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Disease on EC 1.13.11.5 - homogentisate 1,2-dioxygenase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Alkaptonuria
A late and difficult diagnosis of ochronosis.
A metabolic cause of spinal deformity.
A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature.
A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria.
A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care.
A quantitative assessment of alkaptonuria : Testing the reliability of two disease severity scoring systems.
A rare case of acquired methemoglobinemia associated with alkaptonuria.
Acute fatal metabolic complications in alkaptonuria.
Alkaptonuria and intramedullary calcification.
Alkaptonuria and lumbar disc herniation. Report of three cases.
Alkaptonuria and ochronosis in three siblings. Ascorbic acid treatment monitored by urinary HGA excretion.
Alkaptonuria and ochronosis: case report and review.
Alkaptonuria and pompe disease in one patient: metabolic and molecular analysis.
Alkaptonuria and renal failure: a case report.
Alkaptonuria in a middle-aged female.
Alkaptonuria in France: past experience and lessons for the future.
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene.
Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.
Alkaptonuria is a novel human secondary amyloidogenic disease.
Alkaptonuria presenting as lumbar disc prolapse: case report and review of literature.
Alkaptonuria, ochronosis, and ochronotic arthropathy.
Alkaptonuria--a review of surgical and autopsy pathology.
Alkaptonuria-an atypical case: multi-modality imaging review.
Alkaptonuria.
Alkaptonuria: a case report.
Alkaptonuria: A case report.
Alkaptonuria: a very rare metabolic disorder.
Alkaptonuric arthropathy with periprosthetic fracture:a case report.
Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review.
Alkaptonuric ochronosis: a clinical study from Ardabil, Iran.
Allelic heterogeneity of alkaptonuria in Central Europe.
Amyloidosis in alkaptonuria.
Amyloidosis, inflammation, and oxidative stress in the heart of an alkaptonuric patient.
An update on molecular genetics of Alkaptonuria (AKU).
Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).
Aortic stenosis in cardiovascular ochronosis.
Arthroscopic diagnosis and treatment of shoulder ochronotic arthropathy - A case report.
Ashy ears.
Bilateral hip arthroplasty for ochronotic arthropathy.
Black-Colored Ligamentum Flavum Due to Alkaptonuria.
Calculi and intracellular ochronosis in the submandibular tissues from a patient with alkaptonuria.
Cementless total knee arthroplasty in ochronotic arthropathy: a case report with a 4-year follow-up.
Cerebro-spinal and renal ochronosis: A rare case report.
Cervical Myelopathy Due to Ochronosis: An Intraoperative Suspicion.
Cervical Spondylotic Myelopathy due to the Ochronotic Arthropathy of the Cervical Spine.
Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse.
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.
Cytoskeleton Aberrations in Alkaptonuric Chondrocytes.
Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria.
Devastating ochronotic arthropathy with successful bilateral hip and knee arthroplasties.
Diagnosis of secondary amyloidosis in alkaptonuria.
Dietary restriction of tyrosine and phenylalanine lowers tyrosinaemia associated with nitisinone therapy of alkaptonuria.
Early detection of alkaptonuria.
Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD).
Endogenous ochronosis.
Evaluation of anti-oxidant treatments in an in vitro model of alkaptonuric ochronosis.
Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model.
Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.
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.
First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria.
Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.
From darkening urine to early diagnosis of alkaptonuria.
Fungal metabolic model for human type I hereditary tyrosinaemia.
Hemolysis in a Patient With Alkaptonuria and Chronic Kidney Failure.
Hereditary ochronosis: hyperpigmented skin overlying cartilaginous structures.
High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
Hip arthroplasty for ochronosis.
Histological and Ultrastructural Characterization of Alkaptonuric Tissues.
Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria.
Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: Implications in alkaptonuria.
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Homogentisic acid affects human osteoblastic functionality by oxidative stress and alteration of the Wnt/?-catenin signaling pathway.
