Accès ouvert
2026
article
OpenAlex
Dominic A Rutland, Brendan P. Norman, Juliette H. Hughes, Peter J M Wilson et autres
Extreme metabolic phenotypes present unique opportunities to understand the participation of different organs in specific metabolite pathways. One such condition is the inherited metabolic disorder alkaptonuria (AKU), caused by mutations in the gene encoding the homogentisate 1,2-dioxygenase (HGD) enzyme. HGD is expressed …
gb
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Accès ouvert
2025
article
OpenAlex
Brendan P. Norman, J.P. Dillon, S Alkharabsheh, Francoise Congues et autres
Abstract Bone resorption involves dissolution of minerals and enzymatic degradation of bone matrix. The primary enzyme is cathepsin K but other proteases including matrix metalloproteinases are involved. Some cathepsin K cleavage products have been partially identified, including cross-linked telopeptides of type I …
gb, jo, ca
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Accès ouvert
2025
article
OpenAlex
Lee R. Haines, Anna Trett, Clair Rose, Marcos Sterkel et autres
One approach to interrupting the transmission of insect-borne diseases that is successfully used in veterinary medicine is exploiting the ability of antiparasitic drugs to make vertebrate blood toxic for blood-feeding insects. Recent studies have identified 4-hydroxyphenylpyruvate dioxygenase (HPPD), an enzyme of the …
gb, ar, ch
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Accès ouvert
2025
article
OpenAlex
Séamus Coyle, Elinor Chapman, David M. Hughes, J. Baker et autres
BACKGROUND: Accurately recognizing that a person may be dying is central to improving their experience of care at the end-of-life. However, predicting dying is frequently inaccurate and often occurs only hours or a few days before death. METHODS: We performed urinary metabolomics …
gb, dk
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Accès ouvert
2025
article
OpenAlex
Sophie Taylor, Nick Dobbin, Richard Imrich, Jean-Baptiste Arnoux et autres
Purpose To report active and passive hip range of motion (ROM) data for individuals with alkaptonuria (AKU), with consideration for age, sex, and non-AKU comparative data.Materials and Methods Using a cross-sectional study design, 123 patients who had baseline ROM assessed in a …
gb, sk, fr, ca
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Accès ouvert
2024
article
OpenAlex
Juliette H. Hughes, Gemma Charlesworth, Amanda Prior, Claire M. Tierney et autres
Ochronotic pigmentation of connective tissue is the central pathological process in the rare metabolic disease alkaptonuria (AKU). Tissue pigmentation in AKU occurs due to unmetabolised homogentisic acid (HGA) in the circulation, caused by an enzyme deficiency in the liver. Ochronotic pigmentation, derived …
gb
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2024
preprint
OpenAlex
Callum Bruce, Priyanka Meenamkuzhy-Hariharan, Shahdat Hussain, Antonio Eleuteri et autres
Background and Aim: Alkaptonuria (AKU) is a rare metabolic disorder characterised by the accumulation of homogentisic acid (HGA). Deposition of HGA in the aortic valve leading to progressive aortic stenosis is a serious complication. Nitisinone has been shown to improve morbidity and …
gb, sk
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2024
article
OpenAlex
China Bruce, Prashant Hariharan, Shazam Hussain, Antonio Eleuteri et autres
Abstract Background/introduction Alkaptonuria (AKU) is a rare metabolic disorder caused by a defective enzyme, resulting in deposition of unmetabolised homogentisic acid in various connective tissues throughout the body (also termed "ochronosis"). Ochronosis of the aortic valve leading to progressive aortic stenosis is …
gb
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Accès ouvert
2024
preprint
OpenAlex
Juliette H. Hughes, Gemma Charlesworth, Amanda Prior, Claire M. Tierney et autres
1 Abstract Ochronotic pigmentation of connective tissue is the central pathological process in the rare metabolic disease alkaptonuria (AKU). Tissue pigmentation in AKU occurs due to unmetabolized homogentisic acid (HGA) in the circulation, caused by an enzyme deficiency in the liver. Ochronotic …
gb
(code pays fourni par la source)
Accès ouvert
2024
preprint
OpenAlex
Callum Bruce, Priyanka Meenamkuzhy-Hariharan, Shahdat Hussain, Antonio Eleuteri et autres
Background and Aim: Alkaptonuria (AKU) is a rare metabolic disorder characterised by the accumulation of homogentisic acid (HGA). Deposition of HGA in the aortic valve leading to progressive aortic stenosis is a serious complication. Nitisinone has been shown to improve morbidity and …
gb, sk
(code pays fourni par la source)
Accès ouvert
2024
preprint
OpenAlex
Callum Bruce, Priyanka Meenamkuzhy-Hariharan, Shahdat Hussain, Antonio Eleuteri et autres
Background and Purpose: Alkaptonuria (AKU) is a rare metabolic disorder characterised by the accumulation of homogentisic acid (HGA). Deposition of HGA in the aortic valve leading to progressive aortic stenosis is a serious complication. Nitisinone has been shown to improve morbidity and …
gb, sk
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
L. Ranganath, Milad Khedr, Anna M. Milan, Andrew Davison et autres
INTRODUCTION: Protein nutrition disorder in alkaptonuria (AKU), resulting in increased homogentisic acid (HGA) before nitisinone therapy and increased tyrosine (TYR) during nitisinone therapy, may benefit from dietetic intervention. The aim of this study was to characterise the diet and their effects prospectively …
gb, sk
(code pays fourni par la source)