PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 19318352-1 2009 Ornithine carbamoyltransferase (OTC) is a key enzyme in the urea cycle to detoxify ammonium produced from amino acid catabolism. Urea 60-64 ornithine transcarbamylase Homo sapiens 0-30 19343772-1 2009 Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. Urea 63-67 ornithine transcarbamylase Homo sapiens 0-26 19343772-1 2009 Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. Urea 63-67 ornithine transcarbamylase Homo sapiens 28-31 19468698-1 2009 BACKGROUND: Ornithine transcarbamylase (OTC) deficiency is the most frequent innate disorder of the urea cycle and is X-chromosome linked. Urea 100-104 ornithine transcarbamylase Homo sapiens 12-38 19468698-1 2009 BACKGROUND: Ornithine transcarbamylase (OTC) deficiency is the most frequent innate disorder of the urea cycle and is X-chromosome linked. Urea 100-104 ornithine transcarbamylase Homo sapiens 40-43 19318352-1 2009 Ornithine carbamoyltransferase (OTC) is a key enzyme in the urea cycle to detoxify ammonium produced from amino acid catabolism. Urea 60-64 ornithine transcarbamylase Homo sapiens 32-35 18414167-2 2008 Evaluation of the patient revealed a metabolic profile consistent with ornithine transcarbamoylase (OTC) deficiency, an inherited disorder of the urea cycle. Urea 146-150 ornithine transcarbamylase Homo sapiens 71-98 17893704-3 2009 Of all genes showing differential expression, we focused on the ornithine transcarbamylase (OTC) gene on Xp21.1., a key enzyme of the urea cycle which we found to be expressed in AD brains but not in controls, as confirmed by RT-PCR. Urea 134-138 ornithine transcarbamylase Homo sapiens 64-90 17893704-3 2009 Of all genes showing differential expression, we focused on the ornithine transcarbamylase (OTC) gene on Xp21.1., a key enzyme of the urea cycle which we found to be expressed in AD brains but not in controls, as confirmed by RT-PCR. Urea 134-138 ornithine transcarbamylase Homo sapiens 92-95 19205909-1 2009 OBJECTIVE: The ornithine transcarbamylase is a mitochondrial matrix homotrimeric enzyme, whose deficiency is the most common genetic defect of the urea cycle and an X-linked semidominant disorder. Urea 147-151 ornithine transcarbamylase Homo sapiens 15-41 18666241-2 2009 There are five key enzymes in the urea cycle: carbamoyl-phosphate synthetase 1 (CPS1), ornithine transcarbamylase (OTC), argininosuccinate synthetase (ASS1), argininosuccinate lyase (ASL), and arginase 1 (ARG1). Urea 34-38 ornithine transcarbamylase Homo sapiens 87-113 18666241-2 2009 There are five key enzymes in the urea cycle: carbamoyl-phosphate synthetase 1 (CPS1), ornithine transcarbamylase (OTC), argininosuccinate synthetase (ASS1), argininosuccinate lyase (ASL), and arginase 1 (ARG1). Urea 34-38 ornithine transcarbamylase Homo sapiens 115-118 18651132-7 2008 DNA studies revealed a mutation of the urea cycle enzyme, ornithine transcarbamylase. Urea 39-43 ornithine transcarbamylase Homo sapiens 58-84 18343177-1 2008 Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder of the urea cycle. Urea 76-80 ornithine transcarbamylase Homo sapiens 0-26 18414167-2 2008 Evaluation of the patient revealed a metabolic profile consistent with ornithine transcarbamoylase (OTC) deficiency, an inherited disorder of the urea cycle. Urea 146-150 ornithine transcarbamylase Homo sapiens 100-103 17565723-1 2007 Ornithine transcarbamylase (OTC) deficiency is an X-linked, semidominant genetic disorder and the most prevalent inherited defect of the urea cycle. Urea 137-141 ornithine transcarbamylase Homo sapiens 0-26 17680661-8 2008 Further, gene expression of two urea cycle genes, ornithine transcarbamylase and arginase I, were completely absent. Urea 32-36 ornithine transcarbamylase Homo sapiens 50-76 18044746-3 2007 Ornithine transcarbamylase deficiency (OTCD), although rare, is the most common of the urea cycle disorders (UCDs). Urea 87-91 ornithine transcarbamylase Homo sapiens 0-26 17565723-1 2007 Ornithine transcarbamylase (OTC) deficiency is an X-linked, semidominant genetic disorder and the most prevalent inherited defect of the urea cycle. Urea 137-141 ornithine transcarbamylase Homo sapiens 28-31 17613537-1 2007 Ornithine transcarbamylase deficiency (OTCD) is an X-linked inborn defect of metabolism of the urea cycle, which causes hyperamonemia. Urea 95-99 ornithine transcarbamylase Homo sapiens 0-26 17922216-1 2007 Ornithine transcarbamylase deficiency is the commonest urea cycle disorder which is transmitted in X-linked inheritance. Urea 55-59 ornithine transcarbamylase Homo sapiens 0-26 17570074-1 2007 Ornithine transcarbamylase deficiency is an X-linked semidominant trait that is the most frequent inborn error of the urea cycle. Urea 118-122 ornithine transcarbamylase Homo sapiens 0-26 12556295-1 2003 Ornithine transcarbamylase deficiency, an X-linked disorder, is the most common inherited urea cycle defect. Urea 90-94 ornithine transcarbamylase Homo sapiens 0-26 17334707-2 2007 Ornithine transcarbamylase deficiency (OTCD), the X-linked, most frequent urea cycle error, results from mutations in the OTC gene, encoding a 354-residue polypeptide. Urea 74-78 ornithine transcarbamylase Homo sapiens 0-26 17334707-2 2007 Ornithine transcarbamylase deficiency (OTCD), the X-linked, most frequent urea cycle error, results from mutations in the OTC gene, encoding a 354-residue polypeptide. Urea 