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2024

Identification of novel bone-resorption markers by osteoclasts<i>in vitro</i>and<i>in vivo</i>

DOI
10.1101/2024.05.10.593489
Preprint

2023

Short-term nitisinone discontinuation of hereditary tyrosinemia type 1 mice causes metabolic alterations in glutathione metabolism/biosynthesis and multiple amino acid degradation pathways

Haaike, C. -V., Brendan, N. P., Sven, V. L., Andrew, D. S., Lionel, M., Georges, C., . . . Joery, D. K. (2023). Short-term nitisinone discontinuation of hereditary tyrosinemia type 1 mice causes metabolic alterations in glutathione metabolism/biosynthesis and multiple amino acid degradation pathways. GENES & DISEASES, 10(5), 1759-1762. doi:10.1016/j.gendis.2022.11.013

DOI
10.1016/j.gendis.2022.11.013
Journal article

Evaluation of Homogentisic Acid, a Prospective Antibacterial Agent Highlighted by the Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2) Clinical Trial

Ooi, N., Cooper, I. R., Norman, B., Gallagher, J. A., Sireau, N., Bou-Gharios, G., . . . Savage, V. J. (2023). Evaluation of Homogentisic Acid, a Prospective Antibacterial Agent Highlighted by the Suitability of Nitisinone in Alkaptonuria 2 (SONIA 2) Clinical Trial. CELLS, 12(13). doi:10.3390/cells12131683

DOI
10.3390/cells12131683
Journal article

Post-Transcriptional Regulatory Crosstalk between MicroRNAs and Canonical TGF-β/BMP Signalling Cascades on Osteoblast Lineage: A Comprehensive Review.

Loh, H. -Y., Norman, B. P., Lai, K. -S., Cheng, W. -H., Nik Abd Rahman, N. M. A., Mohamed Alitheen, N. B., & Osman, M. A. (2023). Post-Transcriptional Regulatory Crosstalk between MicroRNAs and Canonical TGF-β/BMP Signalling Cascades on Osteoblast Lineage: A Comprehensive Review.. International journal of molecular sciences, 24(7), 6423. doi:10.3390/ijms24076423

DOI
10.3390/ijms24076423
Journal article

Alkaptonuria - Past, present and future.

Davison, A. S., & Norman, B. P. (2023). Alkaptonuria - Past, present and future.. In Unknown Book (Vol. 114, pp. 47-81). doi:10.1016/bs.acc.2023.02.005

DOI
10.1016/bs.acc.2023.02.005
Chapter

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

DOI
10.3390/metabo12100927
Journal article

Comparing the Phenylalanine/Tyrosine Pathway and Related Factors between Keratopathy and No-Keratopathy Groups as Well as between Genders in Alkaptonuria during Nitisinone Treatment

Ranganath, L. R., Milan, A. M., Hughes, A. T., Davison, A. S., Khedr, M., Imrich, R., . . . Gallagher, J. A. (2022). Comparing the Phenylalanine/Tyrosine Pathway and Related Factors between Keratopathy and No-Keratopathy Groups as Well as between Genders in Alkaptonuria during Nitisinone Treatment. METABOLITES, 12(8). doi:10.3390/metabo12080772

DOI
10.3390/metabo12080772
Journal article

Temporal adaptations in the phenylalanine/tyrosine pathway and related factors during nitisinone-induced tyrosinaemia in alkaptonuria.

Ranganath, L. R., Hughes, A. T., Davison, A. S., Khedr, M., Olsson, B., Rudebeck, M., . . . Milan, A. M. (2022). Temporal adaptations in the phenylalanine/tyrosine pathway and related factors during nitisinone-induced tyrosinaemia in alkaptonuria.. Molecular genetics and metabolism, S1096-7192(22)00325-0. doi:10.1016/j.ymgme.2022.05.006

DOI
10.1016/j.ymgme.2022.05.006
Journal article

Metabolomic analysis of bone resorption in vitro provides new insights into osteoclastic action and reveals novel biomarkers

