Daniela Quaglino, PhD

Daniela Quagliano

Professor, General Pathology
Department of LIfe Sciences
University of Modena and Reggio Emilia (UniMoRe), Modena, Italy

Daniela Quaglino received a degree in Biological Science cum laude at the University of Modena in 1984, and a PhD in Experimental Pathology in 1992 at the University of Bologna (Italy). She has been Visiting Postdoctoral Research Fellow (1988-89) and Visiting Research Associate (1993) at the Department  of Pathology, Vanderbilt University, Nashville, USA. As a faculty member of UniMoRe, she has been Assistant Professor in General Pathology and Oncology (1992-2001), Associate Professor in General Pathology (2001-2013) and, at present, she is Full Professor of General Pathology and Head of the Departtment of Life Sciences. She is member of several national and International scientific societies, and during the last decade she has also been involved in the activities of PXE Italia Onlus [www.pxeitalia.unimo.it], the Italian organization affiliated with PXE International, which supports patients and their families and promotes the research on PXE. She is coordinator of the PXELab, a laboratory that, in collaboration with LabGen and the Center for Genomic Research at the Department of Life Sciences, is devoted to PXE reasearch and to PXE ultrastructural and biomolecular diagnosis.

 Over the last two decades, her research has been mainly focused on the biology and pathology of the extracellular matrix and on the alterations occurring in skin and blood vessels during aging or in acquired as well as in genetic diseases. In particular, she participated in the international task force working on the discovery of the PXE gene, and has been investigating the molecular pathways involved in the pathogenesis of PXE by identifying molecules involved in elastic fiber calcification and by characterizing changes in the behavior and in the protein profile of PXE fibroblasts.

Areas of Interest

Genetics of PXE, ABCC6 Protein, PXE and the Metabolism, Clinical Manifestations


Boraldi F, Bartolomeo A, Li Q, Uitto J, Quaglino D. Changes in dermal fibroblasts from Abcc6(-/-) mice are present before and after the onset of ectopic tissuue mineralization. J Invest Dermatol. 2014 Jul;134(7):1855-61. PMID: 24670382

Kariminejad A, Bozorgmehr B, Najafi A, Khoshaeen A, Ghalandari M, Najmabadi H, Kariminejad MH, Vanakker OM, Hosen MJ, Malfait F, Quaglino D, Florijn RJ, Bergen AA, Hennekam RC. Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations. J Invest Dermatol. 2014 Apr 16. doi: 10.1038/jid.2014.191. [Epub ahead of print] PMID: 24739904

Boraldi F, Annovi G, Bartolomeo A, Quaglino D. Fibroblasts from patients affected by pseudoxanthoma elasticum exhibit an altered PPi metabolism and are more responsive to pro-calcifying stimuli. J Dermatol Sci. 2014 Apr;74(1):72-80. PMID: 24461675

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

Boraldi F, Annovi G, Vermeer C, Schurgers LJ, Trenti T, Tiozzo R, Guerra D, Quaglino D. Matrix Gla protein and alkaline phosphatase are differently modulated in human dermal fibroblasts from PXE patients and controls. J Invest Dermatol. 2013 Apr:133(4):946-54. PMID: 23223140

Ronchetti I, Boraldi F, Annovi G, Cianciulli P, Quaglino D. Fibroblast involvement in soft connective tissue calcification. Front Genet. 2013 Mar 5;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.

Vanakker O, Martin L, Schurgers L, Quaglino D, Vermeer C, Pasquali-Ronchetti I, Coucke P, De Paepe A. Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome. Lab Invest. 2010 Jun;90:895-905. Free article in PubMed. 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;210:173-6. PMID: 20018285

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):1084-98. 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

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 Mutat2004;24: 438-9, and #775, pp 1-10 online, 2004. PMID: 15459974

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

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