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Alkaptonuria
A late and difficult diagnosis of ochronosis.
Alkaptonuria
A metabolic cause of spinal deformity.
Alkaptonuria
A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature.
Alkaptonuria
A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria.
Alkaptonuria
A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care.
Alkaptonuria
A quantitative assessment of alkaptonuria : Testing the reliability of two disease severity scoring systems.
Alkaptonuria
A rare case of acquired methemoglobinemia associated with alkaptonuria.
Alkaptonuria
Acute fatal metabolic complications in alkaptonuria.
Alkaptonuria
Alkaptonuria and intramedullary calcification.
Alkaptonuria
Alkaptonuria and lumbar disc herniation. Report of three cases.
Alkaptonuria
Alkaptonuria and ochronosis in three siblings. Ascorbic acid treatment monitored by urinary HGA excretion.
Alkaptonuria
Alkaptonuria and ochronosis: case report and review.
Alkaptonuria
Alkaptonuria and pompe disease in one patient: metabolic and molecular analysis.
Alkaptonuria
Alkaptonuria and renal failure: a case report.
Alkaptonuria
Alkaptonuria in a middle-aged female.
Alkaptonuria
Alkaptonuria in France: past experience and lessons for the future.
Alkaptonuria
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene.
Alkaptonuria
Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.
Alkaptonuria
Alkaptonuria is a novel human secondary amyloidogenic disease.
Alkaptonuria
Alkaptonuria presenting as lumbar disc prolapse: case report and review of literature.
Alkaptonuria
Alkaptonuria, ochronosis, and ochronotic arthropathy.
Alkaptonuria
Alkaptonuria--a review of surgical and autopsy pathology.
Alkaptonuria
Alkaptonuria-an atypical case: multi-modality imaging review.
Alkaptonuria
Alkaptonuria.
Alkaptonuria
Alkaptonuria: a case report.
Alkaptonuria
Alkaptonuria: A case report.
Alkaptonuria
Alkaptonuria: a very rare metabolic disorder.
Alkaptonuria
Alkaptonuric arthropathy with periprosthetic fracture:a case report.
Alkaptonuria
Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review.
Alkaptonuria
Alkaptonuric ochronosis: a clinical study from Ardabil, Iran.
Alkaptonuria
Allelic heterogeneity of alkaptonuria in Central Europe.
Alkaptonuria
Amyloidosis in alkaptonuria.
Alkaptonuria
Amyloidosis, inflammation, and oxidative stress in the heart of an alkaptonuric patient.
Alkaptonuria
An update on molecular genetics of Alkaptonuria (AKU).
Alkaptonuria
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).
Alkaptonuria
Aortic stenosis in cardiovascular ochronosis.
Alkaptonuria
Arthroscopic diagnosis and treatment of shoulder ochronotic arthropathy - A case report.
Alkaptonuria
Bilateral hip arthroplasty for ochronotic arthropathy.
Alkaptonuria
Black-Colored Ligamentum Flavum Due to Alkaptonuria.
Alkaptonuria
Calculi and intracellular ochronosis in the submandibular tissues from a patient with alkaptonuria.
Alkaptonuria
Cementless total knee arthroplasty in ochronotic arthropathy: a case report with a 4-year follow-up.
Alkaptonuria
Cerebro-spinal and renal ochronosis: A rare case report.
Alkaptonuria
Cervical Myelopathy Due to Ochronosis: An Intraoperative Suspicion.
Alkaptonuria
Cervical Spondylotic Myelopathy due to the Ochronotic Arthropathy of the Cervical Spine.
Alkaptonuria
Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse.
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.
Alkaptonuria
Cytoskeleton Aberrations in Alkaptonuric Chondrocytes.
Alkaptonuria
Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria.
Alkaptonuria
Devastating ochronotic arthropathy with successful bilateral hip and knee arthroplasties.
Alkaptonuria
Diagnosis of secondary amyloidosis in alkaptonuria.