74-78 ornithine transcarbamylase Homo sapiens 39-42 18204299-1 2007 Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle. Urea 83-87 ornithine transcarbamylase Homo sapiens 0-26 18204299-1 2007 Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of the urea cycle. Urea 83-87 ornithine transcarbamylase Homo sapiens 28-31 17098461-0 2007 Ornithine transcarbamylase and arginase I deficiency are responsible for diminished urea cycle function in the human hepatoblastoma cell line HepG2. Urea 84-88 ornithine transcarbamylase Homo sapiens 0-26 17044854-1 2006 Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a hepatic enzyme involved in ammonia elimination via the urea cycle. Urea 105-109 ornithine transcarbamylase Homo sapiens 0-26 17044854-1 2006 Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a hepatic enzyme involved in ammonia elimination via the urea cycle. Urea 105-109 ornithine transcarbamylase Homo sapiens 28-31 16786505-1 2006 Ornithine transcarbamylase (OTC) deficiency is the most common inherited disorder of the urea cycle and is transmitted as an X-linked trait. Urea 89-93 ornithine transcarbamylase Homo sapiens 0-26 16786505-1 2006 Ornithine transcarbamylase (OTC) deficiency is the most common inherited disorder of the urea cycle and is transmitted as an X-linked trait. Urea 89-93 ornithine transcarbamylase Homo sapiens 28-31 15300856-1 2004 Ornithine transcarbamylase (OTC; EC 2.1.3.3) is an urea cycle enzyme coded by a gene located at Xp21.1. Urea 51-55 ornithine transcarbamylase Homo sapiens 0-26 15300856-1 2004 Ornithine transcarbamylase (OTC; EC 2.1.3.3) is an urea cycle enzyme coded by a gene located at Xp21.1. Urea 51-55 ornithine transcarbamylase Homo sapiens 28-31 12618087-1 2003 Ornithine transcarbamylase (OTC) deficiency, transmitted as an X-linked trait, is the most common disorder of the urea cycle. Urea 114-118 ornithine transcarbamylase Homo sapiens 0-26 12618087-1 2003 Ornithine transcarbamylase (OTC) deficiency, transmitted as an X-linked trait, is the most common disorder of the urea cycle. Urea 114-118 ornithine transcarbamylase Homo sapiens 28-31 12514690-1 2003 Ornithine transcarbamylase deficiency (OTCD) is an X-linked inherited disease and the most common inborn error in urea synthesis in human patients. Urea 114-118 ornithine transcarbamylase Homo sapiens 0-26 10838080-3 2000 The inhibition of iNOS during butyrate treatment significantly increased the urea-synthetic capacity as compared to that of butyrate treatment alone, possibly through the further induction of ornithine transcarbamylase expression. Urea 77-81 ornithine transcarbamylase Homo sapiens 192-218 11276280-1 2001 Ornithine transcarbamylase (OTC) is a mitochondrial-matrix enzyme that catalyzes conversion of ornithine and carbamyl phosphate to citrulline, the second step in the urea cycle. Urea 166-170 ornithine transcarbamylase Homo sapiens 0-26 11276280-1 2001 Ornithine transcarbamylase (OTC) is a mitochondrial-matrix enzyme that catalyzes conversion of ornithine and carbamyl phosphate to citrulline, the second step in the urea cycle. Urea 166-170 ornithine transcarbamylase Homo sapiens 28-31 11148551-3 2001 In the United States most liver transplantations for urea cycle disorders have been restricted to patients with ornithine transcarbamylase deficiency and argininosuccinic aciduria. Urea 53-57 ornithine transcarbamylase Homo sapiens 112-138 11216899-1 2000 UNLABELLED: The ornithine transcarbamylase (OTC) gene is located on the short arm of the X-chromosome and encodes the second enzyme of the urea cycle. Urea 139-143 ornithine transcarbamylase Homo sapiens 16-42 11216899-1 2000 UNLABELLED: The ornithine transcarbamylase (OTC) gene is located on the short arm of the X-chromosome and encodes the second enzyme of the urea cycle. Urea 139-143 ornithine transcarbamylase Homo sapiens 44-47 12788037-0 2003 Ornithine transcarbamylase deficiency: a urea cycle defect. Urea 41-45 ornithine transcarbamylase Homo sapiens 0-26 11388595-1 2001 UNLABELLED: Deficiencies of carbamoylphosphate synthetase or of ornithine transcarbamylase, two urea cycle enzymes located within mitochondria, often present as severe neonatal hyperammonaemic crises and have a poor prognosis. Urea 96-100 ornithine transcarbamylase Homo sapiens 64-90 10946359-1 2000 Ornithine transcarbamylase (OTC) deficiency, a partially dominant X-linked disorder, is the most common inherited defect of the urea cycle. Urea 128-132 ornithine transcarbamylase Homo sapiens 0-26 10946359-1 2000 Ornithine transcarbamylase (OTC) deficiency, a partially dominant X-linked disorder, is the most common inherited defect of the urea cycle. Urea 128-132 ornithine transcarbamylase Homo sapiens 28-31 10541323-1 1999 We report effects of gene transfer and liver transplantation on urea synthesis in ornithine transcarbamylase deficiency (OTCD). Urea 64-68 ornithine transcarbamylase Homo sapiens 82-108 9609999-1 1998 Ornithine transcarbamylase (OTC) is located in the mitochondrial matrix of the liver and small intestine and catalyzes the second step of the urea cycle. Urea 142-146 ornithine transcarbamylase Homo sapiens 0-26 9609999-1 1998 Ornithine transcarbamylase (OTC) is located in the mitochondrial matrix of the liver and small intestine and catalyzes the second step of the urea cycle. Urea 142-146 ornithine transcarbamylase Homo sapiens 28-31 9346466-1 1997 Ornithine Transcarbamylase (OTC) is a key urea cycle enzyme. Urea 42-46 ornithine transcarbamylase Homo sapiens 0-26 9346466-1 1997 Ornithine Transcarbamylase (OTC) is a key urea cycle enzyme. Urea 42-46 ornithine transcarbamylase Homo sapiens 28-31 9018015-1 1997 Ornithine transcarbamylase (OTC) deficiency is an X-linked inherited disease and the most common inborn error in urea synthesis in humans. Urea 113-117 ornithine transcarbamylase Homo sapiens 28-31 9018015-1 1997 Ornithine transcarbamylase (OTC) deficiency is an X-linked inherited disease and the most common inborn error in urea synthesis in humans. Urea 113-117 ornithine transcarbamylase Homo sapiens 0-26 7479595-1 1995 Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder of the urea cycle mapped to chromosome Xp21.1. Urea 75-79 ornithine transcarbamylase Homo sapiens 0-26 8566955-1 1996 Ornithine transcarbamylase (OTC) deficiency, the most common inborn error of the urea cycle, shows X-linked inheritance with frequent new mutations. Urea 81-85 ornithine transcarbamylase Homo sapiens 0-26 9064003-1 1996 Ornithine transcarbamylase (OTC) is a hepatic mitochondrial enzyme involved in the detoxification of ammonia by the urea cycle. Urea 116-120 ornithine transcarbamylase Homo sapiens 0-26 9064003-1 1996 Ornithine transcarbamylase (OTC) is a hepatic mitochondrial enzyme involved in the detoxification of ammonia by the urea cycle. Urea 116-120 ornithine transcarbamylase Homo sapiens 28-31 7499756-1 1995 Ornithine transcarbamylase deficiency is an X-linked recessive disorder of urea biosynthesis characterized by recurrent, often fatal, hyperammonemic encephalopathy in affected males; carrier females are usually asymptomatic. Urea 75-79 ornithine transcarbamylase Homo sapiens 0-26 7479595-1 1995 Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder of the urea cycle mapped to chromosome Xp21.1. Urea 75-79 ornithine transcarbamylase Homo sapiens 28-31 7797025-1 1995 Ornithine transcarbamylase deficiency is an X-linked disorder of the urea cycle that can cause hyperammonemic encephalopathy in hemizygous males and heterozygous females. Urea 69-73 ornithine transcarbamylase Homo sapiens 0-26 8193671-2 1993 High activity of ornithine transcarbamylase (OTC), a hepatic urea cycle enzyme, was detected in these cell lines. Urea 61-65 ornithine transcarbamylase Homo sapiens 17-43 7729053-10 1995 This method is applicable to rapid screening for urea cycle disorders and may also be used for carrier testing of ornithine transcarbamylase deficiency. Urea 49-53 ornithine transcarbamylase Homo sapiens 114-140 8282523-1 1993 Ornithine transcarbamylase deficiency (OTCD) is caused by an alteration of urea synthesis, linked with partial modification of the X-chromosome, whose clinical manifestations are: lethargy, nausea, vomiting and cerebral edema. Urea 75-79 ornithine transcarbamylase Homo sapiens 0-26 8193671-2 1993 High activity of ornithine transcarbamylase (OTC), a hepatic urea cycle enzyme, was detected in these cell lines. Urea 61-65 ornithine transcarbamylase Homo sapiens 45-48 1353535-1 1992 Ornithine transcarbamylase (OTC) deficiency is a frequent X linked disorder of the urea cycle which is responsible for lethal neonatal hyperammonaemia in males and for various clinical symptoms in heterozygous females. Urea 83-87 ornithine transcarbamylase Homo sapiens 0-26 1353535-1 1992 Ornithine transcarbamylase (OTC) deficiency is a frequent X linked disorder of the urea cycle which is responsible for lethal neonatal hyperammonaemia in males and for various clinical symptoms in heterozygous females. Urea 83-87 ornithine transcarbamylase Homo sapiens 28-31 1549234-1 1992 Ornithine transcarbamylase is a mitochondrial urea cycle enzyme. Urea 46-50 ornithine transcarbamylase Homo sapiens 0-26 34958254-1 2021 INTRODUCTION: Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder, inherited in an X-linked manner. Urea 77-81 ornithine transcarbamylase Homo sapiens 14-40 1782015-5 1991 This study suggests that, if only mitochondrial OCTase is active in the urea cycle, the decreases in functional enzyme found in Reye"s Syndrome may be considerably greater than that reflected in total enzyme assays. Urea 72-76 ornithine transcarbamylase Homo sapiens 48-54 2035531-1 1991 Ornithine transcarbamylase (OTC) is an X-linked, liver-specific enzyme that catalyzes the second step of the urea cycle. Urea 109-113 ornithine transcarbamylase Homo sapiens 0-26 2035531-1 1991 Ornithine transcarbamylase (OTC) is an X-linked, liver-specific enzyme that catalyzes the second step of the urea cycle. Urea 109-113 ornithine transcarbamylase Homo sapiens 28-31 1806371-1 1991 Ornithine transcarbamylase (OTC) is one of 5 enzymes in the detoxification of ammonia to urea, and its deficiency, an X-linked disease, is the most common inborn error of urea genesis in humans. Urea 89-93 ornithine transcarbamylase Homo sapiens 0-26 1806371-1 1991 Ornithine transcarbamylase (OTC) is one of 5 enzymes in the detoxification of ammonia to urea, and its deficiency, an X-linked disease, is the most common inborn error of urea genesis in humans. Urea 89-93 ornithine transcarbamylase Homo sapiens 28-31 1979899-1 1990 Ornithine transcarbamylase (OTC) (EC 2.1.3.3) is an hepatic mitochondrial enzyme involved in the detoxication of ammonia; it catalyzes the second step of the urea cycle, and is X-linked in human beings. Urea 158-162 ornithine transcarbamylase