Ivonne Pasquali-Ronchetti, PhD


 Ivonne Pasquali-ronchetti

General Pathology
University Modena and Reggio Emilia, Modena, Italy

Ivonne Ronchetti, PhD, is full professor of General Pathology at the University of Modena and Reggio Emilia. She is the Rector's delegate for Student's Affairs and for orientation activities to newcomers to university. She has been working on the oxidative metabolism of cultured cells and isolated mitochondria, and, more recently, her interest is mainly devoted to the structure, macromolecolar organization and chemical composition of soft connective tissues, with particular attention to elastin and to elastic fibers both in physiological and in pathological conditions.

Ivonne Ronchetti received the 2010 PXE International Research Award for long time dedication to pseudoxanthoma elasticum (PXE).

Areas of Interest

Genetics of PXEABCC6 ProteinPXE and the MetabolismClinical ManifestationsEpidemiology of PXE



Boraldi F, Garcia-Fernandez M, Paolinelli-Devincenzi C, Annovi G, Schurgers L, Vermeer C, Cianciulli P, Ronchetti I, Quaglino D. Ectopic calcification in β-thalassemia patients is associated with increased oxidative stress and lower MGP carboxylation. Biochim Biophys Acta. 2013 Dec;1832(12):2077-84. PMID: 23899606

Ronchetti I, Boraldi F, Annovi G, Cianciulli P, Quaglino D. Fibroblast involvement in soft connective tissue calcification. Front Genet. 2013 Mar 4;4:22. Free article in PubMed. PMID: 23467434

Quaglino D, Boraldi F, Annovi G, Ronchetti I. The multifaceted complexity of genetic diseases: A lesson from pseudoxanthoma elasticum. Advances in the Study of Genetic Disorders. November 2011. ISBN: 978-953-307-305-7. Article here

O.M. Vanakker, L. Martin, L.J. Schurgers, D. Quaglino, C. Vermeer, I. Pasquali-Ronchetti, P.J. Coucke, A. De Paepe. Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to GGCX mutations in the PXE-like syndrome. Lab Invest. 2010 Jun;90(6):895-905. Free article at Journal Website. PMID: 20368697

Pisciotta L, Tarugi P, Borrini C, Belloccio A, Fresa R, Guerra D, Quaglino D, Ronchetti I, Calandra S, Bertolini S. Pseudoxanthoma elasticum and familial hypercholesterolemia: A deleterious combination of cardiovascular risk factors. Atherosclerosis. 2010 May;210(1):173-6. PMID: 20018285

L.M. Costrop, O.M. Vanakker, L. Van Laer, O. Le Saux, L. Martin, N. Chassaing, D. Guerra, I. Pasquali-Ronchetti, P.J. Coucke, A. De Paepe. Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region. J Hum Genet. 2010 Feb;55(2):112-7. PMID: 20075945

Guerra D, Roggiani J, Panico F, De Santis G, Gheduzzi D, Quaglino D, Pasquali-Ronchetti I. ABCC6 mutations in Italian PXE patients; an update describing 22 novel mutations. Connect Tissue Res. 2009;50:80-1.

Boraldi F, Annovi G, Guerra D, Paolinelli-DeVincenzi C, Garcia-Fernandez MI, Panico F, De-Santis G, Tiozzo R, Ronchetti I, Quaglino D. Fibroblast protein profile analysis highlights the role of oxidative stress and vitamin-K recycling in the pathogenesis of pseudoxanthoma elasticum. Proteomics Clin Appl. 2009 Sep;3(9):1-15. PMID: 21137008

Garcia-Fernandez MI, Gheduzzi D, Boraldi F, Paolinelli CD, Sanchez P, Valdivielso P, Morilla MJ, Quaglino D, Guerra D, Casolari S, Bercovitch L, Pasquali-Ronchetti I. Parameters of oxidative stress are present in the circulation of PXE patients. Biochim Biophys Acta. 2008 Jul-Aug;1782(7-8):474-81. PMID: 18513494

Gheduzzi D, Boraldi F, Annovi G, DeVincenzi CP, Schurgers LJ, Vermeer C, Quaglino D, Ronchetti IP. Matrix gla protein is involved in elastic fiber calcification in the dermis of pseudoxanthoma elasticum patients. Lab Invest. 2007 Oct;87(10):998-1008. Free article at Journal Website. PMID: 17724449

Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ,Pasquali-Ronchetti I, De Paepe A. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol. 2007 Mar;127(3):581-7.Free article at Journal Website. PMID: 17110937

Pasquali-Ronchetti I, Garcia-Fernandez MI, Boraldi F, Quaglino D, Gheduzzi D, De Vincenzi Paolinelli C, Tiozzo R, Bergamini S, Ceccarelli D, Muscatello U. Oxidative stress in fibroblasts from patients with pseudoxanthoma elasticum: possible role in the pathogenesis of clinical manifestations. J Pathol. 2006 Jan;208(1):54-61. PMID: 16261549

