Disease on EC 2.6.1.13 - ornithine aminotransferase

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DISEASE
TITLE OF PUBLICATION
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arginase deficiency
Biomarkers identified in inborn errors for lysine, arginine, and ornithine.
Blindness
A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.
Crystal structure of human recombinant ornithine aminotransferase.
Expression defect of ornithine aminotransferase gene in gyrate atrophy.
Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics.
Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.
Retrovirus-mediated gene transfer of ornithine-delta-aminotransferase into keratinocytes from gyrate atrophy patients.
Brain Diseases
Effects of inhibition of ornithine aminotransferase on thioacetamide-induced hepatogenic encephalopathy.
Carcinogenesis
[Expression and Bioinformatic Analysis of Ornithine Aminotransferase ?in Non-small Cell Lung Cancer].
Carcinoma
Identification of a yeast artificial chromosome that spans the human papillary renal cell carcinoma-associated t(X;1) breakpoint in Xp11.2.
Proteome of Metastatic Canine Mammary Carcinomas: Similarities to and Differences from Human Breast Cancer (†).
Carcinoma, Hepatocellular
Establishment of a clonal strain of hepatoma cells derived from Morris hepatoma 8999.
Expression mechanism of abnormality of ornithine aminotransferase level in Morris hepatomas.
Imbalance in ornithine metabolism in hepatomas of different growth rates as expressed in behavior of L-ornithine:2-oxoacid aminotransferase (ornithine transaminase, EC 2.6.1.13).
Mechanism of Inactivation of Ornithine Aminotransferase by (1S,3S)-3-Amino-4-(hexafluoropropan-2-ylidenyl)cyclopentane-1-carboxylic Acid.
Studies on the turnover rates of ornithine aminotransferase in Morris hepatoma 44 and host liver.
Suppression of Hepatocellular Carcinoma by Inhibition of Overexpressed Ornithine Aminotransferase.
Carcinoma, Non-Small-Cell Lung
Ornithine aminotransferase promoted the proliferation and metastasis of non-small cell lung cancer via upregulation of miR-21.
Carcinoma, Renal Cell
Identification of a yeast artificial chromosome that spans the human papillary renal cell carcinoma-associated t(X;1) breakpoint in Xp11.2.
Choroideremia
Regional expression of disease-related genes in human and monkey retina.
Colonic Neoplasms
Analysis of differentially expressed genes in human hepatocellular carcinoma using suppression subtractive hybridization.
Dehydration
Water deficit-induced oxidative stress affects artemisinin content and expression of proline metabolic genes in Artemisia annua L.
Endotoxemia
Adaptative response of nitrogen metabolism in early endotoxemia: role of ornithine aminotransferase.
Eye Diseases
A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.
Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.
Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.
Genetic Diseases, Inborn
Crystal structure of human recombinant ornithine aminotransferase.
Gyrate Atrophy
A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.
A deletion in the ornithine aminotransferase gene in gyrate atrophy.
A mouse model of gyrate atrophy of the choroid and retina. Early retinal pigment epithelium damage and progressive retinal degeneration.
A new sensitive and convenient assay of ornithine aminotransferase.
A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.
A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.
A specific enzyme defect in gyrate atrophy.
An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.
Analysis of the human ornithine aminotransferase gene family.
At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.
Bevacizumab for the treatment of intraretinal cystic spaces in a patient with gyrate atrophy of the choroid and retina.
Carbonic anhydrase inhibitor with topical NSAID therapy to manage cystoid macular edema in a case of gyrate atrophy.
Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia.
Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2.
Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina.
Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts.
Correction of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina.
Correction of ornithine-delta-aminotransferase deficiency in a Chinese hamster ovary cell line mediated by retrovirus gene transfer.
Crystal structure of human recombinant ornithine aminotransferase.
Cystoid macular edema secondary to gyrate atrophy in a child treated with sub-tenon injection of triamcinolone acetonide.
Cytotoxic effect of spermine on retinal pigment epithelial cells.
Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria.
Detection of point mutations associated with genetic diseases by an exon scanning technique.
Dietary compliance in ornithine aminotransferase deficiency.
Expression and processing of human ornithine-delta-aminotransferase in Saccharomyces cerevisiae.
Expression defect of ornithine aminotransferase gene in gyrate atrophy.
Expression of human ornithine aminotransferase (OAT) in OAT-deficient Chinese hamster ovary cells and fibroblasts of gyrate atrophy patient.
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
Gene transfer and expression of human ornithine aminotransferase.
Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy.
Gyrate atrophy of the choroid and retina in a 5-year-old girl.
Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine.
Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics.
Gyrate atrophy of the choroid and retina.
Gyrate atrophy of the choroid and retina. A five-year follow-up of creatine supplementation.