Homo sapiens 0-26 1979899-1 1990 Ornithine transcarbamylase (OTC) (EC 2.1.3.3) is an hepatic mitochondrial enzyme involved in the detoxication of ammonia; it catalyzes the second step of the urea cycle, and is X-linked in human beings. Urea 158-162 ornithine transcarbamylase Homo sapiens 28-31 2304462-1 1990 The gene for ornithine transcarbamylase (OTC; EC 2.1.3.3), a urea cycle enzyme, is expressed almost exclusively in the liver and small intestine. Urea 61-65 ornithine transcarbamylase Homo sapiens 13-39 2304462-1 1990 The gene for ornithine transcarbamylase (OTC; EC 2.1.3.3), a urea cycle enzyme, is expressed almost exclusively in the liver and small intestine. Urea 61-65 ornithine transcarbamylase Homo sapiens 41-44 34958254-1 2021 INTRODUCTION: Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle disorder, inherited in an X-linked manner. Urea 77-81 ornithine transcarbamylase Homo sapiens 42-45 34726276-1 2022 Ornithine Transcarbamylase (OTC) is an enzyme of the urea cycle, which converts ammonia into urea in the liver cells. Urea 53-57 ornithine transcarbamylase Homo sapiens 0-26 34987927-1 2021 Ornithine transcarbamylase (OTC) deficiency is an incredibly rare disease in the subgroup of urea cycle disorders. Urea 93-97 ornithine transcarbamylase Homo sapiens 0-26 34987927-1 2021 Ornithine transcarbamylase (OTC) deficiency is an incredibly rare disease in the subgroup of urea cycle disorders. Urea 93-97 ornithine transcarbamylase Homo sapiens 28-31 34726276-1 2022 Ornithine Transcarbamylase (OTC) is an enzyme of the urea cycle, which converts ammonia into urea in the liver cells. Urea 53-57 ornithine transcarbamylase Homo sapiens 28-31 34726276-1 2022 Ornithine Transcarbamylase (OTC) is an enzyme of the urea cycle, which converts ammonia into urea in the liver cells. Urea 93-97 ornithine transcarbamylase Homo sapiens 0-26 34726276-1 2022 Ornithine Transcarbamylase (OTC) is an enzyme of the urea cycle, which converts ammonia into urea in the liver cells. Urea 93-97 ornithine transcarbamylase Homo sapiens 28-31 34670952-5 2022 In silico analysis revealed a possible differential affinity between wild-type and mutant OTCase, while Arg92Gln decreases the binding ability of OTCase to the substrate, which can disrupt the urea cycle and explains the molecular pathogenicity of clinical hyperammonemia. Urea 193-197 ornithine transcarbamylase Homo sapiens 90-96 34670952-5 2022 In silico analysis revealed a possible differential affinity between wild-type and mutant OTCase, while Arg92Gln decreases the binding ability of OTCase to the substrate, which can disrupt the urea cycle and explains the molecular pathogenicity of clinical hyperammonemia. Urea 193-197 ornithine transcarbamylase Homo sapiens 146-152 3826955-1 1987 Deficiency of ornithine transcarbamylase, an enzyme in the urea cycle, results in hyperammonemia. Urea 59-63 ornithine transcarbamylase Homo sapiens 14-40 35087131-5 2022 We apply this approach to improve the potency of ornithine transcarbamylase (OTC), a urea cycle enzyme for which loss of catalytic activity causes a rare but serious metabolic disease. Urea 85-89 ornithine transcarbamylase Homo sapiens 49-75 35087131-5 2022 We apply this approach to improve the potency of ornithine transcarbamylase (OTC), a urea cycle enzyme for which loss of catalytic activity causes a rare but serious metabolic disease. Urea 85-89 ornithine transcarbamylase Homo sapiens 77-80 2556444-1 1989 Ornithine transcarbamylase (OTC) is an important enzyme in the detoxification of ammonia to urea, and its deficiency is the most common inborn error of ureagenesis in humans. Urea 92-96 ornithine transcarbamylase Homo sapiens 0-26 2556444-1 1989 Ornithine transcarbamylase (OTC) is an important enzyme in the detoxification of ammonia to urea, and its deficiency is the most common inborn error of ureagenesis in humans. Urea 92-96 ornithine transcarbamylase Homo sapiens 28-31 34658931-4 2021 In mammals, mainly two organs express OTC: the liver, where it is an integral part of the urea cycle, and the intestine, where it synthesizes citrulline for export and plays a major role in amino acid homeostasis, particularly of L-glutamine and L-arginine. Urea 90-94 ornithine transcarbamylase Homo sapiens 38-41 34658931-5 2021 Here, we give an overview on OTC genes and proteins, their tissue distribution, regulation, and physiological function, emphasizing the importance of OTC and urea cycle enzymes for metabolic regulation in human health and disease. Urea 158-162 ornithine transcarbamylase Homo sapiens 29-32 35605046-8 2022 Under normal demand on urea cycle function, OTC expression in hemizygous males, although reduced, is sufficient to meet the demand for waste nitrogen excretion. Urea 23-27 ornithine transcarbamylase Homo sapiens 44-47 35605046-9 2022 However, in response to severe metabolic stress with attendant increased requirements on urea cycle function, the impaired promoter function results in inadequate OTC expression with resultant hyperammonemia. Urea 89-93 ornithine transcarbamylase Homo sapiens 163-166 35204506-1 2022 Ornithine transcarbamylase (OTC) deficiency is the most common inherited metabolic disorder in urea cycles with an incidence of 1:14,000 live births. Urea 95-99 ornithine transcarbamylase Homo sapiens 0-26 35204506-1 2022 Ornithine transcarbamylase (OTC) deficiency is the most common inherited metabolic disorder