Alkaptonuria
Dietary restriction of tyrosine and phenylalanine lowers tyrosinaemia associated with nitisinone therapy of alkaptonuria.
Alkaptonuria
Early detection of alkaptonuria.
Alkaptonuria
Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD).
Alkaptonuria
Endogenous ochronosis.
Alkaptonuria
Evaluation of anti-oxidant treatments in an in vitro model of alkaptonuric ochronosis.
Alkaptonuria
Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model.
Alkaptonuria
Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.
Alkaptonuria
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.
Alkaptonuria
First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria.
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.
Alkaptonuria
From darkening urine to early diagnosis of alkaptonuria.
Alkaptonuria
Fungal metabolic model for human type I hereditary tyrosinaemia.
Alkaptonuria
Hemolysis in a Patient With Alkaptonuria and Chronic Kidney Failure.
Alkaptonuria
Hereditary ochronosis: hyperpigmented skin overlying cartilaginous structures.
Alkaptonuria
High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
Alkaptonuria
Hip arthroplasty for ochronosis.
Alkaptonuria
Histological and Ultrastructural Characterization of Alkaptonuric Tissues.
Alkaptonuria
Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria.
Alkaptonuria
Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: Implications in alkaptonuria.
Alkaptonuria
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Alkaptonuria
Homogentisic acid affects human osteoblastic functionality by oxidative stress and alteration of the Wnt/?-catenin signaling pathway.
Alkaptonuria
Homogentisic acid induces cytoskeleton and extracellular matrix alteration in alkaptonuric cartilage.
Alkaptonuria
Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria.
Alkaptonuria
Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.
Alkaptonuria
Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online.
Alkaptonuria
Impact of chronic kidney disease on the natural history of alkaptonuria.
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.
Alkaptonuria
Intraoperative Diagnosis of a Rare Case of Arthropathy - A Case Report and Review of Literature.
Alkaptonuria
Knee osteoarthrosis secondary to ochronosis - clinical case.
Alkaptonuria
Long-term follow-up of bilateral hip and knee arthroplasty secondary to ochronotic arthropathy.
Alkaptonuria
Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy.
Alkaptonuria
Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease.
Alkaptonuria
Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease.
Alkaptonuria
Mechanisms involved in the unbalanced redox homeostasis in osteoblastic cellular model of Alkaptonuria.
Alkaptonuria
Mechanisms of Enhanced Osteoclastogenesis in Alkaptonuria.
Alkaptonuria
Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria.
Alkaptonuria
Minimally invasive endoscopic aortic valve replacement for alkaptonuria-associated severe aortic stenosis: a case report and literature review.
Alkaptonuria
Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.
Alkaptonuria
Molecular defects in alkaptonuria.
Alkaptonuria
Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood.
Alkaptonuria
Molecular docking analysis of nitisinone with homogentisate 1,2 dioxygenase.
Alkaptonuria
Musculoskeletal manifestations of alkaptonuria: A case report and literature review.
Alkaptonuria
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Alkaptonuria
Natural history of alkaptonuria revisited: analyses based on scoring systems.
Alkaptonuria
Natural history of alkaptonuria.
Alkaptonuria
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia.
Alkaptonuria
Nine cases of Alkaptonuria in one family in southern Jordan.
Alkaptonuria
Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice.
Alkaptonuria
Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.
Alkaptonuria
Nuclear medicine techniques in the assessment of alkaptonuria.
Alkaptonuria
Ochronosis and lumbar disc herniation.
Alkaptonuria
Ochronosis of the hip joint: differential diagnosis of inflammatory arthropathy with lytic lesion.
Alkaptonuria
Ochronosis: a report of a case and a review of literature.
Alkaptonuria
Ochronosis: report of two familial cases.
Alkaptonuria
Ochronotic arthritis and ochronotic Achilles tendon rupture in alkaptonuria: A 6 years follow-up case report in China.
Alkaptonuria
Ochronotic arthritis of bilateral knees: a case report.
Alkaptonuria
Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review.
Alkaptonuria
Ochronotic arthropathy: diagnosis and management: a critical review.