Boraldi F, Tonelli M, Gheduzzi D, Ronchetti IP, Quaglino D. Identification of mineralized elastic fibers on wet samples by SEM. Microsc Res Tech. 2005 Aug 15;67(6):296-9. PMID: 16173091

Quaglino D, Sartor L, Garbisa S, Boraldi F, Croce A, Passi A, De Luca G, Tiozzo R, Pasquali-Ronchetti I. Dermal fibroblasts from pseudoxanthoma elasticum patients have raised MMP-2 degradative potential.Biochim Biophys Acta. 2005 Jun 30;1741(1-2):42-7. PMID: 15955448

Gheduzzi D, Guerra D, Bochicchio B, Pepe A, Tamburro AM, Quaglino D, Mithieux S, Weiss AS, Pasquali Ronchetti I: Heparan sulphate interacts with tropoelastin, with some tropoelastin peptides and is present in human dermis elastic fibers. Matrix Biol. 2005 Feb;24(1):15-25. PMID: 15748998

Gheduzzi D, Guidetti R, Anzivino C, Tarugi P, Di Leo E, Quaglino D, Pasquali-Ronchetti I. ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). Hum Mutat. 2004 Nov;24(5):438-9. PMID: 15459974

Annovazzi L, Viglio S, Gheduzzi D, Pasquali-Ronchetti I, Zanone C, Cetta G, Iadarola P. High levels of desmosines in urine and plasma of patients with pseudoxanthoma elasticum. Eur J Clin Invest. 2004 Feb;34(2):156-64. PMID: 14764080

Bercovitch L, Robinson-Bostom L, Terry SF, Pasquali-Ronchetti I, Harrist T. Re: yellowish papules on flexural areas in a child. Pediatr Dermatol. 2003 Nov-Dec;20(6):543-5; author reply 545. PMID: 14651582

Boraldi F, Quaglino D, Croce MA, Garcia Fernandez MI, Tiozzo R, Gheduzzi D, Bacchelli B, Pasquali Ronchetti I. Multidrug resistance protein-6 (MRP6) in human dermal fibroblasts. Comparison between cells from normal subjects and from pseudoxanthoma elasticum patients. Matrix Biol. 2003 Nov;22(6):491-500. PMID: 14667841

Gheduzzi D, Sammarco R, Quaglino D, Bercovitch L, Terry S, Taylor W, Ronchetti IP. Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum. Ultrastruct Pathol. 2003 Nov-Dec;27(6):375-84. PMID: 14660276

Hamlin N, Beck K, Bacchelli B, Cianciulli P, Pasquali-Ronchetti I, Le Saux O. Acquired pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients. Br J Haematol. 2003 Sep;122(5):852-4. PMID: 12930400

Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM,Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet. 2001 Oct;69(4):749-64. Free article in PubMed. PMID: 11536079

Gheduzzi D, Taparelli F, Quaglino D Jr, Di Rico C, Bercovitch L, Terry S, Singer DB, Pasquali-Ronchetti I. The placenta in pseudoxanthoma elasticum: clinical, structural and immunochemical study. Placenta. 2001 Jul;22(6):580-90. Download the PDF of this article. PMID: 11440547

Baccarani-Contri M, Bacchelli B, Boraldi F, Quaglino D, Taparelli F, Carnevali E, Francomano MA, Seidenari S, Bettoli V, De Sanctis V, Pasquali-Ronchetti I. Characterization of pseudoxanthoma elasticum-like lesions in the skin of patients with beta-thalassemia. J Am Acad Dermatol. 2001 Jan;44(1):33-9. PMID: 11148474

Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet. 2000 Jun;25(2):223-7. PMID: 10835642

Quaglino D, Boraldi F, Barbieri D, Croce A, Tiozzo R, Pasquali Ronchetti I. Abnormal phenotype of in vitro dermal fibroblasts from patients with Pseudoxanthoma elasticum (PXE). Biochim Biophys Acta. 2000 Apr 15;1501(1):51-62. PMID: 10727849

Bacchelli B, Quaglino D, Gheduzzi D, Taparelli F, Boraldi F, Trolli B, Le Saux O, Boyd CD, Ronchetti IP. Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE). Mod Pathol. 1999 Dec;12(12):1112-23. PMID: 10619263

Le Saux O, Urban Z, Göring HH, Csiszar K, Pope FM, Richards A, Pasquali-Ronchetti I, Terry S, Bercovitch L, Lebwohl MG, Breuning M, van den Berg P, Kornet L, Doggett N, Ott J, de Jong PT, Bergen AA, Boyd CD. Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16. Genomics. 1999 Nov 15;62(1):1-10. PMID: 10585762