Posters:
Annalisa Santucci , Vittoria Cicaloni#, Andrea Zatkova , Lia Millucci, Giulia Bernardini , Andrea Bernini , Neri Niccolai , Monica Bianchini , Andrea Zugarini , Alberto Rossi , Matteo Zazzeri, Alfonso Trezza, Daniela Braconi, Ottavia Spiga. An integrated interactive ecosystem for Alkaptonuria: a tool for physicians and researchers. RE(ACT) CONGRESS. 7-10 Marzo 2018, Bologna.
Cicaloni V, Andrea Bernini, Santucci A, Spiga O. A bioinformatic tool for the investigation of HGD mutations responsible for Alkaptonuria. 14th Annual Meeting of the Bioinformatics Italian Society, July 5-7, 2017, University of Cagliari.
Cicaloni V, Rossi A, Zazzeri M, Zugarini A, Santucci A, Bernini A, Spiga O. Towards an integrated interactive database for the search of stratification biomarkers in Alkaptonuria. 13th Annual Meeting of the Bioinformatics Italian Society, June 15-17, 2016, University of Salerno.
Galderisi S, Bernini A, Santucci A. Binding site discovery and virtual drugs repositioning for pharmacological chaperons targeting Homogentisate 1,2- dioxigenase for the treatment of the inborn error of metabolism disorder Alkaptonuria. Giornata Toscana di Bioinformatica e Systems Biology (BIOINFORMATIHA 5). October 28, 2016. Florence.
Publications:
A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria Ottavia Spiga, Vittoria Cicaloni, Andrea Zatkova, Lia Millucci, Giulia Bernardini, Andrea Bernini, Barbara Marzocchi, Monica Bianchini, Andrea Zugarini, Alberto Rossi, Matteo Zazzeri, Alfonso Trezza, Bruno Frediani,Lakshminarayan Ranganath, Daniela Braconi, Annalisa Santucci. Computers in Biology and Medicine; 2018: 103: 1-7
ApreciseKUre: an approach of Precision Medicine in a Rare Disease. Ottavia Spiga, Vittoria Cicaloni, Andrea Bernini, Andrea Zatkova, Annalisa Santucci. BMC Med Inform Decis Mak. 2017;17(1):42. Published 2017 Apr 14. doi:10.1186/s12911-017-0438-0
Homogentisic acid induces aggregation and fibrillation of amyloidogenic proteins. Daniela Braconi, Lia Millucci, Andrea Bernini, Ottavia Spiga, Pietro Lupetti, Barbara Marzocchi, Neri Niccolai, Giulia Bernardini, Annalisa Santucci. Biochim Biophys Acta 2017 Feb 16;1861(2):135-146. Epub 2016 Nov 16.
4-Hydroxyphenylpyruvate Dioxygenase and Its Inhibition in Plants and Animals: Small Molecules as Herbicides and Agents for the Treatment of Human Inherited Diseases. Annalisa Santucci, Giulia Bernardini, Daniela Braconi, Elena Petricci, Fabrizio Manetti. J Med Chem 2017 Feb 14. Epub 2017 Feb 14.
Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots. Gabriella Jacomelli, Vanna Micheli, Giulia Bernardini, Lia Millucci, Annalisa Santucci. JIMD Rep 2017 14;31:51-56. Epub 2016 Apr 14.
Reduced Primary Cilia Length and Altered Arl13b Expression Are Associated with Deregulated Chondrocyte Hedgehog Signalling in Alkaptonuria. Stephen D Thorpe, Silvia Gambassi, Clare L Thompson, Charmilie Chandrakumar, Annalisa Santucci, Martin M Knight. J Cell Physiol 2017 Feb 3. Epub 2017 Feb 3.
A new light on Alkaptonuria: A Fourier-transform infrared microscopy (FTIRM) and low energy X-ray fluorescence (LEXRF) microscopy correlative study on a rare disease. Elisa Mitri, Lia Millucci, Lucia Merolle, Giulia Bernardini, Lisa Vaccari, Alessandra Gianoncelli, Annalisa Santucci. Biochim Biophys Acta 2017 Feb 9. Epub 2017 Feb 9.
Comparative proteomics in alkaptonuria provides insights into inflammation and oxidative stress. Daniela Braconi, Giulia Bernardini, Alessandro Paffetti, Lia Millucci, Michela Geminiani, Marcella Laschi, Bruno Frediani, Barbara Marzocchi, Annalisa Santucci. Int J Biochem Cell Biol 2016 Dec 31;81(Pt B):271-280. Epub 2016 Aug 31.