Alkaptonuria
Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis.
Alkaptonuria
Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone.
Alkaptonuria
Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.
Alkaptonuria
Ocular ochronosis from alkaptonuria.
Alkaptonuria
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.
Alkaptonuria
Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.
Alkaptonuria
Osteoarthritis? Ochronotic arthritis! : A case study and review of the literature.
Alkaptonuria
Oxidative stress and mechanisms of ochronosis in alkaptonuria.
Alkaptonuria
Presentation of 14 alkaptonuria patients from Turkey.
Alkaptonuria
Rapid detection methods for five HGO gene mutations causing alkaptonuria.
Alkaptonuria
Recent advances in management of alkaptonuria (invited review; best practice article).
Alkaptonuria
Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis.
Alkaptonuria
Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria.
Alkaptonuria
Renal and prostate stones composition in alkaptonuria: a case report.
Alkaptonuria
Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria.
Alkaptonuria
Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry.
Alkaptonuria
Shoulder arthroplasty in alkaptonuric arthropathy: a clinical case report and literature review.
Alkaptonuria
Tendons Involvement in Congenital Metabolic Disorders.
Alkaptonuria
The molecular basis of alkaptonuria.
Alkaptonuria
Three-generational alkaptonuria in a non-consanguineous family.
Alkaptonuria
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.
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.
Alkaptonuria
Two novel mutations in the homogentisate-1,2-dioxygenase gene identified in Chinese Han Child with Alkaptonuria.
Alkaptonuria
Unrecognized ochronosis--a case report.
Alkaptonuria
Use of nitisinone in patients with alkaptonuria.
Alkaptonuria
[A child with dark discoloration of urine]
Alkaptonuria
[Alkaptonuria: a rare cause of urine discoloration. Report of a case in a newborn]
Alkaptonuria
[Alkaptonuria: a rare metabolic disorder. A report of two cases in siblings]
Alkaptonuria
[Black knee-ochronotic alterations in alkaptonuria].
Alkaptonuria
[Black urine or black sclera of the eyes? Consider alkaptonuria].
Alkaptonuria
[Case report of a patient with ochronosis and arthroplasty of the hip and both knees]
Alkaptonuria
[Endogenous ochronosis: a case description]
Alkaptonuria
[First report of alkaptonuria in Peru].
Alkaptonuria
[Important bilateral corneal astigmatism in a case of ocular ochronosis]
Alkaptonuria
[Knee ochronotic arthropathy and arthroscopic findings]
Alkaptonuria
[Ochronotic arthropathy in alkaptonuria. Radiological manifestations and physiopathological signs]
Alkaptonuria
[Ochronotic changes in alkaptonuria: a case report]
Aortic Valve Stenosis
Aortic stenosis in endogenous ochronosis.
Arthritis
Alkaptonuria and intramedullary calcification.
Arthritis
An update on molecular genetics of Alkaptonuria (AKU).
Arthritis
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.
Arthritis
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.
Arthritis
Ochronotic arthritis of bilateral knees: a case report.
Arthritis
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.
Genetic Diseases, Inborn
Alkaptonuria presenting as lumbar disc prolapse: case report and review of literature.
Genetic Diseases, Inborn
Alkaptonuria.
Genetic Diseases, Inborn
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.
Genetic Diseases, Inborn
Cytoskeleton Aberrations in Alkaptonuric Chondrocytes.
Genetic Diseases, Inborn
Evaluation of anti-oxidant treatments in an in vitro model of alkaptonuric ochronosis.
Genetic Diseases, Inborn
Renal and prostate stones composition in alkaptonuria: a case report.
