Dr. Ursini has sought to identify molecular adaptors interacting with NEMO in the CNS, such as NESCA, a novel NGF mediator in NF-kB activation.

Short CV

Education:
January 1980: Degree in Biological Science "summa cum laude" at the University of Naples.


Present position:
1988- Researcher of the National Research Council of Italy,
2001-Present First-Researcher of the National Research Council of Italy


Professional experience:
1977-1981: Pre-doctoral associate at the International Institute of Genetics and Biophysics, Naples.
1981-1982: Assistant at the Université de Lyon I (France) in the laboratory of Prof. Victor Nigon.
1982-1988: Post-doctoral fellow at the Department of Molecular and Cellular Pathology and Biology, 2th Medical School, Naples.
1985: Guest scientist in the Laboratory of Biochemistry, National Institutes of Health, Bethesda,MD, USA.
1987: Guest scientist in the Laboratory of Biochemistry and Metabolism, National Institutes of Health, Bethesda, MD, USA.
December 1988: Staff member of the International Institute of Genetics and Biophysics, CNR, Naples.


Scientific society
European Thyroid Association
Associazione Genetica Italiana
Società Italiana di Biofisica e Biologia Molecolare.
Cell Stress Society International
American Society of Human Genetics


Educational activity
National
Dr. Ursini has been adviser of 12 Degree theses in Biological Science or Biotechnology, 5 PhD theses at the University Federico II, the Second University of Naples and the University of Basilicata, Potenza.

Participation to PhD committees:
2004-2007 Member of the committee for the Microbiological, clinical and experimental science PhD program (Dottorato in Scienze Microbiologiche, Sperimentali Cliniche)
2004-2007 Member of the committee for the Advanced Biology PhD program (Dottorato in Biologia Avanzata)
International
1998 Member of committees that judge PhD at the University Claude Bernard, Lyon I, France


TEACHING DUTIES
National
2004-09 Università della Basilicata, Potenza, Italy
Human Genetics course

International
1981 University Claude Bernard Lyon I, France
Molecular Genetics Practical Course

 

Selected Publications
  • Fusco F, Paciolla M, Napolitano F, Pescatore A, D'Addario I, Bal E, Lioi MB, Smahi A, Miano MG, Ursini MV. Genomic architecture at the Incontinentia Pigmenti  locus favours de novo pathological alleles through different mechanisms. Hum Mol  Genet. 2011 Dec 7.

  • Fusco F, Paciolla M, Chen E, Li X, Genesio R, Conti A, Jones J, Poeta L, Lioi  MB, Ursini MV, Miano MG. Genetic and molecular analysis of a new unbalanced X;18  rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region. Hum Reprod. 2011 Nov;26(11):3186-96.

  • Paciolla M, Boni R, Fusco F, Pescatore A, Poeta L, Ursini MV, Lioi MB, Miano MG. Nuclear factor-kappa-B-inhibitor alpha (NFKBIA) is a developmental marker of  NF-Œ∫B/p65 activation during in vitro oocyte maturation and early embryogenesis. Hum Reprod. 2011 May;26(5):1191-201

  • Gautheron J, Pescatore A, Fusco F, Esposito E, Yamaoka S, Agou F, Ursini MV, Courtois G. Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology. Hum Mol Genet. 2010 Aug 15;19(16):3138-49.

  • Fusco F, D'Urso M, Miano MG, Ursini MV. The LCR at the IKBKG locus is prone to recombine. Am J Hum Genet. 2010 Apr 9;86(4):650-2;

  • Monfregola J, Napolitano G, D'Urso M, Lappalainen P, Ursini MV. Functional characterization of Wiskott-Aldrich syndrome protein and scar homolog (WASH), a bi-modular nucleation-promoting factor able to interact with biogenesis of lysosome-related organelle subunit 2 (BLOS2) and gamma-tubulin. J Biol Chem. 2010 May 28;285(22):16951-7.

  • Fusco F, Paciolla M, Pescatore A, Lioi MB, Ayuso C, Faravelli F, Gentile M, Zollino M, D'Urso M, Miano MG, Ursini MV. Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with  Incontinentia Pigmenti. Hum Mutat. 2009 Sep;30(9):1284-91.

  • Fusco F, Pescatore A, Bal E, Ghoul A, Paciolla M, Lioi MB, D'Urso M, Rabia SH, Bodemer C, Bonnefont JP, Munnich A, Miano MG, Smahi A, Ursini MV. Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. Hum Mutat. 2008 May;29(5):595-604.

  • Sebban-Benin H*, Pescatore A*, Fusco F, Pascuale V, Gautheron J, Yamaoka S, Moncla A, Ursini MV#, Courtois G#. Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti. Hum Mol Genet. 2007 Dec 1;16(23):2805-15. *Join first author #Join senior author. Erratum in: Hum Mol Genet. 2008 Feb 14;17(4):639.

  • Monfregola J, Cevenini A, Terracciano A, van Vlies N, Arbucci S, Wanders RJ, D'Urso M, Vaz FM, Ursini MV. Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting. J Cell Physiol. 2005 Sep;204(3):839-47

  • Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israël A, Courtois G, D'Urso M, Ursini MV. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation. Hum Mol Genet. 2004 Aug 15;13(16):1763-73.



 

Collaborations
  • Patrick A. Arrigo’, Stress Oxydant, CNRS-UMR 5534, Universite Claude Bernard Lyon-I, Villeurbanne, France.
  • Claudio Pignata, Dipartimento di Pediatria, Università Federico II, Napoli
  • Gilles Courtois, INSERM U532, Hôpital Saint-Louis, Paris, France
  • Brigida Lioi, Università della Basilicata, Via N. Sauro 85-85100 Potenza, Italy
  • Antonio Leonardi, Dipartimento di Biologia e Patologia Cellulare e Molecolare, Università Federico II, Napoli
  • Carmen Ayuso, Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
  • David Schlessinger, National Institutes of Health/National Institute on Aging, Baltimore, MD USA.
  • Frédéric M. Vaz, Academic Medical Center, University of Amsterdam, Asterdam,NE
  • Pekka Lappalainen, Institute of Biotechnology, University of Helsinki, Finland


 


Keywords: NF-kappa B, Incontinentia Pigmenti, rare genetic disease


Matilde Valeria Ursini

CNR Researcher (Primo Ricercatore)

+39 081 6132262
matildevaleria.ursini@igb.cnr.it
Homepage

Staff Members:

Ilaria Acatullo
Undergraduate Student (Tesista)

Carmela Casale
Undergraduate Student (Tesista)

Nadia Coratella
Undergraduate Student (Tesista)

Ahmed Elsharkawy
PhD Student (Dottorando)

Dario Fergola
External Collaborator

Alessandra Pescatore
Researcher (Ricercatore)

Maria Grazia Rosano
Undergraduate Student (Tesista)

Ezia Spinosa
Undergraduate Student (Tesista)

Valeria Valente
Undergraduate Student (Tesista)