Juliette H Hughes

Juliette H Hughes
Edge Hill University

PhD

About

13
Publications
1,489
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105
Citations
Additional affiliations
January 2017 - present
University of Liverpool
Position
  • Anatomy demonstrator
Description
  • Part time anatomy demonstrator in the Human Anatomy Resource Centre at the University of Liverpool. The sessions range from medics, anatomists and other health professions.
November 2016 - present
University of Liverpool
Position
  • PhD Student
Description
  • Alkaptonuria is the focus of my PhD. Most of my work involves the mouse models and drug induced tyrosinaemia.
Education
September 2015 - June 2016
September 2012 - June 2015

Publications

Publications (13)
Article
Full-text available
Background: Alkaptonuria (AKU) is caused by homogentisate 1,2-dioxygenase deficiency that leads to homogentisic acid (HGA) accumulation, ochronosis and severe osteoarthropathy. Recently, nitisinone treatment, which blocks HGA formation, has been effective in AKU patients. However, a consequence of nitisinone is elevated tyrosine that can cause ker...
Article
Full-text available
Alkaptonuria is an inherited disease caused by homogentisate 1,2-dioxygenase (HGD) deficiency. Circulating homogentisic acid (HGA) is elevated and deposits in connective tissues as ochronotic pigment. In this study, we aimed to define developmental and adult HGD tissue expression and determine the location and amount of gene activity required to lo...
Article
Alkaptonuria is an ultra-rare autosomal recessive disorder of tyrosine metabolism, whereby the homogentisate 1,2-dioxygenase (HGD) enzyme is deficient, causing an elevation of its substrate homogentisic acid (HGA). Overtime, elevated HGA causes connective tissue ochronosis, leading to a severe and early onset osteoarthropathy. The use of HGD defici...
Article
Full-text available
Metabolomic analyses in alkaptonuria (AKU) have recently revealed alternative pathways in phenylalanine-tyrosine (phe-tyr) metabolism from biotransformation of homogentisic acid (HGA), the active molecule in this disease. The aim of this research was to study the phe-tyr metabolic pathway and whether the metabolites upstream of HGA, increased in ni...
Article
Full-text available
Alkaptonuria (AKU) is characterised by increased circulating homogentisic acid and deposition of ochronotic pigment in collagen-rich connective tissues (ochronosis), stiffening the tissue. This process over many years leads to a painful and severe osteoarthropathy, particularly affecting the cartilage of the spine and large weight bearing joints. E...
Article
Full-text available
Alkaptonuria (AKU) is an inherited disorder of tyrosine metabolism caused by lack of active enzyme homogentisate 1,2-dioxygenase (HGD). The primary consequence of HGD deficiency is increased circulating homogentisic acid (HGA), the main agent in the pathology of AKU disease. Here we report the first metabolomic analysis of AKU homozygous Hgd knocko...
Article
Full-text available
Alkaptonuria (AKU) is caused by homogentisate 1,2-dioxygenase (HGD) deficiency. This study aimed to determine if HGD and other enzymes related to tyrosine metabolism are associated with the location of ochronotic pigment. Liver, kidney, skin, bone, brain, eyes, spleen, intestine, lung, heart, cartilage, and muscle were harvested from 6 AKU BALB/c H...
Article
Background Alkaptonuria is a rare, genetic, multisystem disease characterised by the accumulation of homogentisic acid (HGA). No HGA-lowering therapy has been approved to date. The aim of SONIA 2 was to investigate the efficacy and safety of once-daily nitisinone for reducing HGA excretion in patients with alkaptonuria and to evaluate whether nitis...
Preprint
Full-text available
Background and Purpose: alkaptonuria (AKU) is an inherited disorder of tyrosine metabolism caused by lack of the enzyme homogentisate 1,2-dioxygenase (HGD). The primary biochemical consequence of HGD-deficiency is increased circulating homogentisic acid (HGA), which is central to AKU disease pathology. The aim of this study was to investigate the w...
Article
Background: The clinical effects of alkaptonuria (AKU) is delayed and ageing influences disease progression. Morbidity of AKU is secondary to high circulating homogentisic acid (HGA) and ochronosis. It is not known whether HGA is produced by or processed in the kidney in AKU. Methods: Data from AKU patients from four studies were merged to form...
Article
Full-text available
The original publication of this article contained an incorrect version that did not include some final reviewers' suggestions, was inadvertently received for production and published. The original article has been corrected.
Article
Full-text available
Objective: Nitisinone induced hypertyrosinaemia is a concern in patients with Alkaptonuria (AKU). It has been suggested that this may alter neurotransmitter metabolism, specifically dopamine and serotonin. Herein mass spectrometry imaging (MSI) is used for the direct measurement of 2,4-diphenyl-pyranylium tetrafluoroborate (DPP-TFB) derivatives of...
Article
Full-text available
Purpose: Alkaptonuria (AKU) is a rare autosomal recessive metabolic disease caused by mutations in the gene homogentisate 1,2-dioxygenase enzyme (HGD). Deficiency of HGD leads to an accumulation of homogentisic acid in the blood and tissues. Overtime, HGA is polymerised to form a pigment which deposits into connective tissues, particularly in carti...

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Projects

Projects (2)
Project
aim is to find a mechanism to reduced elevated serum tyrosine linked with nitsinone treatment in alkaptonuria using the mouse model.
Project
To characterize and phenotype a new, conditional mouse model of alkaptonuria (an existing ENU model already exists). To learn more about the pathophysiology of alkaptonuria using mouse models. Use the alkaptonuric mice to investigate therapies, such as drug treatment with nitisinone and enzyme/gene therapies.