Publications
Selected publications
- 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 - 2019)
- Anatomical Distribution of Ochronotic Pigment in Alkaptonuric Mice is Associated with Calcified Cartilage Chondrocytes at Osteochondral Interfaces (Journal article - 2021)
- Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria (Journal article - 2020)
2024
An anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and bone
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty
Ranganath, L. R., Khedr, M., Norman, B. P., Hughes, J. H., Imrich, R., Arnoux, J. B., . . . Bou-Gharios, G. (2024). Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty. Molecular Genetics and Metabolism Reports, 40, 101097. doi:10.1016/j.ymgmr.2024.101097
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty
Ranganath, L. R., Khedr, M., Norman, B. P., Hughes, J. H., Imrich, R., Arnoux, J. B., . . . Bou-Gharios, G. (2024). Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty. Molecular genetics and metabolism reports, 40.
2023
Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype
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/genes14030693
2022
Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria
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/metabo12100927
Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism
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.2021.02.007
Altered bone metabolism in the rare inherited disease alkaptonuria
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/
Altered bone metabolism in the rare inherited disease alkaptonuria
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/
Distribution of ochronotic pigment in the connective tissues of an alkaptonuria cadaver
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
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
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/jmd2.12184
Anatomical Distribution of Ochronotic Pigment in Alkaptonuric Mice is Associated with Calcified Cartilage Chondrocytes at Osteochondral Interfaces
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/s00223-020-00764-6
Anatomical examination of an alkaptonuria cadaver
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/
The anatomical distribution of ochronotic pigment in alkaptonuric mice reveals that ageing and mechanical loading make collagen susceptible to chemical attack
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
Phenotyping of a new conditional mouse model of alkaptonuria and investigation of nitisinone-induced tyrosinaemia
Hughes, J. (2020, October 30). Phenotyping of a new conditional mouse model of alkaptonuria and investigation of nitisinone-induced tyrosinaemia.
Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial
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-X
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria
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.12181
Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria
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.12172
2019
The contribution of mouse models in the rare disease alkaptonuria
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.2019.10.005
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
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/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
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/s11306-019-1540-3
Assessing the effect of nitisinone induced hypertyrosinaemia on monoamine neurotransmitters in brain tissue from a murine model of alkaptonuria using mass spectrometry imaging.
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/s11306-019-1531-4
2018
Bone Research Society Abstracts
Bone Research Society Abstracts (2018). JBMR plus, 2(Suppl ), 1-50.
Bone Research Society Abstracts
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/jbm4.10073
GENERATION AND PHENOTYPING OF A TARGETED MOUSE MODEL OF ALKAPTONURIA
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.2018.02.194
Undated
Joint Replacement Risk is Markedly Increased in Alkaptonuria (Aku) in Those with Prior Arthroplasty
Ranganath, L., Khedr, M., Norman, B., Hughes, J. H., Imrich, R., Arnoux, J. -B., . . . Bou-Gharios, G. (n.d.). Joint Replacement Risk is Markedly Increased in Alkaptonuria (Aku) in Those with Prior Arthroplasty.