2023
Neuckermans, J., Lequeue, S., Claes, P., Heymans, A., Hughes, J. H., Colemonts-Vroninks, H., . . . De Kock, J. (2023). Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype. GENES, 14(3). doi:10.3390/genes14030693DOI: 10.3390/genes14030693
2022
Norman, B. P., Davison, A. S., Hickton, B., Ross, G. A., Milan, A. M., Hughes, A. T., . . . Ranganath, L. R. (2022). Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria. METABOLITES, 12(10). doi:10.3390/metabo12100927DOI: 10.3390/metabo12100927
Norman, B. P., Davison, A. S., Hughes, J. H., Sutherland, H., Wilson, P. J. M., Berry, N. G., . . . Gallagher, J. A. (2022). Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism. GENES & DISEASES, 9(4), 1129-1142. doi:10.1016/j.gendis.2021.02.007DOI: 10.1016/j.gendis.2021.02.007
Altered bone metabolism in the rare inherited disease alkaptonuria (Conference Paper)
Norman, B. P., Hughes, J. H., Sutherland, H., Wilson, P. J., Ranganath, L. R., Bou-Gharios, G., & Gallagher, J. A. (2022). Altered bone metabolism in the rare inherited disease alkaptonuria. In INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY Vol. 103 (pp. A8-A9). Retrieved from https://www.webofscience.com/
Altered bone metabolism in the rare inherited disease alkaptonuria (Conference Paper)
Norman, B. P., Hughes, J. H., Sutherland, H., Wilson, P. J., Ranganath, L. R., Bou-Gharios, G., & Gallagher, J. A. (2022). Altered bone metabolism in the rare inherited disease alkaptonuria. In INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY Vol. 103 (pp. A3). Retrieved from https://www.webofscience.com/
Distribution of ochronotic pigment in the connective tissues of an alkaptonuria cadaver (Conference Paper)
Hughes, J. H., Thomas, N. P., Rothwell, P. D., Tierney, C. M., Ranganath, L. R., Gallagher, J. A., & Bond, A. P. (2022). Distribution of ochronotic pigment in the connective tissues of an alkaptonuria cadaver. In INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY Vol. 103 (pp. A8). Retrieved from https://www.webofscience.com/
2021
Wilson, P. J. M., Ranganath, L. R., Bou-Gharios, G., Gallagher, J. A., & Hughes, J. H. (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), 52-60. doi:10.1002/jmd2.12184DOI: 10.1002/jmd2.12184
Hughes, J. H., Keenan, C. M., Sutherland, H., Edwards, H. R., Wilson, P. J. M., Ranganath, L. R., . . . Gallagher, J. A. (n.d.). Anatomical Distribution of Ochronotic Pigment in Alkaptonuric Mice is Associated with Calcified Cartilage Chondrocytes at Osteochondral Interfaces. Calcified Tissue International. doi:10.1007/s00223-020-00764-6DOI: 10.1007/s00223-020-00764-6
Anatomical examination of an alkaptonuria cadaver (Conference Paper)
Hughes, J., Thomas, N., Rothwell, P., Tierney, C., Ranganath, L., Gallagher, J., & Bond, A. (2021). Anatomical examination of an alkaptonuria cadaver. In JOURNAL OF ANATOMY Vol. 239 (pp. 948). Retrieved from https://www.webofscience.com/
Hughes, J. H., Keenan, C. M., Sutherland, H., Edwards, H. R., Ranganath, L. R., Bou-Gharios, G., & Gallagher, J. A. (2021). The anatomical distribution of ochronotic pigment in alkaptonuric mice reveals that ageing and mechanical loading make collagen susceptible to chemical attack. In JOURNAL OF ANATOMY Vol. 238 (pp. 200). Retrieved from https://www.webofscience.com/
2020
Hughes, J. (2020, October 30). Phenotyping of a new conditional mouse model of alkaptonuria and investigation of nitisinone-induced tyrosinaemia.
Ranganath, L. R., Psarelli, E. E., Arnoux, J. -B., Braconi, D., Briggs, M., Broijersen, A., . . . Gallagher, J. A. (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), 762-772. doi:10.1016/S2213-8587(20)30228-XDOI: 10.1016/S2213-8587(20)30228-X
Ranganath, L. R., Milan, A. M., Hughes, A. T., Khedr, M., Davison, A. S., Shweihdi, E., . . . Gallagher, J. A. (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), 737-747. doi:10.1002/jimd.12181DOI: 10.1002/jimd.12181
Hughes, J. H., Wilson, P. J. M., Sutherland, H., Judd, S., Hughes, A. T., Milan, A. M., . . . Gallagher, J. A. (2020). Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria. JOURNAL OF INHERITED METABOLIC DISEASE, 43(2), 259-268. doi:10.1002/jimd.12172DOI: 10.1002/jimd.12172
2019
Hughes, J. H., Bou-Gharios, G., Ranganath, L. R., & Gallagher, J. A. (2019). The contribution of mouse models in the rare disease alkaptonuria. Drug Discovery Today: Disease Models. doi:10.1016/j.ddmod.2019.10.005DOI: 10.1016/j.ddmod.2019.10.005
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 (Journal article)
Hughes, J. H., Liu, K., Plagge, A., Wilson, P. J. M., Sutherland, H., Norman, B. P., . . . Bou-Gharios, G. (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), 3928-3939. doi:10.1093/hmg/ddz234DOI: 10.1093/hmg/ddz234
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 (Journal article)
Davison, A. S., Strittmatter, N., Sutherland, H., Hughes, A. T., Hughes, J., Bou-Gharios, G., . . . Gallagher, J. A. (2019). 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. Metabolomics, 15(5). doi:10.1007/s11306-019-1540-3DOI: 10.1007/s11306-019-1540-3
Assessing the effect of nitisinone induced hypertyrosinaemia on monoamine neurotransmitters in brain tissue from a murine model of alkaptonuria using mass spectrometry imaging. (Journal article)
Davison, A. S., Strittmatter, N., Sutherland, H., Hughes, A. T., Hughes, J., Bou-Gharios, G., . . . Gallagher, J. A. (2019). Assessing the effect of nitisinone induced hypertyrosinaemia on monoamine neurotransmitters in brain tissue from a murine model of alkaptonuria using mass spectrometry imaging.. Metabolomics : Official journal of the Metabolomic Society, 15(5), 68. doi:10.1007/s11306-019-1531-4DOI: 10.1007/s11306-019-1531-4
2018
Bone Research Society Abstracts (Journal article)
Bradley, M., Martin, I., Roelofs, A., Khosla, S., Mahajan, S., Heller, M. O., . . . Evans, B. (2018). Bone Research Society Abstracts. JBMR Plus, 2(S1). doi:10.1002/jbm4.10073DOI: 10.1002/jbm4.10073
Hughes, J. H., Liu, K., Sutherland, H., Wilson, P. J., Hughes, A. T., Milan, A. M., . . . Bou-Gharios, G. (2018). GENERATION AND PHENOTYPING OF A TARGETED MOUSE MODEL OF ALKAPTONURIA. In OSTEOARTHRITIS AND CARTILAGE Vol. 26 (pp. S89-S90). doi:10.1016/j.joca.2018.02.194DOI: 10.1016/j.joca.2018.02.194
