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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: hughes at, hughes jh. 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
Correction to: Assessing the effect of nitisinone induced hypertyrosinaemia on monoamine neurotransmitters in brain tissue from a murine model of alkaptonuria using mass spectrometry imaging.
Davison AS, Strittmatter N, Sutherland H, Hughes AT, Hughes J, Bou-Gharios G, Milan AM, Goodwin RJA, Ranganath LR, Gallagher JA. Davison AS, et al. Metabolomics. 2019 May 18;15(5):81. doi: 10.1007/s11306-019-1540-3. Metabolomics. 2019. PMID: 31104147 Free PMC article.
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: hughes at. Hum Mol Genet. 2019 Dec 1;28(23):3928-3939. doi: 10.1093/hmg/ddz234. Hum Mol Genet. 2019. PMID: 31600782 Free PMC article.
Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial.
Ranganath LR, Psarelli EE, Arnoux JB, Braconi D, Briggs M, Bröijersén A, Loftus N, Bygott H, Cox TF, Davison AS, Dillon JP, Fisher M, FitzGerald R, Genovese F, Glasova H, Hall AK, Hughes AT, Hughes JH, Imrich R, Jarvis JC, Khedr M, Laan D, Le Quan Sang KH, Luangrath E, Lukáčová O, Milan AM, Mistry A, Mlynáriková V, Norman BP, Olsson B, Rhodes NP, Rovenský J, Rudebeck M, Santucci A, Shweihdi E, Scott C, Sedláková J, Sireau N, Stančík R, Szamosi J, Taylor S, van Kan C, Vinjamuri S, Vrtíková E, Webb C, West E, Záňová E, Zatkova A, Gallagher JA. Ranganath LR, et al. Among authors: hughes at, hughes jh. Lancet Diabetes Endocrinol. 2020 Sep;8(9):762-772. doi: 10.1016/S2213-8587(20)30228-X. Epub 2020 Aug 18. Lancet Diabetes Endocrinol. 2020. PMID: 32822600 Clinical Trial.
Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism.
Norman BP, Davison AS, Hughes JH, Sutherland H, Wilson PJ, Berry NG, Hughes AT, Milan AM, Jarvis JC, Roberts NB, Ranganath LR, Bou-Gharios G, Gallagher JA. Norman BP, et al. Among authors: hughes at, hughes jh. Genes Dis. 2021 Feb 22;9(4):1129-1142. doi: 10.1016/j.gendis.2021.02.007. eCollection 2022 Jul. Genes Dis. 2021. PMID: 35685462 Free PMC article.
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