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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: sutherland h. 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 Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice.
Keenan CM, Preston AJ, Sutherland H, Wilson PJ, Psarelli EE, Cox TF, Ranganath LR, Jarvis JC, Gallagher JA. Keenan CM, et al. Among authors: sutherland h. JIMD Rep. 2015;24:45-50. doi: 10.1007/8904_2015_437. Epub 2015 May 5. JIMD Rep. 2015. PMID: 25940034 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: sutherland h. 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
Anatomical Distribution of Ochronotic Pigment in Alkaptonuric Mice is Associated with Calcified Cartilage Chondrocytes at Osteochondral Interfaces.
Hughes JH, Keenan CM, Sutherland H, Edwards HR, Wilson PJM, Ranganath LR, Jarvis JC, Bou-Gharios G, Gallagher JA. Hughes JH, et al. Among authors: sutherland h. Calcif Tissue Int. 2021 Feb;108(2):207-218. doi: 10.1007/s00223-020-00764-6. Epub 2020 Oct 14. Calcif Tissue Int. 2021. PMID: 33057760 Free PMC article.
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: sutherland h. 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.
498 results