Elenco delle principali pubblicazioni sul PXE cui hanno contribuito, nel corso degli anni, i ricercatori del PXELab


Huang J, Ralph D, Boraldi F, Quaglino D, Uitto J, Li Q. Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum. J Invest Dermatol. 2022:S0022-202X(22)00092-6. 

Lofaro FD, Mucciolo DP, Murro V, Pavese L, Quaglino D, Boraldi F. A Case Report of Pseudoxanthoma Elasticum with Rare Sequence Variants in Genes Related to Inherited Retinal Diseases. Diagnostics (Basel). 2021;11(10):1800. 

Lofaro FD, Mucciolo DP, Murro V, Pavese L, Quaglino D, Boraldi F. From Clinical Diagnosis to the Discovery of Multigene Rare Sequence Variants in Pseudoxanthoma elasticum: A Case Report. Front Med (Lausanne). 2021;8:726856. 

Boraldi F, Murro V, Lofaro FD, Mucciolo DP, Costa S, Pavese L, Quaglino D. Phenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma Elasticum Patients and Update of the Ophthalmologic Evaluation Score. J Clin Med. 2021 Jun 19;10(12):2710. 

Boraldi F, Lofaro FD, Losi L, Quaglino D. Dermal Alterations in Clinically Unaffected Skin of Pseudoxanthoma elasticum Patients. J Clin Med. 2021;10:500.

Boraldi F, Lofaro FD, Quaglino D. Apoptosis in the Extraosseous Calcification Process. Cells. 2021;10:131.

Lofaro FD, Boraldi F, Garcia-Fernandez M, Estrella L, Valdivielso P, Quaglino D. Relationship Between Mitochondrial Structure and Bioenergetics in Pseudoxanthoma elasticum Dermal Fibroblasts. Front Cell Dev Biol. 2020;8:610266.

Murro V, Mucciolo DP, Giorgio D, Pavese L, Boraldi F, Quaglino D, Finocchio L, Sodi A, Virgili G, Giansanti F. Adaptive Optics Imaging in Patients Affected by Pseudoxanthoma Elasticum. Am J Ophthalmol. 2020;224:84-95.

Quaglino D, Boraldi F, Lofaro FD. The biology of vascular calcification. Int Rev Cell Mol Biol. 2020;354:261-353.

Murro V, Mucciolo DP, Giorgio D, Sodi A, Boraldi F, Quaglino D, Virgili G, Giansanti F.¬†Pattern dystrophy-like changes and coquille d’oeuf atrophy in elderly patients affected by pseudoxanthoma elasticum.¬†Graefes Arch Clin Exp Ophthalmol. 2020;258:1881-1892.

Boraldi F, Lofaro FD, Costa S, Moscarelli P, Quaglino D. Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum: Novel Biomolecular Findings. Front Med (Lausanne) 2020;6:322.
Boraldi F, Moscarelli P, Lofaro FD, Sabia C, Quaglino D. The mineralization process of insoluble elastin fibrillar structures: Ionic environment vs degradation. Int J Biol Macromol. 2020;149:693-706. 

Murro V, Mucciolo DP, Giorgio D, Sodi A, Boraldi F, Quaglino D, Virgili G, Rizzo S. Intraretinal hyperreflective foci in PXE-related retinopathy with acquired vitelliform lesions: a long-term follow-up. Ophthalmic Genet. 2019;40(4):385-387. 

Boraldi F, Lofaro FD, Romano O, Grilli A, Losi L, Moscarelli P, Bicciato S, Quaglino D. Exome sequencing and bioinformatic approaches reveals rare sequence variants involved in cell signalling and elastic fibre homeostasis: new evidence in the development of ectopic calcification. Cell Signal. 2019; 59: 131-140.

Bäck M, Aranyi T, Cancela ML, Carracedo M, Conceição N, Leftheriotis G, Macrae V, Martin L, Nitschke Y, Pasch A, Quaglino D, Rutsch F, Shanahan C, Sorribas V, Szeri F, Valdivielso P, Vanakker O, Kempf H. Endogenous Calcification Inhibitors in the Prevention of Vascular Calcification: A Consensus Statement From the COST Action EuroSoftCalcNet. Front Cardiovasc Med. 2019; 5: 196

Murro V, Mucciolo DP, Sodi A, Boraldi F, Quaglino D, Virgili G, Rizzo S. Peripapillary comet lesions and comet rain in PXE-related retinopathy. Graefes Arch Clin Exp Ophthalmol. 2018; 256:1605-1614. 

Carrillo-Linares JL, García-Fernández MI, Morillo MJ, Sánchez P, Rioja J, Barón FJ, Ariza MJ, Harrington DJ, Card D, Boraldi F, Quaglino D, Valdivielso P. The Effects of Parenteral K1 Administration in Pseudoxanthoma Elasticum Patients Versus Controls. A Pilot Study. Front Med (Lausanne). 2018; 5:86.

Perazzolli G, Girolomoni G, Colato C, Quaglino D. Segregation analysis revealed hemizygotic causative mutations in a pseudoxanthoma elasticum patient. J Eur Acad Dermatol Venereol. 2018; 32:e365-e366.

Boraldi F, Burns JS, Bartolomeo A, Dominici M, Quaglino D. Mineralization by mesenchymal stromal cells is variously modulated depending on commercial platelet lysate preparations. Cytotherapy. 2018; 20:335-342.

Boraldi, F., Losi, L., Quaglino D. Pigment epithelial-derived factor: a new player in the calcification of dermal elastic fibre? Br J Dermatol. 2017;177:e44-e46.