Genetic Diseases, Inborn
[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.
homogentisate 1,2-dioxygenase deficiency
Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.
homogentisate 1,2-dioxygenase deficiency
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.
homogentisate 1,2-dioxygenase deficiency
Natural history of alkaptonuria.
homogentisate 1,2-dioxygenase deficiency
Ochronotic arthritis of bilateral knees: a case report.
homogentisate 1,2-dioxygenase deficiency
[Alkaptonuria: a rare metabolic disorder. A report of two cases in siblings]
homogentisate 1,2-dioxygenase deficiency
[Black knee-ochronotic alterations in alkaptonuria].
homogentisate 1,2-dioxygenase deficiency
[Knee ochronotic arthropathy and arthroscopic findings]
homogentisate 1,2-dioxygenase deficiency
[Ochronotic changes in alkaptonuria: a case report]
Joint Diseases
Alkaptonuria in a middle-aged female.
Joint Diseases
Alkaptonuria in France: past experience and lessons for the future.
Joint Diseases
Devastating ochronotic arthropathy with successful bilateral hip and knee arthroplasties.
Joint Diseases
Knee Arthroscopy: A Diagnostic and Therapeutic Tool for Management of Ochronotic Arthropathy.
Joint Diseases
Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.
Joint Diseases
Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.
Joint Diseases
[Knee ochronotic arthropathy and arthroscopic findings]
Metabolic Diseases
Alkaptonuria and lumbar disc herniation. Report of three cases.
Metabolic Diseases
Black-Colored Ligamentum Flavum Due to Alkaptonuria.
Metabolic Diseases
Cervical Myelopathy Due to Ochronosis: An Intraoperative Suspicion.
Metabolic Diseases
Fungal metabolic model for human type I hereditary tyrosinaemia.
Metabolic Diseases
Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria.
Metabolic Diseases
Knee osteoarthrosis secondary to ochronosis - clinical case.
Metabolic Diseases
Long-term result of arthroplasty in the treatment of a case of ochronotic arthropathy.
Metabolic Diseases
Mechanisms involved in the unbalanced redox homeostasis in osteoblastic cellular model of Alkaptonuria.
Metabolic Diseases
Minimally invasive endoscopic aortic valve replacement for alkaptonuria-associated severe aortic stenosis: a case report and literature review.
Metabolic Diseases
Ochronosis of the knee with secondary osteoarthritis requiring total knee replacement in a patient with cryptogenic organising pneumonia.
Metabolic Diseases
Ochronotic arthritis of bilateral knees: a case report.
Metabolic Diseases
Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone.
Metabolic Diseases
Oxidative stress and mechanisms of ochronosis in alkaptonuria.
Metabolic Diseases
Shoulder arthroplasty in alkaptonuric arthropathy: a clinical case report and literature review.
Metabolic Diseases
[A child with dark discoloration of urine]
Metabolic Diseases
[Arthroplasty for the treatment of joint degeneration caused by ochronosis in two cases.]
Metabolic Diseases
[Important bilateral corneal astigmatism in a case of ocular ochronosis]
Metabolic Diseases
[Knee ochronotic arthropathy and arthroscopic findings]
Metabolic Diseases
[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.
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Granadino, B.; Beltran-Valero de Bernabe, D.; Fernandez-Canon, J.M.; Penalva, M.A.; Rodriguez de Cordoba, S.
The human homogentisate 1,2-dioxygenase (HGO) gene
Genomics
43
115-122
1997
Homo sapiens (Q93099), Homo sapiens
brenda
Hudecova, S.; Strakova, Z.; Krizanova, O.
Purification of the homogentisic acid oxidase from mammalian liver
Int. J. Biochem. Cell Biol.
27
1357-1363
1995
Bos taurus, Oryctolagus cuniculus, Homo sapiens, Mus musculus
brenda
Titus, G.P.; Mueller, H.A.; Burgner, J.; Rodriguez de Cordoba, S.; Penalva, M.A.; Timm, D.E.
Crystal structure of human homogentisate dioxygenase
Nat. Struct. Biol.
7
542-546
2000
Bos taurus, Homo sapiens, Mus musculus
brenda
Veldhuizen, E.J.; Vaillancourt, F.H.; Whiting, C.J.; Hsiao, M.M.; Gingras, G.; Xiao, Y.; Tanguay, R.M.; Boukouvalas, J.; Eltis, L.D.