Gyrate atrophy of the choroid and retina. Biochemical considerations and experience with an arginine-restricted diet.
Gyrate atrophy of the choroid and retina: assignment of the ornithine aminotransferase structural gene to human chromosome 10 and mouse chromosome 7.
Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6.
Gyrate atrophy of the choroid and retina: decreased ornithine aminotransferase concentration in cultured skin fibroblasts from patients.
Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.
Gyrate atrophy of the choroid and retina: lymphocyte ornithine-delta-aminotransferase activity in different mutations and carriers.
Gyrate atrophy of the retina and choroid is an inborn error of metabolism of ornithine aminotransferase.
Gyrate atrophy of the retina and choroid. Two methods for prenatal diagnosis.
Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients.
Heterogeneity in ornithine cytotoxicity of bovine retinal pigment epithelial cells in primary culture.
Immunocytochemical localization of ornithine aminotransferase in human ocular tissues.
Immunocytochemical localization of ornithine aminotransferase in rat ocular tissues.
Immunohistochemical localization of ornithine aminotransferase in normal rat tissues by Fab'-horseradish peroxidase conjugates.
Induction of arginase II mRNA by nitric oxide using in vitro model of gyrate atrophy of choroid and retina.
Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina.
Inhibition of arginine-glycine amidinotransferase by ornithine. A possible mechanism for the muscular and chorioretinal atrophies in gyrate atrophy of the choroid and retina with hyperornithinemia.
Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.
Mapping of ornithine aminotransferase gene sequences to mouse chromosomes 7, X, and 3.
Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report.
Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.
Molecular basis of ornithine aminotransferase defect in gyrate atrophy.
Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.
Molecular genetics of ornithine aminotransferase defect in gyrate atrophy.
Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.
Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.
Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase.
Ornithine Aminotransferase Deficiency in Differential Diagnosis of Neonatal Hyperammonemia: A Case with a Novel OAT Gene Mutation.
Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
Ornithine aminotransferase distribution in ocular tissues and retinas of cat and mouse.
Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.
Ornithine transport via cationic amino acid transporter-1 is involved in ornithine cytotoxicity in retinal pigment epithelial cells.
Ornithine-delta-aminotransferase expression and ornithine metabolism in cultured epidermal keratinocytes: toward metabolic sink therapy for gyrate atrophy.
Pathology of iridectomy specimens in gyrate atrophy of the retina and choroid.
Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.
Possible role of polyamines in gyrate atrophy.
Prevention of ornithine cytotoxicity by nonpolar side chain amino acids in retinal pigment epithelial cells.
Prevention of ornithine cytotoxicity by proline in human retinal pigment epithelial cells.
Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.
Rapid and efficient molecular analysis of gyrate atrophy using denaturing gradient gel electrophoresis.
Regulation of proline biosynthesis: the inhibition of pyrroline-5-carboxylate synthase activity by ornithine.
Retrovirus-mediated gene transfer of ornithine-delta-aminotransferase into keratinocytes from gyrate atrophy patients.
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.
Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.
The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.
The ornithine aminotransferase gene in gyrate atrophy of the retina: analysis of expression and gross structure of this gene in cultured fibroblasts.
The skipping of constitutive exons in vivo induced by nonsense mutations.
Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.
Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.
[Fuchs' gyrate atrophy and ornithine aminotransferase deficiency]
[Gyrate atrophy of late disclosure]
[Hyperornithinemia and gyrate atrophy: ornithine aminotransferase gene error causing a Finnish disease]
[Molecular cloning of the genes in genetic chorioretinal diseases--positional cloning and the candidate gene approach]
[Vitamin B6 dependency syndrome]
Hepatomegaly
Liver-targeted disruption of Apc in mice activates beta-catenin signaling and leads to hepatocellular carcinomas.
Homocystinuria
[Phaenotypic aspects of hereditary aminoacidopathies (author's transl)]
Huntington Disease
Ornithine aminotransferase in Huntington's disease.
Hyperargininemia
Biomarkers identified in inborn errors for lysine, arginine, and ornithine.
Hyperthyroidism
Role of thyroxine in the postnatal development of rat hepatic tryptophan oxygenase and ornithine aminotransferase.
Infections
Helicobacter pylori in a Korean Isolate Expressed Proteins Differentially in Human Gastric Epithelial Cells.
Interactions of ibuprofen with influenza infection and hyperammonemia in an animal model of Reye's syndrome.
Influenza, Human
Interactions of ibuprofen with influenza infection and hyperammonemia in an animal model of Reye's syndrome.
Liver Neoplasms
Mechanism of Inactivation of Ornithine Aminotransferase by (1S,3S)-3-Amino-4-(hexafluoropropan-2-ylidenyl)cyclopentane-1-carboxylic Acid.
Liver Neoplasms, Experimental
Studies on the turnover rates of ornithine aminotransferase in Morris hepatoma 44 and host liver.