Norman, B., Dillon, J., Bou-Gharios, G., Ranganath, L., & Gallagher, J. (2022). Metabolomic analysis of bone resorption in vitro provides new insights into osteoclastic action and reveals novel biomarkers. Bone Reports, 16, 101401. doi:10.1016/j.bonr.2022.101401

DOI
10.1016/j.bonr.2022.101401
Journal article

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/

Conference Paper

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/

Conference Paper

2021

2020

DEFINING CANDIDATE PARKINSON’S DISEASE GENES THROUGH THE ANALYSIS OF GENOME-WIDE HOMOZYGOSITY

DOI
10.1101/2020.11.23.20235671
Preprint

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

DOI
10.1016/S2213-8587(20)30228-X
Journal article

Impact of nitisinone treatment and discontinuation on the metabolome of wild type and hereditary tyrosinemia type 1 mice

Colemonts-Vroninks, H., Norman, B. P., Andrew, D., Neuckermans, J., Lionel, M., Anneleen, M., . . . De Kock, J. (2020). Impact of nitisinone treatment and discontinuation on the metabolome of wild type and hereditary tyrosinemia type 1 mice. Journal of Hepatology, 73, S540-S541. doi:10.1016/s0168-8278(20)31554-3

DOI
10.1016/s0168-8278(20)31554-3
Journal article

Innentitelbild: Pigmentierungschemie und radikalbasierter Kollagenabbau bei Alkaptonurie und Arthrose (Angew. Chem. 29/2020)

Chow, W. Y., Norman, B. P., Roberts, N. B., Ranganath, L. R., Teutloff, C., Bittl, R., . . . Oschkinat, H. (2020). Innentitelbild: Pigmentierungschemie und radikalbasierter Kollagenabbau bei Alkaptonurie und Arthrose (Angew. Chem. 29/2020). Angewandte Chemie, 132(29), 11770. doi:10.1002/ange.202005824

DOI
10.1002/ange.202005824
Journal article

Inside Cover: Pigmentation Chemistry and Radical‐Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage (Angew. Chem. Int. Ed. 29/2020)

Chow, W. Y., Norman, B. P., Roberts, N. B., Ranganath, L. R., Teutloff, C., Bittl, R., . . . Oschkinat, H. (2020). Inside Cover: Pigmentation Chemistry and Radical‐Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage (Angew. Chem. Int. Ed. 29/2020). Angewandte Chemie International Edition, 59(29), 11674. doi:10.1002/anie.202005824

DOI
10.1002/anie.202005824
Journal article

Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage

Chow, W. Y., Norman, B. P., Roberts, N. B., Ranganath, L. R., Teutloff, C., Bittl, R., . . . Oschkinat, H. (2020). Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage. ANGEWANDTE CHEMIE-INTERNATIONAL EDITION, 59(29), 11937-11942. doi:10.1002/anie.202000618

DOI
10.1002/anie.202000618
Journal article

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

DOI
10.1002/jimd.12181
Journal article

Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage

Chow, W. Y., Norman, B. P., Roberts, N., Ranganath, L., Teutloff, C., Bittl, R., . . . Oschkinat, H. (2020). Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage. doi:10.26434/chemrxiv.11590950

DOI
10.26434/chemrxiv.11590950
Journal article

Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage

Chow, W. Y., Norman, B., Roberts, N., Ranganath, L., Teutloff, C., Bittl, R., . . . Oschkinat, H. (2020). Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage. doi:10.26434/chemrxiv.11590950.v2

DOI
10.26434/chemrxiv.11590950.v2
Journal article

Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage

Chow, W. Y., Norman, B. P., Roberts, N., Ranganath, L., Teutloff, C., Bittl, R., . . . Oschkinat, H. (2020). Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage. doi:10.26434/chemrxiv.11590950.v1

DOI
10.26434/chemrxiv.11590950.v1
Journal article

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

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

DOI
10.1093/hmg/ddz234
Journal article

Interference of hydroxyphenylpyruvic acid, hydroxyphenyllactic acid and tyrosine on routine serum and urine clinical chemistry assays; implications for biochemical monitoring of patients with alkaptonuria treated with nitisinone