Homogentisic acid induces cytoskeleton and extracellular matrix alteration in alkaptonuric cartilage.
Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria.
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.
Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online.
Impact of chronic kidney disease on the natural history of alkaptonuria.
Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria.
Intraoperative Diagnosis of a Rare Case of Arthropathy - A Case Report and Review of Literature.
Knee osteoarthrosis secondary to ochronosis - clinical case.
Long-term follow-up of bilateral hip and knee arthroplasty secondary to ochronotic arthropathy.
Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy.
Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease.
Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease.
Mechanisms involved in the unbalanced redox homeostasis in osteoblastic cellular model of Alkaptonuria.
Mechanisms of Enhanced Osteoclastogenesis in Alkaptonuria.
Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria.
Minimally invasive endoscopic aortic valve replacement for alkaptonuria-associated severe aortic stenosis: a case report and literature review.
Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.
Molecular defects in alkaptonuria.
Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood.
Molecular docking analysis of nitisinone with homogentisate 1,2 dioxygenase.
Musculoskeletal manifestations of alkaptonuria: A case report and literature review.
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Natural history of alkaptonuria revisited: analyses based on scoring systems.
Natural history of alkaptonuria.
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia.
Nine cases of Alkaptonuria in one family in southern Jordan.
Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice.
Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.
Nuclear medicine techniques in the assessment of alkaptonuria.
Ochronosis and lumbar disc herniation.
Ochronosis of the hip joint: differential diagnosis of inflammatory arthropathy with lytic lesion.
Ochronosis: a report of a case and a review of literature.
Ochronosis: report of two familial cases.
Ochronotic arthritis and ochronotic Achilles tendon rupture in alkaptonuria: A 6 years follow-up case report in China.
Ochronotic arthritis of bilateral knees: a case report.
Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review.
Ochronotic arthropathy: diagnosis and management: a critical review.
Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis.
Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone.
Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.
Ocular ochronosis from alkaptonuria.
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.
Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.
Osteoarthritis? Ochronotic arthritis! : A case study and review of the literature.
Oxidative stress and mechanisms of ochronosis in alkaptonuria.
Presentation of 14 alkaptonuria patients from Turkey.
Rapid detection methods for five HGO gene mutations causing alkaptonuria.
Recent advances in management of alkaptonuria (invited review; best practice article).
Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis.
Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria.
Renal and prostate stones composition in alkaptonuria: a case report.
Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria.
Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry.
Shoulder arthroplasty in alkaptonuric arthropathy: a clinical case report and literature review.
Tendons Involvement in Congenital Metabolic Disorders.
The molecular basis of alkaptonuria.
Three-generational alkaptonuria in a non-consanguineous family.
Toward a generalized computational workflow for exploiting transient pockets as new targets for small molecule stabilizers: Application to the homogentisate 1,2-dioxygenase mutants at the base of rare disease Alkaptonuria.
Transient pockets as mediators of gas molecules routes inside proteins: The case study of dioxygen pathway in homogentisate 1,2-dioxygenase and its implication in Alkaptonuria development.
Two novel mutations in the homogentisate-1,2-dioxygenase gene identified in Chinese Han Child with Alkaptonuria.
Unrecognized ochronosis--a case report.
Use of nitisinone in patients with alkaptonuria.
[A child with dark discoloration of urine]
[Alkaptonuria: a rare cause of urine discoloration. Report of a case in a newborn]
[Alkaptonuria: a rare metabolic disorder. A report of two cases in siblings]
[Black knee-ochronotic alterations in alkaptonuria].
[Black urine or black sclera of the eyes? Consider alkaptonuria].
[Case report of a patient with ochronosis and arthroplasty of the hip and both knees]
[Endogenous ochronosis: a case description]
[First report of alkaptonuria in Peru].