in urea cycles with an incidence of 1:14,000 live births. Urea 95-99 ornithine transcarbamylase Homo sapiens 28-31 2471197-1 1989 Ornithine transcarbamylase (ornithine carbamoyltransferase; carbamoyl-phosphate:L-ornithine carbamoyltransferase, EC 2.1.3.3) is a mitochondrial matrix enzyme of the mammalian urea cycle. Urea 176-180 ornithine transcarbamylase Homo sapiens 0-26 2471197-1 1989 Ornithine transcarbamylase (ornithine carbamoyltransferase; carbamoyl-phosphate:L-ornithine carbamoyltransferase, EC 2.1.3.3) is a mitochondrial matrix enzyme of the mammalian urea cycle. Urea 176-180 ornithine transcarbamylase Homo sapiens 28-58 2471197-1 1989 Ornithine transcarbamylase (ornithine carbamoyltransferase; carbamoyl-phosphate:L-ornithine carbamoyltransferase, EC 2.1.3.3) is a mitochondrial matrix enzyme of the mammalian urea cycle. Urea 176-180 ornithine transcarbamylase Homo sapiens 82-112 2823712-1 1987 Of the two mitochondrial enzymes of the urea cycle, carbamoyl phosphate synthetase (CPS) was and ornithine transcarbamylase (OTC) was not inactivated by the Fe3+-oxygen-ascorbate model system for mixed-function oxidation [R. L. Levine, (1983) J. Biol. Urea 40-44 ornithine transcarbamylase Homo sapiens 97-123 3011788-1 1986 Ornithine transcarbamylase (OTCase) is a mitochondrial matrix enzyme that catalyzes the 2nd step in the mammalian urea cycle. Urea 114-118 ornithine transcarbamylase Homo sapiens 0-26 3011788-1 1986 Ornithine transcarbamylase (OTCase) is a mitochondrial matrix enzyme that catalyzes the 2nd step in the mammalian urea cycle. Urea 114-118 ornithine transcarbamylase Homo sapiens 28-34 3004207-1 1986 Ornithine transcarbamylase (OTC) (E.C.2.1.3.3) is an X-linked hepatic enzyme in the urea cycle necessary for ammonia detoxification. Urea 84-88 ornithine transcarbamylase Homo sapiens 0-26 3004207-1 1986 Ornithine transcarbamylase (OTC) (E.C.2.1.3.3) is an X-linked hepatic enzyme in the urea cycle necessary for ammonia detoxification. Urea 84-88 ornithine transcarbamylase Homo sapiens 28-31 6873274-2 1983 Ornithine transcarbamylase (OCT) is one of the urea-cycle enzymes in mitochondria which is involved in metabolic disorders in man. Urea 47-51 ornithine transcarbamylase Homo sapiens 0-26 7087958-3 1982 The kinetic parameters of the urea cycle enzymes are the same in fetal liver as in adult liver, except that the Km values of ornithine carbamoyltransferase for L-ornithine are 3.5 mM and 0.42 mM in the fetus and in adult liver, respectively. Urea 30-34 ornithine transcarbamylase Homo sapiens 125-155 337792-2 1977 The urea cycle consist of five enzymatically controlled steps that are catalyzed by carbamyl phosphate synthetase, ornithine transcarbamylase, argininosuccinate synthetase, argininosuccinase, and arginase, respectively. Urea 4-8 ornithine transcarbamylase Homo sapiens 115-141 7383744-1 1980 The urea-synthesizing enzymes of human liver tissues, namely, carbamylphosphate synthetase (CPS, EC 2.7.2.2), ornithine transcarbamylase (OTC, EC 2.1.3.3), arginine synthetase system, argininosuccinase (ASase, EC 4.3.2.1), and arginase (EC 3.5.3.1) were measured between pre- and postnatal periods. Urea 4-8 ornithine transcarbamylase Homo sapiens 138-141 1250313-1 1976 Assay of urea-cycle enzymes in liver tissue showed ornithine transcarbamylase activities of 18 to 72 per cent of the normal mean in eight patients with Reye"s syndrome, below the range of normal in seven of eight, and, in six cases, as low as those in females with X-linked deficiency of this enzyme. Urea 9-13 ornithine transcarbamylase Homo sapiens 51-77 34059532-1 2021 In this report, we describe the diagnosis, investigation and management of a patient presenting with refractory status epilepticus secondary to a previously unrecognised urea cycle defect, ornithine transcarbamylase deficiency, causing a hyperammonaemic encephalopathy. Urea 170-174 ornithine transcarbamylase Homo sapiens 189-215 34035022-1 2021 Ornithine transcarbamylase (OTC) deficiency is a genetic disorder of the urea cycle characterised by deficiency in the enzyme OTC, resulting in an accumulation of ammonia. Urea 73-77 ornithine transcarbamylase Homo sapiens 0-26 32828733-1 2020 INTRODUCTION: Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. Urea 78-82 ornithine transcarbamylase Homo sapiens 14-40 33551825-2 2020 Three of the mammalian urea cycle enzymes: N-acetylglutamate synthase (NAGS), carbamylphosphate synthetase 1 (CPS1), and ornithine transcarbamylase (OTC) reside in the mitochondria. Urea 23-27 ornithine transcarbamylase Homo sapiens 121-147 33551825-2 2020 Three of the mammalian urea cycle enzymes: N-acetylglutamate synthase (NAGS), carbamylphosphate synthetase 1 (CPS1), and ornithine transcarbamylase (OTC) reside in the mitochondria. Urea 23-27 ornithine transcarbamylase Homo sapiens 149-152 32949613-9 2021 Co-mapped transcriptomics and proteomics data showed that co-exposure to phthalates and heavy metals leads to perturbations of the urea cycle due to differential expression levels of arginase-1 and -2, argininosuccinate synthase, carbamoyl-phosphate synthase, ornithine carbamoyltransferase, and argininosuccinate lyase. Urea 131-135 ornithine transcarbamylase Homo sapiens 230-290 34015158-2 2021 We explored the impact of apparently neutral common polymorphisms, using the gene encoding the urea cycle enzyme, ornithine transcarbamylase (OTC), as a model system. Urea 