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Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.
Ranganath LR, Milan AM, Hughes AT, Khedr M, Davison AS, Shweihdi E, Norman BP, Hughes JH, Bygott H, Luangrath E, Fitzgerald R, Psarelli EE, van Kan C, Laan D, Olsson B, Rudebeck M, Mankowitz L, Sireau N, Arnoux JB, Le Quan Sang KH, Jarvis JC, Genovese F, Braconi D, Santucci A, Zatkova A, Glasova H, Stančík R, Imrich R, Rhodes NP, Gallagher JA. Ranganath LR, et al. Among authors: gallagher ja. J Inherit Metab Dis. 2020 Jul;43(4):737-747. doi: 10.1002/jimd.12181. Epub 2020 Feb 5. J Inherit Metab Dis. 2020. PMID: 31609457
Cardiovascular manifestations of Alkaptonuria.
Pettit SJ, Fisher M, Gallagher JA, Ranganath LR. Pettit SJ, et al. Among authors: gallagher ja. J Inherit Metab Dis. 2011 Dec;34(6):1177-81. doi: 10.1007/s10545-011-9339-z. Epub 2011 Apr 20. J Inherit Metab Dis. 2011. PMID: 21506017
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: gallagher ja. 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.
Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.
Hughes JH, Liu K, Plagge A, Wilson PJM, Sutherland H, Norman BP, Hughes AT, Keenan CM, Milan AM, Sakai T, Ranganath LR, Gallagher JA, Bou-Gharios G. Hughes JH, et al. Among authors: gallagher ja. Hum Mol Genet. 2019 Dec 1;28(23):3928-3939. doi: 10.1093/hmg/ddz234. Hum Mol Genet. 2019. PMID: 31600782 Free PMC article.
Nitisinone causes acquired tyrosinosis in alkaptonuria.
Khedr M, Cooper MS, Hughes AT, Milan AM, Davison AS, Norman BP, Sutherland H, Jarvis JC, Fitzgerald R, Markinson L, Psarelli EE, Ghane P, Deutz NEP, Gallagher JA, Ranganath LR. Khedr M, et al. Among authors: gallagher ja. J Inherit Metab Dis. 2020 Sep;43(5):1014-1023. doi: 10.1002/jimd.12229. Epub 2020 Mar 5. J Inherit Metab Dis. 2020. PMID: 32083330
237 results