Smoothened-Antagonists Reverse Homogentisic Acid-Induced Alterations of Hedgehog Signalling and Primary Cilium Length in Alkaptonuria. Silvia Gambassi, Michela Geminiani, Stephen D Thorpe, Giulia Bernardini, Lia Millucci, Daniela Braconi, Maurizio Orlandini, Clare L Thompson, Elena Petricci, Fabrizio Manetti, Maurizio Taddei, Martin M Knight, Annalisa Santucci. J Cell Physiol 2016 Dec 26. Epub 2016 Dec 26.
Angiogenesis in alkaptonuria. Lia Millucci, Giulia Bernardini, Barbara Marzocchi, Daniela Braconi, Michela Geminiani, Silvia Gambassi, Marcella Laschi, Bruno Frediani, Federico Galvagni, Maurizio Orlandini, Annalisa Santucci. J Inherit Metab Dis 2016 Nov 26;39(6):801-806. Epub 2016 Sep 26.
Cytoskeleton Aberrations in Alkaptonuric Chondrocytes. Michela Geminiani, Silvia Gambassi, Lia Millucci, Pietro Lupetti, Giulia Collodel, Lucia Mazzi, Bruno Frediani, Daniela Braconi, Barbara Marzocchi, Marcella Laschi, Giulia Bernardini, Annalisa Santucci. J Cell Physiol 2016 Jul 25. Epub 2016 Jul 25.
Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria. Marcella Laschi, Giulia Bernardini, Elena Dreassi, Lia Millucci, Michela Geminiani, Daniela Braconi, Barbara Marzocchi, Maurizio Botta, Fabrizio Manetti, Annalisa Santucci. ChemMedChem 2016 Apr 7;11(7):674-8. Epub 2016 Mar 7.
Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment. Lakshminarayan R Ranganath, Anna M Milan, Andrew T Hughes, John J Dutton, Richard Fitzgerald, Michael C Briggs, Helen Bygott, Eftychia E Psarelli, Trevor F Cox, James A Gallagher, Jonathan C Jarvis, Christa van Kan, Anthony K Hall, Dinny Laan, Birgitta Olsson, Johan Szamosi, Mattias Rudebeck, Torbjörn Kullenberg, Arvid Cronlund, Lennart Svensson, Carin Junestrand, Hana Ayoob, Oliver G Timmis, Nicolas Sireau, Kim-Hanh Le Quan Sang, Federica Genovese, Daniela Braconi, Annalisa Santucci, Martina Nemethova, Andrea Zatkova, Judith McCaffrey, Peter Christensen, Gordon Ross, Richard Imrich, Jozef Rovensky. Ann Rheum Dis 2016 Feb 4;75(2):362-7. Epub 2014 Dec 4.
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy. Martina Nemethova, Jan Radvanszky, Ludevit Kadasi, David B Ascher, Douglas E V Pires, Tom L Blundell, Berardino Porfirio, Alessandro Mannoni, Annalisa Santucci, Lia Milucci, Silvia Sestini, Gianfranco Biolcati, Fiammetta Sorge, Caterina Aurizi, Robert Aquaron, Mohammed Alsbou, Charles Marques Lourenço, Kanakasabapathi Ramadevi, Lakshminarayan R Ranganath, James A Gallagher, Christa van Kan, Anthony K Hall, Birgitta Olsson, Nicolas Sireau, Hana Ayoob, Oliver G Timmis, Kim-Hanh Le Quan Sang, Federica Genovese, Richard Imrich, Jozef Rovensky, Rangan Srinivasaraghavan, Shruthi K Bharadwaj, Ronen Spiegel, Andrea Zatkova. Eur J Hum Genet 2016 Jan 25;24(1):66-72. Epub 2015 Mar 25.
Oxidative stress and mechanisms of ochronosis in alkaptonuria. Daniela Braconi, Lia Millucci, Giulia Bernardini, Annalisa Santucci. Free Radic Biol Med 2015 Nov 28;88(Pt A):70-80. Epub 2015 Feb 28.
Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria. Giulia Bernardini, Marcella Laschi, Michela Geminiani, Daniela Braconi, Elisa Vannuccini, Pietro Lupetti, Fabrizio Manetti, Lia Millucci, Annalisa Santucci. J Inherit Metab Dis 2015 Sep 12;38(5):807-14. Epub 2015 Mar 12.
Amyloidosis in alkaptonuria. Lia Millucci, Daniela Braconi, Giulia Bernardini, Pietro Lupetti, Josef Rovensky, Lakshminaryan Ranganath, Annalisa Santucci. J Inherit Metab Dis 2015 Sep 14;38(5):797-805. Epub 2015 Apr 14.