[Important bilateral corneal astigmatism in a case of ocular ochronosis]
[Knee ochronotic arthropathy and arthroscopic findings]
[Ochronotic arthropathy in alkaptonuria. Radiological manifestations and physiopathological signs]
[Ochronotic changes in alkaptonuria: a case report]
Aortic Valve Stenosis
Aortic stenosis in endogenous ochronosis.
Arthritis
Alkaptonuria and intramedullary calcification.
An update on molecular genetics of Alkaptonuria (AKU).
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.
Ochronotic arthritis of bilateral knees: a case report.
Use of nitisinone in patients with alkaptonuria.
Carcinogenesis
Altered Expression of Oxidative Metabolism Related Genes in Cholangiocarcinomas.
Genetic Diseases, Inborn
Alkaptonuria and ochronosis: case report and review.
Alkaptonuria presenting as lumbar disc prolapse: case report and review of literature.
Alkaptonuria.
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.
Cytoskeleton Aberrations in Alkaptonuric Chondrocytes.
Evaluation of anti-oxidant treatments in an in vitro model of alkaptonuric ochronosis.
Renal and prostate stones composition in alkaptonuria: a case report.
[Alkaptonuria: a rare cause of urine discoloration. Report of a case in a newborn]
homogentisate 1,2-dioxygenase deficiency
Dietary restriction of tyrosine and phenylalanine lowers tyrosinaemia associated with nitisinone therapy of alkaptonuria.
Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.
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.
Natural history of alkaptonuria.
Ochronotic arthritis of bilateral knees: a case report.
[Alkaptonuria: a rare metabolic disorder. A report of two cases in siblings]
[Black knee-ochronotic alterations in alkaptonuria].
[Knee ochronotic arthropathy and arthroscopic findings]
[Ochronotic changes in alkaptonuria: a case report]
Joint Diseases
Alkaptonuria in a middle-aged female.
Alkaptonuria in France: past experience and lessons for the future.
Devastating ochronotic arthropathy with successful bilateral hip and knee arthroplasties.
Knee Arthroscopy: A Diagnostic and Therapeutic Tool for Management of Ochronotic Arthropathy.
Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.
Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.
[Knee ochronotic arthropathy and arthroscopic findings]
Metabolic Diseases
Alkaptonuria and lumbar disc herniation. Report of three cases.
Black-Colored Ligamentum Flavum Due to Alkaptonuria.
Cervical Myelopathy Due to Ochronosis: An Intraoperative Suspicion.
Fungal metabolic model for human type I hereditary tyrosinaemia.
Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria.
Knee osteoarthrosis secondary to ochronosis - clinical case.
Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy.
Mechanisms involved in the unbalanced redox homeostasis in osteoblastic cellular model of Alkaptonuria.
Minimally invasive endoscopic aortic valve replacement for alkaptonuria-associated severe aortic stenosis: a case report and literature review.
Ochronosis of the knee with secondary osteoarthritis requiring total knee replacement in a patient with cryptogenic organising pneumonia.
Ochronotic arthritis of bilateral knees: a case report.
Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone.
Oxidative stress and mechanisms of ochronosis in alkaptonuria.
Shoulder arthroplasty in alkaptonuric arthropathy: a clinical case report and literature review.
[A child with dark discoloration of urine]
[Arthroplasty for the treatment of joint degeneration caused by ochronosis in two cases.]
[Important bilateral corneal astigmatism in a case of ocular ochronosis]
[Knee ochronotic arthropathy and arthroscopic findings]
[Ochronotic arthropathy in alkaptonuria. Radiological manifestations and physiopathological signs]
Neoplasms
D-Aminoacid oxidase and homogentisate oxygenase activities in the tumor bearing rats.
Osteoarthritis
Ochronosis: a report of a case and a review of literature.
Tyrosinemias
Tissue distribution of 2-(2-nitro-4-trifluoromethylbenzoyl)cyclohexane-1-3-dione (NTBC): effect on enzymes involved in tyrosine catabolism and relevance to ocular toxicity in the rat.
Urolithiasis
Alkaptonuric Ochronosis.