Curtis, S. L., Norman, B. P., Milan, A. M., Gallagher, J. A., Olsson, B., Ranganath, L. R., & Roberts, N. B. (2019). Interference of hydroxyphenylpyruvic acid, hydroxyphenyllactic acid and tyrosine on routine serum and urine clinical chemistry assays; implications for biochemical monitoring of patients with alkaptonuria treated with nitisinone. CLINICAL BIOCHEMISTRY, 71, 24-30. doi:10.1016/j.clinbiochem.2019.06.010

DOI
10.1016/j.clinbiochem.2019.06.010
Journal article

Raman Spectroscopy identifies differences in ochronotic and non-ochronotic cartilage; a potential novel technique for monitoring ochronosis

Taylor, A. M., Jenks, D. D., Kammath, V. D., Norman, B. P., Dillon, J. P., Gallagher, J. A., . . . Kerns, J. G. (2019). Raman Spectroscopy identifies differences in ochronotic and non-ochronotic cartilage; a potential novel technique for monitoring ochronosis. OSTEOARTHRITIS AND CARTILAGE, 27(8), 1244-1251. doi:10.1016/j.joca.2019.04.012

DOI
10.1016/j.joca.2019.04.012
Journal article

EXTRACELLULAR CHEMICAL PROFILING BY LC-QTOF-MS IDENTIFIES NOVEL BONE RESORPTION MARKERS FOR MONITORING PROGRESSION OF OSTEOARTHROPATHY IN THE RARE DISEASE ALKAPTONURIA

Norman, B. P., Dillon, J. P., Wilson, P. J., Davison, A. S., Milan, A. M., Ross, G. R., . . . Gallagher, J. A. (2019). EXTRACELLULAR CHEMICAL PROFILING BY LC-QTOF-MS IDENTIFIES NOVEL BONE RESORPTION MARKERS FOR MONITORING PROGRESSION OF OSTEOARTHROPATHY IN THE RARE DISEASE ALKAPTONURIA. In OSTEOARTHRITIS AND CARTILAGE Vol. 27 (pp. S181-S182). doi:10.1016/j.joca.2019.02.274

DOI
10.1016/j.joca.2019.02.274
Conference Paper

Untargeted extracellular chemical profiling by LC-QTOF-MS identifies novel markers of bone collagen degradation

Norman, B. P., Dillon, J. P., Nzenwa, I., Wilson, P. J., Davison, A. S., Milan, A. M., . . . Gallagher, J. A. (2019). Untargeted extracellular chemical profiling by LC-QTOF-MS identifies novel markers of bone collagen degradation. In INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY Vol. 100 (pp. A29). Retrieved from https://www.webofscience.com/

Conference Paper

2018

Comprehensive targeted LC-QTOF-MS metabolomics identifies novel metabolite changes associated with treatment of the rare bone disease Alkaptonuria

Norman, B., Davison, A., Ross, G., Milan, A., Hughes, A., Roberts, N., . . . Gallagher, J. (2018). Comprehensive targeted LC-QTOF-MS metabolomics identifies novel metabolite changes associated with treatment of the rare bone disease Alkaptonuria. In JOURNAL OF BONE AND MINERAL RESEARCH Vol. 33 (pp. 145). Retrieved from http://gateway.webofknowledge.com/

Conference Paper

Clinical and biochemical assessment of depressive symptoms in patients with Alkaptonuria before and after two years of treatment with nitisinone

Davison, A. S., Harrold, J. A., Hughes, G., Norman, B., Devine, J., Usher, J., . . . Ranganath, L. R. (2018). Clinical and biochemical assessment of depressive symptoms in patients with Alkaptonuria before and after two years of treatment with nitisinone. Molecular Genetics and Metabolism, 125(1-2), 135-143. doi:10.1016/j.ymgme.2018.07.008