95-99 ornithine transcarbamylase Homo sapiens 114-140 34015158-2 2021 We explored the impact of apparently neutral common polymorphisms, using the gene encoding the urea cycle enzyme, ornithine transcarbamylase (OTC), as a model system. Urea 95-99 ornithine transcarbamylase Homo sapiens 142-145 32410394-1 2020 BACKGROUND: The urea cycle plays a key role in preventing the accumulation of toxic nitrogenous waste products, including two essential enzymes: ornithine transcarbamylase (OTC) and argininosuccinate lyase (ASL). Urea 16-20 ornithine transcarbamylase Homo sapiens 145-171 32995020-1 2020 Background: Ornithine transcarbamylase is an enzyme of the urea cycle, which produces urea from ammonia. Urea 59-63 ornithine transcarbamylase Homo sapiens 12-38 32995020-1 2020 Background: Ornithine transcarbamylase is an enzyme of the urea cycle, which produces urea from ammonia. Urea 86-90 ornithine transcarbamylase Homo sapiens 12-38 32793520-1 2020 Background: Ornithine transcarbamylase deficiency (OTCD) is an X- linked recessive disorder and the most common error of the urea cycle, caused by the mutations in the OTC gene. Urea 125-129 ornithine transcarbamylase Homo sapiens 51-54 32410394-1 2020 BACKGROUND: The urea cycle plays a key role in preventing the accumulation of toxic nitrogenous waste products, including two essential enzymes: ornithine transcarbamylase (OTC) and argininosuccinate lyase (ASL). Urea 16-20 ornithine transcarbamylase Homo sapiens 173-176 31177541-7 2019 The abundance of carbamoylphosphate synthetase 1 and ornithine transcarbamylase mRNA increased in hepatocytes treated with AICAR, which supports a role for AMPK signaling in regulation of the urea cycle. Urea 192-196 ornithine transcarbamylase Homo sapiens 53-79 31891865-3 2020 Ornithine transcarbamylase is a zinc enzyme involved in the urea cycle. Urea 60-64 ornithine transcarbamylase Homo sapiens 0-26 31784108-6 2019 Hepatocyte-intrinsic IFNAR1 repressed the transcription of metabolic genes, including Otc and Ass1, which encode urea cycle enzymes. Urea 113-117 ornithine transcarbamylase Homo sapiens 86-89 27447480-1 2019 One of the X chromosome-linked disorders is ornithine transcarbamylase deficiency in the urea cycle. Urea 89-93 ornithine transcarbamylase Homo sapiens 44-70 30370846-2 2019 These processes involve the use of the ornithine transcarbamoylase (OTC), an enzyme from the urea cycle or the arginine: glycine amidinotransferase (AGAT), an enzyme from the creatine biosynthesis pathway. Urea 93-97 ornithine transcarbamylase Homo sapiens 39-66 30370846-2 2019 These processes involve the use of the ornithine transcarbamoylase (OTC), an enzyme from the urea cycle or the arginine: glycine amidinotransferase (AGAT), an enzyme from the creatine biosynthesis pathway. Urea 93-97 ornithine transcarbamylase Homo sapiens 68-71 30094907-1 2018 Ornithine transcarbamylase deficiency (OTCD) disrupts the metabolic pathway responsible for converting nitrogenous waste to urea, allowing for excretion. Urea 124-128 ornithine transcarbamylase Homo sapiens 0-26 30541480-1 2018 BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. Urea 117-121 ornithine transcarbamylase Homo sapiens 12-38 30541480-1 2018 BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. Urea 117-121 ornithine transcarbamylase Homo sapiens 51-54 30155941-6 2018 One of the resistance mechanisms to arginase treatment is overexpression of argininosuccinate synthetase (ASS1) and ornithine transcarbamylase (OTC), two important enzymes in the urea cycle. Urea 179-183 ornithine transcarbamylase Homo sapiens 116-142 30155941-6 2018 One of the resistance mechanisms to arginase treatment is overexpression of argininosuccinate synthetase (ASS1) and ornithine transcarbamylase (OTC), two important enzymes in the urea cycle. Urea 179-183 ornithine transcarbamylase Homo sapiens 144-147 30108309-1 2018 Tumors deficient in the urea cycle enzymes argininosuccinate synthase-1 (ASS1) and ornithine transcarbamylase (OTC) are unable to synthesize arginine and can be targeted using arginine-deprivation therapy. Urea 24-28 ornithine transcarbamylase Homo sapiens 83-109 30108309-1 2018 Tumors deficient in the urea cycle enzymes argininosuccinate synthase-1 (ASS1) and ornithine transcarbamylase (OTC) are unable to synthesize arginine and can be targeted using arginine-deprivation therapy. Urea 24-28 ornithine transcarbamylase Homo sapiens 111-114 29282796-1 2018 The ornithine transcarbamylase (OTC) gene is on the X chromosome and its product catalyzes the formation of citrulline from ornithine and carbamylphosphate in the urea cycle. Urea 163-167 ornithine transcarbamylase Homo sapiens 4-30 30007405-2 2018 Ornithine transcarbamylase deficiency is the most common of the urea cycle disorders and frequently presents with coma or seizures during hyperammonemia. Urea 64-68 ornithine transcarbamylase Homo sapiens 0-26 29282796-1 2018 The ornithine transcarbamylase (OTC) gene is on the X chromosome and its product catalyzes the formation of citrulline from ornithine and carbamylphosphate in the urea cycle. Urea 163-167 ornithine transcarbamylase Homo sapiens 32-35 27891735-1 2017 Ornithine transcarbamylase deficiency (OTCD) is a urea cycle disorder of X-linked inheritance, affecting the detoxification of excess nitrogen and leading to hyperammonemia (hyper-NH3 ). Urea 50-54 ornithine transcarbamylase Homo sapiens 0-26 28597413-2 