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Hughes, Juliette H ORCID: 0000-0001-6155-4136, Keenan, Craig M ORCID: 0000-0002-8782-8016, Sutherland, Hazel, Edwards, Henry R, Wilson, Peter JM, Ranganath, Lakshminarayan R, Jarvis, Jonathan C, Bou-Gharios, George and Gallagher, James A ORCID: 0000-0002-0852-279X (2021) Anatomical Distribution of Ochronotic Pigment in Alkaptonuric Mice is Associated with Calcified Cartilage Chondrocytes at Osteochondral Interfaces. Calcified Tissue International, 108 (2). pp. 207-218.

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Norman, Brendan P ORCID: 0000-0001-9293-4852, Davison, Andrew S ORCID: 0000-0001-5501-4475, Hickton, Bryony, Ross, Gordon A, Milan, Anna M ORCID: 0000-0002-0452-2338, Hughes, Andrew T, Wilson, Peter JM, Sutherland, Hazel, Hughes, Juliette H ORCID: 0000-0001-6155-4136, Roberts, Norman B et al (show 3 more authors) , Bou-Gharios, George, Gallagher, James A and Ranganath, Lakshminarayan R (2022) Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria. METABOLITES, 12 (10). 927-.

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Hughes, Juliette H ORCID: 0000-0001-6155-4136, Liu, Ke, Plagge, Antonius ORCID: 0000-0001-6592-1343, Wilson, Peter JM, Sutherland, Hazel, Norman, Brendan P ORCID: 0000-0001-9293-4852, Hughes, Andrew T, Keenan, Craig M ORCID: 0000-0002-8782-8016, Milan, Anna M ORCID: 0000-0002-0452-2338, Sakai, Takao ORCID: 0000-0002-7375-5450 et al (show 3 more authors) , Ranganath, Lakshminarayan R, Gallagher, James A and Bou-Gharios, George (2019) 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. Human Molecular Genetics, 28 (23). pp. 3928-3939.

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Hughes, Juliette H ORCID: 0000-0001-6155-4136, Liu, Ke, Plagge, Antonius ORCID: 0000-0001-6592-1343, Wilson, Peter JM, Sutherland, Hazel, Norman, Brendan P, Hughes, Andrew T, Keenan, Craig M, Milan, Anna M, Sakai, Takao ORCID: 0000-0002-7375-5450 et al (show 3 more authors) , Ranganath, Lakshminarayan R, Gallagher, James A and Bou-Gharios, George ORCID: 0000-0002-9563-9418 (2019) 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. Human molecular genetics.

Hughes, Juliette H ORCID: 0000-0001-6155-4136, Wilson, Peter JM, Sutherland, Hazel, Judd, Shirley, Hughes, Andrew T, Milan, Anna M ORCID: 0000-0002-0452-2338, Jarvis, Jonathan C, Bou-Gharios, George, Ranganath, Lakshminarayan R and Gallagher, James A (2020) Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria. JOURNAL OF INHERITED METABOLIC DISEASE, 43 (2). pp. 259-268.

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Ranganath, Lakshminarayan R, Psarelli, Eftychia Eirini ORCID: 0000-0002-3102-0288, Arnoux, Jean-Baptiste, Braconi, Daniela, Briggs, Michael, Broijersen, Anders, Loftus, Nadia, Bygott, Helen, Cox, Trevor F, Davison, Andrew S ORCID: 0000-0001-5501-4475 et al (show 39 more authors) , Dillon, Jane P ORCID: 0000-0002-7055-5664, Fisher, Michael, FitzGerald, Richard, Genovese, Federica, Glasova, Helena, Hall, Anthony K, Hughes, Andrew T, Hughes, Juliette H ORCID: 0000-0001-6155-4136, Imrich, Richard, Jarvis, Jonathan C, Khedr, Milad, Laan, Dinny, Sang, Kim-Hanh Le Quan, Luangrath, Emily, Lukacova, Olga, Milan, Anna M, Mistry, Alpesh, Mlynarikova, Vanda, Norman, Brendan P ORCID: 0000-0001-9293-4852, Olsson, Birgitta, Rhodes, Nicholas P ORCID: 0000-0002-5173-7032, Rovensky, Jozef, Rudebeck, Mattias, Santucci, Annalisa, Shweihdi, Ella, Scott, Ciaran, Sedlakova, Jana, Sireau, Nicolas, Stancik, Roman, Szamosi, Johan, Taylor, Sophie, van Kan, Christa, Vinjamuri, Sobhan, Vrtikova, Eva, Webb, Chris, West, Elizabeth, Zanova, Elizabeth, Zatkova, Andrea and Gallagher, James A ORCID: 0000-0002-0852-279X (2020) Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial. The Lancet Diabetes and Endocrinology, 8 (9). pp. 762-772.

