Juliette H. Hughes
Institute Of Life Course And Medical Sciences, 6 West Derby Street
Liverpool, ENG L78TX, United Kingdom
Liverpool, ENG L78TX, United Kingdom
Last Updated: 09/26/2026
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Found 12 publications
Specific knockout of kidney homogentisate 1,2-dioxygenase reveals that local metabolism of tyrosine and homogentisic acid is negligible in alkaptonuria.
Journal: Human molecular genetics
Published: January 07, 2026
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty.
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty.
Journal: Molecular genetics and metabolism reports
Published: April 08, 2024
An anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and bone.
Journal: Journal of anatomy
Published: February 28, 2024
Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype.
Journal: Genes
Published: February 15, 2023
Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria.
Journal: Metabolites
Published: September 07, 2022
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.
Journal: JIMD reports
Published: October 09, 2020
Anatomical Distribution of Ochronotic Pigment in Alkaptonuric Mice is Associated with Calcified Cartilage Chondrocytes at Osteochondral Interfaces.
Journal: Calcified tissue international
Published: July 03, 2020
Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial.
Journal: The lancet. Diabetes & endocrinology
Published: March 12, 2020
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.
Journal: Journal of inherited metabolic disease
Published: July 24, 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.
Journal: Human molecular genetics
Published: July 02, 2019
Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria.
Journal: Journal of inherited metabolic disease
Published: May 30, 2019
Showing 1-12 of 12
Last Updated: 09/26/2026