Chondroptosis in alkaptonuric cartilage. Lia Millucci, Giovanna Giorgetti, Cecilia Viti, Lorenzo Ghezzi, Silvia Gambassi, Daniela Braconi, Barbara Marzocchi, Alessandro Paffetti, Pietro Lupetti, Giulia Bernardini, Maurizio Orlandini, Annalisa Santucci. J Cell Physiol 2015 May;230(5):1148-57.
Diagnosis of secondary amyloidosis in alkaptonuria. Lia Millucci, Lorenzo Ghezzi, Giulia Bernardini, Daniela Braconi, Pietro Lupetti, Federico Perfetto, Maurizio Orlandini, Annalisa Santucci. Diagn Pathol 2014 Sep 26;9:185. Epub 2014 Sep 26.
Amyloidosis, inflammation, and oxidative stress in the heart of an alkaptonuric patient. Lia Millucci, Lorenzo Ghezzi, Eugenio Paccagnini, Giovanna Giorgetti, Cecilia Viti, Daniela Braconi, Marcella Laschi, Michela Geminiani, Patrizia Soldani, Pietro Lupetti, Maurizio Orlandini, Chiara Benvenuti, Federico Perfetto, Adriano Spreafico, Giulia Bernardini, Annalisa Santucci. Mediators Inflamm 2014 28;2014:258471. Epub 2014 Apr 28.
Secondary amyloidosis in an alkaptonuric aortic valve. Lia Millucci, Lorenzo Ghezzi, Daniela Braconi, Marcella Laschi, Michela Geminiani, Loredana Amato, Maurizio Orlandini, Chiara Benvenuti, Giulia Bernardini, Annalisa Santucci. Int J Cardiol 2014 4;172(1):e121-3. Epub 2014 Jan 4.
Redox proteomics gives insights into the role of oxidative stress in alkaptonuria. Daniela Braconi, Lia Millucci, Lorenzo Ghezzi, Annalisa Santucci. Expert Rev Proteomics 2013 Dec;10(6):521-35.
Antioxidants inhibit SAA formation and pro-inflammatory cytokine release in a human cell model of alkaptonuria. Adriano Spreafico, Lia Millucci, Lorenzo Ghezzi, Michela Geminiani, Daniela Braconi, Loredana Amato, Federico Chellini, Bruno Frediani, Elena Moretti, Giulia Collodel, Giulia Bernardini, Annalisa Santucci. Rheumatology (Oxford) 2013 Sep 23;52(9):1667-73. Epub 2013 May 23.
Alkaptonuria is a novel human secondary amyloidogenic disease. Lia Millucci, Adriano Spreafico, Laura Tinti, Daniela Braconi, Lorenzo Ghezzi, Eugenio Paccagnini, Giulia Bernardini, Loredana Amato, Marcella Laschi, Enrico Selvi, Mauro Galeazzi, Alessandro Mannoni, Maurizio Benucci, Pietro Lupetti, Federico Chellini, Maurizio Orlandini, Annalisa Santucci. Biochim Biophys Acta 2012 Nov 28;1822(11):1682-91. Epub 2012 Jul 28.
Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria. Marcella Laschi, Laura Tinti, Daniela Braconi, Lia Millucci, Lorenzo Ghezzi, Loredana Amato, Enrico Selvi, Adriano Spreafico, Giulia Bernardini, Annalisa Santucci. J Cell Physiol 2012 Sep;227(9):3254-7.
Biochemical and proteomic characterization of alkaptonuric chondrocytes. Daniela Braconi, Giulia Bernardini, Claretta Bianchini, Marcella Laschi, Lia Millucci, Loredana Amato, Laura Tinti, Tommaso Serchi, Federico Chellini, Adriano Spreafico, Annalisa Santucci. J Cell Physiol 2012 Sep;227(9):3333-43.
Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis. Daniela Braconi, Claretta Bianchini, Giulia Bernardini, Marcella Laschi, Lia Millucci, Adriano Spreafico, Annalisa Santucci. J Inherit Metab Dis 2011 Dec 27;34(6):1163-76. Epub 2011 Aug 27.
Development of an in vitro model to investigate joint ochronosis in alkaptonuria. Laura Tinti, Adam M Taylor, Annalisa Santucci, Brenda Wlodarski, Peter J Wilson, Jonathan C Jarvis, William D Fraser, John S Davidson, Lakshminarayan R Ranganath, James A Gallagher. Rheumatology (Oxford) 2011 Feb 15;50(2):271-7. Epub 2010 Oct 15.
Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model. Laura Tinti, Adriano Spreafico, Daniela Braconi, Lia Millucci, Giulia Bernardini, Federico Chellini, Giovanni Cavallo, Enrico Selvi, Mauro Galeazzi, Roberto Marcolongo, James A Gallagher, Annalisa Santucci. J Cell Physiol 2010 Oct;225(1):84-91.