DOI
10.1016/j.ymgme.2018.07.008
Journal article

COMBINED LC-QTOF-MS URINE METABOLOMICS AND 18F-NAF PET IMAGING INDICATES NOVEL COMPOUNDS ASSOCIATED WITH SPINE OSTEOARTHROPATHY IN THE RARE DISEASE ALKAPTONURIA

Norman, B. P., Taylor, L. F., Davison, A. S., Milan, A. M., Ross, G. A., Roberts, N. B., . . . Gallagher, J. A. (2018). COMBINED LC-QTOF-MS URINE METABOLOMICS AND 18F-NAF PET IMAGING INDICATES NOVEL COMPOUNDS ASSOCIATED WITH SPINE OSTEOARTHROPATHY IN THE RARE DISEASE ALKAPTONURIA. In OSTEOARTHRITIS AND CARTILAGE Vol. 26 (pp. S170). doi:10.1016/j.joca.2018.02.369

DOI
10.1016/j.joca.2018.02.369
Conference Paper

DISRUPTION OF COLLAGEN TRIPLE HELIX HYDROGEN BONDING IN OCHRONOTIC HUMAN CARTILAGE IN ALKAPTONURIA OBSERVED BY DYNAMIC NUCLEAR POLARISATION-ENHANCED SOLID-STATE NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY

Norman, B. P., Ying, C. W., Sutherland, H., Wilson, P. J., Roberts, N. B., Duer, M. J., . . . Gallagher, J. A. (2018). DISRUPTION OF COLLAGEN TRIPLE HELIX HYDROGEN BONDING IN OCHRONOTIC HUMAN CARTILAGE IN ALKAPTONURIA OBSERVED BY DYNAMIC NUCLEAR POLARISATION-ENHANCED SOLID-STATE NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY. In OSTEOARTHRITIS AND CARTILAGE Vol. 26 (pp. S99). doi:10.1016/j.joca.2018.02.214

DOI
10.1016/j.joca.2018.02.214
Conference Paper

Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment

Davison, A. S., Norman, B., Milan, A. M., Hughes, A. T., Khedr, M., Rovensky, J., . . . Ranganath, L. R. (2018). Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment. JIMD REPORTS: FOCUS ISSUE: ADULTS AND METABOLISM, VOL 41, 41, 1-10. doi:10.1007/8904_2017_72

DOI
10.1007/8904_2017_72
Journal article

2017

Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in <i>PINK1</i>: a case report

Norman, B. P., Lubbe, S. J., Tan, M., Warren, N., & Morris, H. R. (2017). Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in <i>PINK1</i>: a case report. BMC NEUROLOGY, 17. doi:10.1186/s12883-017-0933-z

DOI
10.1186/s12883-017-0933-z
Journal article

URINE METABOLOMICS USING LIQUID CHROMATOGRAPHY QUADRUPOLE TIME-OF-FLIGHT MASS SPECTROMETRY INDICATES COMMON MARKERS OF DISEASE IN ALKAPTONURIA AND IDIOPATHIC OSTEOARTHRITIS IN HUMAN

Norman, B., Davison, A., Wilson, P., Ross, G., Milan, A., Roberts, N., . . . Gallagher, J. (2017). URINE METABOLOMICS USING LIQUID CHROMATOGRAPHY QUADRUPOLE TIME-OF-FLIGHT MASS SPECTROMETRY INDICATES COMMON MARKERS OF DISEASE IN ALKAPTONURIA AND IDIOPATHIC OSTEOARTHRITIS IN HUMAN. In OSTEOARTHRITIS AND CARTILAGE Vol. 25 (pp. S97-S98). doi:10.1016/j.joca.2017.02.156

DOI
10.1016/j.joca.2017.02.156
Conference Paper

2014

Are mobile phone conversations always so annoying? The 'need-to-listen' effect re-visited

Norman, B., & Bennett, D. (2014). Are mobile phone conversations always so annoying? The 'need-to-listen' effect re-visited. BEHAVIOUR & INFORMATION TECHNOLOGY, 33(12), 1294-1305. doi:10.1080/0144929X.2013.876098

DOI
10.1080/0144929X.2013.876098
Journal article

Undated