Steady-state kinetics and inhibition of anaerobically purified human homogentisate 1,2-dioxygenase
Biochem. J.
386
305-314
2005
Homo sapiens
brenda
Borowski, T.; Georgiev, V.; Siegbahn, P.E.
Catalytic reaction mechanism of homogentisate dioxygenase: a hybrid DFT study
J. Am. Chem. Soc.
127
17303-17314
2005
Homo sapiens (Q93099), Homo sapiens
brenda
Grasko, J.M.; Hooper, A.J.; Brown, J.W.; McKnight, C.J.; Burnett, J.R.
A novel missense HGD gene mutation, K57N, in a patient with alkaptonuria
Clin. Chim. Acta
403
254-256
2009
Homo sapiens (Q93099)
brenda
Tinti, L.; Spreafico, A.; Braconi, D.; Millucci, L.; Bernardini, G.; Chellini, F.; Cavallo, G.; Selvi, E.; Galeazzi, M.; Marcolongo, R.; Gallagher, J.A.; Santucci, A.
Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model
J. Cell. Physiol.
225
84-91
2010
Homo sapiens
brenda
Toth, K.; Kiss-Laaszlo, Z.; Lenart, E.; Juhasz, K.; Takacs, K.; Bender, T.; Szabo, J.
Familiar ochronotic arthropathy-caused by a gene mutation traced three hundred years
Joint Bone Spine
77
355-357
2010
Homo sapiens
brenda
Effelsberg, N.; Huegle, T.; Walker, U.
A metabolic cause of spinal deformity
Metab. Clin. Exp.
59
140-143
2010
Homo sapiens
brenda
Laschi, M.; Tinti, L.; Braconi, D.; Millucci, L.; Ghezzi, L.; Amato, L.; Selvi, E.; Spreafico, A.; Bernardini, G.; Santucci, A.
Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria
J. Cell. Physiol.
227
3254-3257
2012
Homo sapiens (Q93099), Homo sapiens
brenda
Al-sbou, M.
Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria
Rheumatol. Int.
32
1741-1746
2012
Homo sapiens (Q93099), Homo sapiens
brenda
Bernini, A.; Galderisi, S.; Spiga, O.; Bernardini, G.; Niccolai, N.; Manetti, F.; Santucci, A.
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
Comput. Biol. Chem.
70
133-141
2017
Homo sapiens (Q93099)
brenda
Bernardini, G.; Laschi, M.; Geminiani, M.; Braconi, D.; Vannuccini, E.; Lupetti, P.; Manetti, F.; Millucci, L.; Santucci, A.
Homogentisate 1,2 dioxygenase is expressed in brain implications in alkaptonuria
J. Inherit. Metab. Dis.
38
807-814
2015
Homo sapiens, Mus musculus
brenda
Zolfaghari, N.
Molecular docking analysis of nitisinone with homogentisate 1,2 dioxygenase
Bioinformation
13
136-139
2017
Homo sapiens (Q93099)
brenda
Bernini, A.; Galderisi, S.; Spiga, O.; Amarabom, C.O.; Santucci, A.
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
Comput. Biol. Chem.
88
107356
2020
Homo sapiens (Q93099)
brenda
Hughes, J.H.; Liu, K.; Plagge, A.; Wilson, P.J.M.; Sutherland, H.; Norman, B.P.; Hughes, A.T.; Keenan, C.M.; Milan, A.M.; Sakai, T.; Ranganath, L.R.; Gallagher, J.A.; Bou-Gharios, G.
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
Hum. Mol. Genet.
28
3928-3939
2019
Homo sapiens (Q93099)
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Sen Gupta, P.S.; Islam, R.N.U.; Banerjee, S.; Nayek, A.; Rana, M.K.; Bandyopadhyay, A.K.
Screening and molecular characterization of lethal mutations of human homogentisate 1,2 dioxigenase
J. Biomol. Struct. Dyn.
39
1661-1671
2021
Homo sapiens (Q93099)
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