2017 One form of urea cycle abnormality is ornithine transcarbamylase (OTC) deficiency. Urea 12-16 ornithine transcarbamylase Homo sapiens 38-64 28597413-2 2017 One form of urea cycle abnormality is ornithine transcarbamylase (OTC) deficiency. Urea 12-16 ornithine transcarbamylase Homo sapiens 66-69 27997078-1 2017 Ornithine transcarbamylase deficiency represents the most common inherited defect of the urea cycle. Urea 89-93 ornithine transcarbamylase Homo sapiens 0-26 26450566-7 2016 Amongst the disorders that can present with acute metabolic decompensation, the urea cycle disorders, specifically ornithine transcarbamylase deficiency, were most common (2.2%), followed by glycogen storage disease type I (1.5%) and maple syrup urine disease (1.1%). Urea 80-84 ornithine transcarbamylase Homo sapiens 115-141 27455801-3 2016 The reduced ability of ammonia detoxification in liver cirrhosis is ascribed to zinc deficiency, because a member of urea cycle, ornithine transcarbamylase is a zinc enzyme. Urea 117-121 ornithine transcarbamylase Homo sapiens 129-155 25683148-3 2015 Hepatocytes have galactokinase (GALK), which metabolizes galactose for gluconeogenesis, and ornithine transcarbamylase (OTC), which converts ornithine to arginine in the urea cycle. Urea 170-174 ornithine transcarbamylase Homo sapiens 92-118 26210451-2 2015 In mammals OTCase is part of the urea cycle. Urea 33-37 ornithine transcarbamylase Homo sapiens 11-17 25683148-3 2015 Hepatocytes have galactokinase (GALK), which metabolizes galactose for gluconeogenesis, and ornithine transcarbamylase (OTC), which converts ornithine to arginine in the urea cycle. Urea 170-174 ornithine transcarbamylase Homo sapiens 120-123 25227973-1 2015 Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder of metabolism of the urea cycle. Urea 90-94 ornithine transcarbamylase Homo sapiens 0-26 26059767-1 2015 Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle. Urea 129-133 ornithine transcarbamylase Homo sapiens 0-26 26059767-1 2015 Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle. Urea 129-133 ornithine transcarbamylase Homo sapiens 28-31 26059767-2 2015 OTC is one of the enzymes common to both the urea cycle and the bacterial arginine biosynthesis pathway; however, the role of OTC has changed over evolution. Urea 45-49 ornithine transcarbamylase Homo sapiens 0-3 26059767-2 2015 OTC is one of the enzymes common to both the urea cycle and the bacterial arginine biosynthesis pathway; however, the role of OTC has changed over evolution. Urea 45-49 ornithine transcarbamylase Homo sapiens 126-129 26059767-3 2015 For animals with a urea cycle, defects in OTC can trigger hyperammonemic episodes that can lead to brain damage and death. Urea 19-23 ornithine transcarbamylase Homo sapiens 42-45 28324312-3 2014 During protein assimilation in our body surplus nitrogen is made, this open nitrogen is altered into urea and expelled out of the body by kidneys, in this cycle OTC helps in the conversion of free toxic nitrogen into urea. Urea 101-105 ornithine transcarbamylase Homo sapiens 161-164 28324312-3 2014 During protein assimilation in our body surplus nitrogen is made, this open nitrogen is altered into urea and expelled out of the body by kidneys, in this cycle OTC helps in the conversion of free toxic nitrogen into urea. Urea 217-221 ornithine transcarbamylase Homo sapiens 161-164 25056436-1 2014 OTC encodes ornithine carbamoyltransferase, mitochondrial matrix enzyme involved in the synthesis of urea. Urea 101-105 ornithine transcarbamylase Homo sapiens 12-42 25759629-1 2014 Ornithine transcarbamylase deficiency (OTCD) is the most common type urea cycle enzyme deficiencies. Urea 69-73 ornithine transcarbamylase Homo sapiens 0-26 24886687-1 2014 BACKGROUND: Orotic aciduria in the presence of hyperammonemia is a key indicator for a defect in the urea cycle, specifically ornithine transcarbamylase (OTC) deficiency. Urea 101-105 ornithine transcarbamylase Homo sapiens 126-152 25039902-2 2014 Decreased excretion of nitrogen in the urea cycle due to deficiency of carbamoyl phosphate synthase I (CPSI), ornithine transcarbamylase (OTC), argininosuccinate synthase (ASS), argininosuccinate lyase (ASL), and N-acetyl glutamate synthase (NAGS) causes hyperammonemia. Urea 39-43 ornithine transcarbamylase Homo sapiens 138-141 27489649-1 2014 INTRODUCTION: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. Urea 97-101 ornithine transcarbamylase Homo sapiens 14-40 27489649-1 2014 INTRODUCTION: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene. Urea 97-101 ornithine transcarbamylase Homo sapiens 169-172 25573644-1 2014 Urea Cycle Disorders ( UCD ) are among the most common genetic diseases of the metabolism and ornithine transcarbamylase deficiency (OTC), an X-linked defect is the most frequent among them. Urea 0-4 ornithine transcarbamylase Homo sapiens 94-120 25573644-1 2014 Urea Cycle Disorders ( UCD ) are among the most common genetic diseases of the metabolism and ornithine transcarbamylase deficiency (OTC), an X-linked defect is the most frequent among them. Urea 0-4 ornithine transcarbamylase Homo sapiens 133-136 24552868-3 2014 The objective of this work was to study mRNA levels and activities of two key Urea Cycle enzymes, Carbamyl Phosphate Synthetase I (CPSI) and Ornithine Transcarbamylase (OTC), after preservation of LMOs in BG35 and ViaSpan and the ability of these