Wilson, Peter JM, Ranganath, Lakshminarayan R, Bou-Gharios, George, Gallagher, James A ORCID: 0000-0002-0852-279X and Hughes, Juliette H ORCID: 0000-0001-6155-4136 (2021) Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentation. JIMD reports, 58 (1). pp. 52-60.

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Neuckermans, Jessie, Lequeue, Sien, Claes, Paul, Heymans, Anja, Hughes, Juliette H ORCID: 0000-0001-6155-4136, Colemonts-Vroninks, Haaike, Marcelis, Lionel, Casimir, Georges, Goyens, Philippe, Martens, Geert A et al (show 4 more authors) , Gallagher, James A, Vanhaecke, Tamara, Bou-Gharios, George and De Kock, Joery (2023) Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype. GENES, 14 (3). 693-.

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Ranganath, Lakshminarayan R, Milan, Anna M ORCID: 0000-0002-0452-2338, Hughes, Andrew T, Khedr, Milad ORCID: 0000-0002-4998-2397, Davison, Andrew S ORCID: 0000-0001-5501-4475, Shweihdi, Ella, Norman, Brendan P ORCID: 0000-0001-9293-4852, Hughes, Juliette H ORCID: 0000-0001-6155-4136, Bygott, Helen, Luangrath, Emily et al (show 20 more authors) , Fitzgerald, Richard, Psarelli, Eftychia E ORCID: 0000-0002-3102-0288, van Kan, Christa, Laan, Dinny, Olsson, Birgitta, Rudebeck, Mattias, Mankowitz, Louise, Sireau, Nicolas, Arnoux, Jean-Baptiste, Sang, Kim-Hanh Le Quan, Jarvis, Jonathan C, Genovese, Federica, Braconi, Daniela, Santucci, Annalisa, Zatkova, Andrea, Glasova, Helena, Stancik, Roman, Imrich, Richard, Rhodes, Nicholas P ORCID: 0000-0002-5173-7032 and Gallagher, James A ORCID: 0000-0002-0852-279X (2020) Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria. JOURNAL OF INHERITED METABOLIC DISEASE, 43 (4). pp. 737-747.

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Norman, Brendan P ORCID: 0000-0001-9293-4852, Davison, Andrew S ORCID: 0000-0001-5501-4475, Hughes, Juliette H ORCID: 0000-0001-6155-4136, Sutherland, Hazel, Wilson, Peter JM, Berry, Neil G ORCID: 0000-0003-1928-0738, Hughes, Andrew T, Milan, Anna M, Jarvis, Jonathan C, Roberts, Norman B et al (show 3 more authors) , Ranganath, Lakshminarayan R, Bou-Gharios, George and Gallagher, James A ORCID: 0000-0002-0852-279X (2022) Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism. GENES & DISEASES, 9 (4). pp. 1129-1142.

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Norman, Brendan P ORCID: 0000-0001-9293-4852, Davison, Andrew S ORCID: 0000-0001-5501-4475, Hughes, Juliette H ORCID: 0000-0001-6155-4136, Sutherland, Hazel, Wilson, Peter J, Berry, Neil G, Hughes, Andrew T, Milan, Anna M, Jarvis, Jonathan C, Roberts, Norman B et al (show 3 more authors) , Ranganath, Lakshminarayan R, Bou-Gharios, George and Gallagher, James A (2020) Studies in alkaptonuria reveal new roles beyond drug clearance for phase I and II biotransformations in tyrosine metabolism. biorxiv. (Unpublished)

Hughes, Juliette H ORCID: 0000-0001-6155-4136, Keenan, Craig M ORCID: 0000-0002-8782-8016, Sutherland, Hazel, Edwards, Henry R, Ranganath, Lakshminarayan R, Bou-Gharios, George and Gallagher, James A ORCID: 0000-0002-0852-279X (2021) The anatomical distribution of ochronotic pigment in alkaptonuric mice reveals that ageing and mechanical loading make collagen susceptible to chemical attack. .

Hughes, Juliette H ORCID: 0000-0001-6155-4136, Bou-Gharios, George, Ranganath, Lakshminarayan R and Gallagher, James A (2019) The contribution of mouse models in the rare disease alkaptonuria. Drug Discovery Today: Disease Models, 31. pp. 37-43.