Lung Neoplasms
Ornithine aminotransferase promoted the proliferation and metastasis of non-small cell lung cancer via upregulation of miR-21.
Quantitative proteomic analysis of mitochondrial proteins differentially expressed between small cell lung cancer cells and normal human bronchial epithelial cells.
Lymphoma
Tissue enzyme changes in parabiotic rats with subcutaneous lymphoma or fibrosarcoma.
Metabolic Diseases
Cystoid macular edema secondary to gyrate atrophy in a child treated with sub-tenon injection of triamcinolone acetonide.
Muscular Dystrophies
Serine protease in mice with hereditary muscular dystrophy.
Neoplasm Metastasis
Ornithine aminotransferase promoted the proliferation and metastasis of non-small cell lung cancer via upregulation of miR-21.
Quantitative proteomic analysis of mitochondrial proteins differentially expressed between small cell lung cancer cells and normal human bronchial epithelial cells.
Neoplasms
Accelerated gene transfer through a polysorbitol-based transporter mechanism.
Effect of tumors with different growth rates on enzymes in host liver.
Hypolipidemic drug clofibrate induces hepatic dedifferentiation.
Identification of differentially expressed proteins in spontaneous thymic lymphomas from knockout mice with deletion of p53.
Mapping Metabolic Events in the Cancer Cell Cycle Reveals Arginine Catabolism in the Committed SG2M Phase.
Ornithine aminotransferase activity in lung & mammary tumours.
Ornithine aminotransferase promoted the proliferation and metastasis of non-small cell lung cancer via upregulation of miR-21.
Quantitative proteomic analysis of mitochondrial proteins differentially expressed between small cell lung cancer cells and normal human bronchial epithelial cells.
The effect of lymphoma and other neoplasms on hepatic and plasma enzymes of the host rat.
[Expression and Bioinformatic Analysis of Ornithine Aminotransferase ?in Non-small Cell Lung Cancer].
Neurodegenerative Diseases
Proteome response to ochratoxin A-induced apoptotic cell death in mouse hippocampal HT22 cells.
Non-alcoholic Fatty Liver Disease
New Potential Biomarker Proteins for Alcoholic Liver Disease Identified by a Comparative Proteomics Approach.
ornithine aminotransferase deficiency
A new sensitive and convenient assay of ornithine aminotransferase.
Biomarkers identified in inborn errors for lysine, arginine, and ornithine.
Correction of ornithine-delta-aminotransferase deficiency in a Chinese hamster ovary cell line mediated by retrovirus gene transfer.
Dietary compliance in ornithine aminotransferase deficiency.
Gyrate atrophy of the choroid and retina in a 5-year-old girl.
Gyrate atrophy of the choroid and retina. Biochemical considerations and experience with an arginine-restricted diet.
Hyperornithinaemia and gyrate atrophy of the retina: improvement of vision during treatment with a low-arginine diet.
Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.
Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.
Ornithine Aminotransferase Deficiency in Differential Diagnosis of Neonatal Hyperammonemia: A Case with a Novel OAT Gene Mutation.
Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
Pathology of iridectomy specimens in gyrate atrophy of the retina and choroid.
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.
Sustained oral lysine supplementation in ornithine delta-aminotransferase deficiency.
Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.
[Fuchs' gyrate atrophy and ornithine aminotransferase deficiency]
Renal Insufficiency
Messenger RNA for enzymes of ornithine and polyamine metabolism are selectively underexpressed in kidney of 5/6 nephrectomized rats.
Retinal Degeneration
Dietary compliance in ornithine aminotransferase deficiency.
Gyrate atrophy of the retina and choroid is an inborn error of metabolism of ornithine aminotransferase.
Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.
Pathology of iridectomy specimens in gyrate atrophy of the retina and choroid.
Retinoblastoma
Regulation of ornithine aminotransferase in retinoblastomas.
Sarcoma, Synovial
A synovial sarcoma with a complex t(X;18;5;4) and a break in the ornithine aminotransferase (OAT)L1 cluster on Xp11.2.
Identification of a yeast artificial chromosome that spans the human papillary renal cell carcinoma-associated t(X;1) breakpoint in Xp11.2.
Seizures
Enhanced endogenous ornithine concentrations protect against tonic seizures and coma in acute ammonia intoxication.
Functional significance of the activities of glutaminase and ornithine-?-aminotransferase in rat brain.
Starvation
Effects of cortisol or starvation on the activities of four enzymes in small intestine and liver of the rat during development.
Tuberculosis
Mycobacterium tuberculosis Is a Natural Ornithine Aminotransferase (rocD) Mutant and Depends on Rv2323c for Growth on Arginine.
Vitamin B 6 Deficiency
Effect of pyridoxine deficiency on ornithine aminotransferase in rat kidney and liver.