Boraldi, F., Bartolomeo, A., Di Bari, C., Cocconi, A., Quaglino, D. Magnesium modifies the structural features of enzymatically mineralized collagen gels affecting the retraction capabilities of human dermal fibroblasts embedded within this 3D system. Materials 2016; 9: 477

Boraldi F, Bartolomeo A, De Biasi S, Orlando S, Costa S, Cossarizza A, Quaglino D. Innovative flow cytometry allows accurate identification of rare circulating cells involved in endothelial dysfunction. PLoS One. 2016;11:e0160153. 

Taverna D, Boraldi F, De Santis G, Caprioli RM, Quaglino D. Histology-directed and imaging mass spectrometry: An emerging technology in ectopic calcification. Bone 2015; 74:83-94

Boraldi F, Costa S, Rabacchi C, Ciani M, Vanakker O, Quaglino D. Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients? Mol Genetics Metabolism Reports 2014; 1: 477-482

Kariminejad A, Bozorgmehr B, Najafi A, Khoshaeen A, Ghalandari M, Najmabadi H, Hasan Kariminejad M, 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; 134: 2331-2338

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 Tissue Mineralization. J Invest Dermatol. 2014; 134: 1855-1861

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; 74: 72-80.

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

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

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;133:946-54.

Quaglino D., Boraldi F., Annovi G., Ronchetti I.¬†The multifaceted complexity of genetic diseases: a lesson from pseudoxanthoma elasticum. In: ‚ÄúAdvances in the Study of Genetic Disorders‚ÄĚ,¬† edited by K. Ikehara,¬†Intech Publisher,ISBN 978-953-307-305-7, pp.289-318, 2011

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

Pisciotta L, Tarugi P, Borrini C, Bellocchio 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;210:173-6.

Vanakker OM, Martin L, Schurgers LJ, Quaglino D, Costrop L, Vermeer C, Pasquali-Ronchetti I, Coucke PJ, 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;90:895-905.

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-Clinical Applications 2009; 3: 1084-1098.

Quaglino D., Boraldi F., Annovi G., Guerra D. and Ronchetti I.¬†Connective tissue and diseases: from morphology to proteomics towards the development of new therapeutic approaches.¬†Gastroenterol. Hepatol. ‚Äď From Bed to Bench ¬†2009; 2:S56-S65.

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: 80-81.

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;1782:474-81.

Gheduzzi D, Boraldi F, Annovi G, DeVincenzi CP, Schurgers LJ, Vermeer C, Quaglino D, Pasquali-Ronchetti I.  Matrix Gla protein is involved in elastic fiber calcification in the dermis of pseudoxanthoma elasticum patients. Lab Invest. 2007;87:998-1008.

Soutome N, Sugahara M, Okada AA, Hida T. 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;127:581-7.

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, 208: 54-61

Boraldi F, Tonelli M, Gheduzzi D, Pasquali-Ronchetti I, Quaglino D. Identification of mineralized elastic fibers on wet samples by SEM.  Microsc Res Tech. 2005;67:296-9.

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;1741:42-7.

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;34:156-64.

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;24:438-9.

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;1741:42-7.

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;22:491-500.

Gheduzzi D, Sammarco R, Quaglino D, Bercovitch L, Terry S, Taylor W, Pasquali-Ronchetti I. Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum. Ultrastruct Pathol. 2003;27:375-84.

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;122:852-4.

Cianciulli P, Sorrentino F, Maffei L, Amadori S, Cappabianca MP, Foglietta E, Carnevali E, Pasquali-Ronchetti I. Cardiovascular involvement in thalassaemic patients with pseudoxanthoma elasticum-like skin lesions: a long-term follow-up study. Eur J Clin Invest. 2002;32:700-6.

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;44:33-9.

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;22:580-90.

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;69:749-64. Erratum in: Am J Hum Genet 2001 Dec;69:1413. Am J Hum Genet 2002;71:448.

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;25:223-7.

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;1501:51-62.

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

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;62:1-10. Erratum in: Genomics 2000;63:439.

Baccarani Contri M, Boraldi F, Taparelli F, De Paepe A, Pasquali-Ronchetti I. Matrix proteins with high affinity for calcium ions are associated with mineralization within the elastic fibers of pseudoxanthoma  elasticum dermis. Am J Pathol. 1996;148:569-77.

Passi A, Albertini R, Baccarani Contri M, de Luca G, de Paepe A, Pallavicini G, Pasquali-Ronchetti I, Tiozzo R.  Proteoglycan alterations in skin fibroblast cultures from patients affected with  pseudoxanthoma elasticum. Cell Biochem Funct. 1996;14:111-20.

Baccarani-Contri M, Vincenzi D, Cicchetti F, Mori G, Pasquali-Ronchetti I. Immunochemical  identification of abnormal constituents in the dermis of pseudoxanthoma elasticum patients. Eur J Histochem. 1994;38:111-23.

Tiozzo Costa R, Baccarani Contri M, Cingi MR, Pasquali-Ronchetti I, Salvini R, Rindi S, De Luca G.  Pseudoxanthoma elasticum (PXE): ultrastructural and biochemical study on proteoglycan and proteoglycan-associated material produced by skin fibroblasts in vitro.Coll Relat Res. 1988;8:49-64.

Pasquali-Ronchetti I, Baccarani Contri M, Pincelli C, Bertazzoni GM. Effect of selective enzymatic digestions on skin biopsies from pseudoxanthoma elasticum: an ultrastructural study. Arch Dermatol Res. 1986;278:386-92.

Pasquali-Ronchetti I, Volpin D, Baccarani-Contri M, Castellani I, Peserico A. Pseudoxanthoma elasticum. Biochemical and ultrastructural studies. Dermatologica. 1981;163:307-25.