tissue slices to detoxify an ammonia overload in a NRS model. Urea 78-82 ornithine transcarbamylase Homo sapiens 141-167 24552868-3 2014 The objective of this work was to study mRNA levels and activities of two key Urea Cycle enzymes, Carbamyl Phosphate Synthetase I (CPSI) and Ornithine Transcarbamylase (OTC), after preservation of LMOs in BG35 and ViaSpan and the ability of these tissue slices to detoxify an ammonia overload in a NRS model. Urea 78-82 ornithine transcarbamylase Homo sapiens 169-172 24122710-0 2014 Ornithine carbamoyltransferase unfolding states in the presence of urea and guanidine hydrochloride. Urea 67-71 ornithine transcarbamylase Homo sapiens 0-30 24122710-2 2014 Our experimental results suggest that ornithine carbamoyltransferase interacts in a completely different way with urea and guanidine hydrochloride. Urea 114-118 ornithine transcarbamylase Homo sapiens 38-68 23278509-1 2013 Ornithine carbamoyltransferase deficiency is the most common inherited defect of the urea cycle. Urea 85-89 ornithine transcarbamylase Homo sapiens 0-30 23829977-1 2013 Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. Urea 63-67 ornithine transcarbamylase Homo sapiens 0-26 24428103-1 2013 Ornithine transcabamylase (OTC) deficiency is the most common and severe form of abnormal urea synthesis. Urea 90-94 ornithine transcarbamylase Homo sapiens 0-25 24428103-1 2013 Ornithine transcabamylase (OTC) deficiency is the most common and severe form of abnormal urea synthesis. Urea 90-94 ornithine transcarbamylase Homo sapiens 27-30 23829977-1 2013 Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. Urea 63-67 ornithine transcarbamylase Homo sapiens 28-31 22054066-2 2012 In this study, we characterize the ornithine transcarbamylase (OTC) mRNA isoforms of the X-linked OTC gene involved in the urea formation in the liver. Urea 123-127 ornithine transcarbamylase Homo sapiens 35-61 22728053-1 2012 Ornithine transcarbamylase (OTC) deficiency is a urea cycle defect with varying frequency and severity of episodes of hyperammonemia. Urea 49-53 ornithine transcarbamylase Homo sapiens 0-26 22728053-1 2012 Ornithine transcarbamylase (OTC) deficiency is a urea cycle defect with varying frequency and severity of episodes of hyperammonemia. Urea 49-53 ornithine transcarbamylase Homo sapiens 28-31 22054066-2 2012 In this study, we characterize the ornithine transcarbamylase (OTC) mRNA isoforms of the X-linked OTC gene involved in the urea formation in the liver. Urea 123-127 ornithine transcarbamylase Homo sapiens 63-66 22054066-2 2012 In this study, we characterize the ornithine transcarbamylase (OTC) mRNA isoforms of the X-linked OTC gene involved in the urea formation in the liver. Urea 123-127 ornithine transcarbamylase Homo sapiens 98-101 20458665-1 2010 Ornithine transcarbamylase (OTC) deficiency is the most common enzymatic deficiency in the urea cycle. Urea 91-95 ornithine transcarbamylase Homo sapiens 0-26 22232626-1 2011 Ornithine transcarbamylase (OTC) deficiency is well known as the most common inherited disorder of the urea cycle, and 1 of the most common causes of hyperammonemia in newborns. Urea 103-107 ornithine transcarbamylase Homo sapiens 0-26 22232626-1 2011 Ornithine transcarbamylase (OTC) deficiency is well known as the most common inherited disorder of the urea cycle, and 1 of the most common causes of hyperammonemia in newborns. Urea 103-107 ornithine transcarbamylase Homo sapiens 28-31 20458665-1 2010 Ornithine transcarbamylase (OTC) deficiency is the most common enzymatic deficiency in the urea cycle. Urea 91-95 ornithine transcarbamylase Homo sapiens 28-31 20459380-7 2010 Inborn errors associated with a deficiency of OTC activity cause mainly urea cycle-related disorders, and lead to hyperammonemic states that may become lethal. Urea 72-76 ornithine transcarbamylase Homo sapiens 46-49 20422467-1 2010 BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is the most common of the urea cycle disorders and results in an accumulation of ammonia and its metabolites. Urea 83-87 ornithine transcarbamylase Homo sapiens 12-38 23926375-1 2010 Ornithine transcarbamylase (OTC) is one of the enzymes involved in the urea cycle. Urea 71-75 ornithine transcarbamylase Homo sapiens 0-26 23926375-1 2010 Ornithine transcarbamylase (OTC) is one of the enzymes involved in the urea cycle. Urea 71-75 ornithine transcarbamylase Homo sapiens 28-31 19574962-2 2009 Our aim was to determine whether hypertension and coronary vasomotion could be associated with polymorphisms within the ornithine transcarbamylase (OTC) gene, located on chromosome X and coding for a key-enzyme of the urea cycle. Urea 218-222 ornithine transcarbamylase Homo sapiens 120-146 20077096-2 2010 Measurement of secondary urinary orotic acid elevation is also an important clinical test for the differential diagnosis of hyperammonemia due to some of the primary disorders of the urea cycle including ornithine transcarbamylase (OTC) deficiency, and the hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome. Urea 183-187 ornithine transcarbamylase Homo sapiens 204-230 19574962-2 2009 Our aim was to determine whether hypertension and coronary vasomotion could be associated with polymorphisms within the ornithine transcarbamylase (OTC) gene, located on chromosome X and coding for a key-enzyme of the urea cycle. Urea 218-222 ornithine transcarbamylase Homo sapiens 148-151