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Alkaptonuria.
Bernardini G, Braconi D, Zatkova A, Sireau N, Kujawa MJ, Introne WJ, Spiga O, Geminiani M, Gallagher JA, Ranganath LR, Santucci A. Bernardini G, et al. Among authors: braconi d. Nat Rev Dis Primers. 2024 Mar 7;10(1):16. doi: 10.1038/s41572-024-00498-x. Nat Rev Dis Primers. 2024. PMID: 38453957 Review.
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.
Ranganath LR, Milan AM, Hughes AT, Dutton JJ, Fitzgerald R, Briggs MC, Bygott H, Psarelli EE, Cox TF, Gallagher JA, Jarvis JC, van Kan C, Hall AK, Laan D, Olsson B, Szamosi J, Rudebeck M, Kullenberg T, Cronlund A, Svensson L, Junestrand C, Ayoob H, Timmis OG, Sireau N, Le Quan Sang KH, Genovese F, Braconi D, Santucci A, Nemethova M, Zatkova A, McCaffrey J, Christensen P, Ross G, Imrich R, Rovensky J. Ranganath LR, et al. Among authors: braconi d. Ann Rheum Dis. 2016 Feb;75(2):362-7. doi: 10.1136/annrheumdis-2014-206033. Epub 2014 Dec 4. Ann Rheum Dis. 2016. PMID: 25475116 Clinical Trial.
Oxidative stress and mechanisms of ochronosis in alkaptonuria.
Braconi D, Millucci L, Bernardini G, Santucci A. Braconi D, et al. Free Radic Biol Med. 2015 Nov;88(Pt A):70-80. doi: 10.1016/j.freeradbiomed.2015.02.021. Epub 2015 Feb 28. Free Radic Biol Med. 2015. PMID: 25733348 Review.
Amyloidosis in alkaptonuria.
Millucci L, Braconi D, Bernardini G, Lupetti P, Rovensky J, Ranganath L, Santucci A. Millucci L, et al. Among authors: braconi d. J Inherit Metab Dis. 2015 Sep;38(5):797-805. doi: 10.1007/s10545-015-9842-8. Epub 2015 Apr 14. J Inherit Metab Dis. 2015. PMID: 25868666 Review.
Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria.
Laschi M, Bernardini G, Dreassi E, Millucci L, Geminiani M, Braconi D, Marzocchi B, Botta M, Manetti F, Santucci A. Laschi M, et al. Among authors: braconi d. ChemMedChem. 2016 Apr 5;11(7):674-8. doi: 10.1002/cmdc.201500578. Epub 2016 Mar 7. ChemMedChem. 2016. PMID: 26947423
Angiogenesis in alkaptonuria.
Millucci L, Bernardini G, Marzocchi B, Braconi D, Geminiani M, Gambassi S, Laschi M, Frediani B, Galvagni F, Orlandini M, Santucci A. Millucci L, et al. Among authors: braconi d. J Inherit Metab Dis. 2016 Nov;39(6):801-806. doi: 10.1007/s10545-016-9976-3. Epub 2016 Sep 26. J Inherit Metab Dis. 2016. PMID: 27671890
Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the DevelopAKUre project.
Braconi D, Giustarini D, Marzocchi B, Peruzzi L, Margollicci M, Rossi R, Bernardini G, Millucci L, Gallagher JA, Le Quan Sang KH, Imrich R, Rovensky J, Al-Sbou M, Ranganath LR, Santucci A. Braconi D, et al. Osteoarthritis Cartilage. 2018 Aug;26(8):1078-1086. doi: 10.1016/j.joca.2018.05.017. Epub 2018 May 29. Osteoarthritis Cartilage. 2018. PMID: 29852277 Free article.
A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria.
Spiga O, Cicaloni V, Zatkova A, Millucci L, Bernardini G, Bernini A, Marzocchi B, Bianchini M, Zugarini A, Rossi A, Zazzeri M, Trezza A, Frediani B, Ranganath L, Braconi D, Santucci A. Spiga O, et al. Among authors: braconi d. Comput Biol Med. 2018 Dec 1;103:1-7. doi: 10.1016/j.compbiomed.2018.10.002. Epub 2018 Oct 5. Comput Biol Med. 2018. PMID: 30316064
64 results