Disease on EC 6.3.4.5 - argininosuccinate synthase

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DISEASE
TITLE OF PUBLICATION
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Adenoma, Liver Cell
Argininosuccinate synthase 1 (ASS1): A marker of unclassified hepatocellular adenoma and high bleeding risk.
Alzheimer Disease
Neuronal and glial coexpression of argininosuccinate synthetase and inducible nitric oxide synthase in Alzheimer disease.
amino-acid n-acetyltransferase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Amyloid Neuropathies, Familial
[Recent advances of the treatment in metabolic disorders]
arginase deficiency
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
argininosuccinate lyase deficiency
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
Complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Prospective treatment of urea cycle disorders.
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
argininosuccinate synthase deficiency
A GC/MS-based metabolomic approach for diagnosing citrin deficiency.
A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency.
A patient with type II citrullinemia who developed refractory complex seizure.
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemia.
Argininosuccinate synthetase deficiency and reye syndrome-like presentation.
Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients.
Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts.
Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant.
Citrullinemia with an atypical presentation: persistent hiccups. Case report.
Citrullinemia, argininosuccinate synthetase deficiency. Repository identification No. GM-1044.
Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency.
Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country.
Effects of glucagon on urinary excretion of urea and on plasma ammonia level in argininosuccinate synthetase deficiency.
Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency.
Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).
Genetic approach to prenatal diagnosis in urea cycle defects.
Impaired T cell function in argininosuccinate synthetase deficiency.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
Incidence and distribution of argininosuccinate synthetase deficiency in human cancers: a method for identifying cancers sensitive to arginine deprivation.
Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.
Letter: The high levels of lysine, homocitrulline, and homoarginine found in argininosuccinate synthetase deficiency.
Letter: The presence of the homoanalogues of substrates of the urea cycle in the presence of argininosuccinate synthetase deficiency.
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor.
Long-term survival of patients with argininosuccinate synthetase deficiency.
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).
Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts.
Molecular definition of bovine argininosuccinate synthetase deficiency.
Neonatal presentation of adult-onset type II citrullinemia.
Neonatal type of argininosuccinate synthetase deficiency. Report of two cases with autopsy findings.
Orthotopic liver transplantation for urea cycle enzyme deficiency.
Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency.
Postpartum "psychosis" in mild argininosuccinate synthetase deficiency.
Pregnancy in a healthy woman with untreated citrullinemia.
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.
Prenatal diagnosis of citrullinemia type 1: A Chinese family with a novel mutation of the ASS1 gene.
Prospective treatment of urea cycle disorders.
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
The Diagnosis and Management of a Female With Mild Citrullinemia and Undetectable Argininosuccinate Synthetase Activity in Fibroblasts.
Transiently reduced activity of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of children with Reye's syndrome.
Urea cycle disorders in Thai infants: a report of 5 cases.
[Argininosuccinate synthetase deficiency]
Argininosuccinic Aciduria
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts.
Complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Prospective treatment of urea cycle disorders.
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Arthritis
Induction of inducible nitric oxide synthase, argininosuccinate synthase, and GTP cyclohydrolase I in arthritic joints of human tumor necrosis factor-alpha transgenic mice.
Bacterial Infections
Inhibition of LPS toxicity by hepatic argininosuccinate synthase (ASS): Novel roles for ASS in innate immune responses to bacterial infection.
Brain Diseases
Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia.
Citrullinemia with an atypical presentation: persistent hiccups. Case report.
Hyperammonaemic encephalopathy in an adult patient with citrin deficiency associated with a novel mutation.
carbamoyl-phosphate synthase (ammonia) deficiency
Increased excretion of N-carbamoyl compounds in patients with urea cycle defects.
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
Prospective treatment of urea cycle disorders.
Carcinogenesis
Aberrant regulation of argininosuccinate synthetase by TNF-alpha in human epithelial ovarian cancer.
Increased expression of argininosuccinate synthetase protein predicts poor prognosis in human gastric cancer.
Carcinoma
Differential expression of argininosuccinate synthetase in serous and non-serous ovarian carcinomas.
Renal cell carcinoma does not express argininosuccinate synthetase and is highly sensitive to arginine deprivation via arginine deiminase.
Carcinoma, Hepatocellular
A randomised phase II study of pegylated arginine deiminase (ADI-PEG 20) in Asian advanced hepatocellular carcinoma patients.
Arginine deiminase augments the chemosensitivity of argininosuccinate synthetase-deficient pancreatic cancer cells to gemcitabine via inhibition of NF-?B signaling.
Arginine deprivation, growth inhibition and tumour cell death: 3. Deficient utilisation of citrulline by malignant cells.
Combined lysosomal protein transmembrane 4 beta-35 and argininosuccinate synthetase expression predicts clinical outcome in hepatocellular carcinoma patients.
Down-regulation of argininosuccinate synthetase is associated with cisplatin resistance in hepatocellular carcinoma cell lines: implications for PEGylated arginine deiminase combination therapy.
Expression of argininosuccinate synthetase in patients with hepatocellular carcinoma.
Expression profile and down-regulation of argininosuccinate synthetase in hepatocellular carcinoma in a transgenic mouse model.
L-Canavanine potentiates the cytotoxicity of doxorubicin and cisplatin in arginine deprived human cancer cells.
Pegylated recombinant human arginase (rhArg-peg5,000mw) inhibits the in vitro and in vivo proliferation of human hepatocellular carcinoma through arginine depletion.
Phase II study of pegylated arginine deiminase for nonresectable and metastatic hepatocellular carcinoma.
Reduced expression of ASS is closely related to clinicopathological features and post-resectional survival of hepatocellular carcinoma.
Regulation of glucocorticoids of arginase and argininosuccinate synthetase in cultured rat hepatoma cells.
Renal cell carcinoma does not express argininosuccinate synthetase and is highly sensitive to arginine deprivation via arginine deiminase.
Targeted cellular metabolism for cancer chemotherapy with recombinant arginine-degrading enzymes.
Targeting Arginine-Dependent Cancers with Arginine-Degrading Enzymes: Opportunities and Challenges.
The Combination of Arginine Deprivation and 5-Fluorouracil Improves Therapeutic Efficacy in Argininosuccinate Synthetase Negative Hepatocellular Carcinoma.
Carcinoma, Neuroendocrine
Argininosuccinate synthetase (ASS) deficiency in high-grade pulmonary neuroendocrine carcinoma: an opportunity for personalized targeted therapy.
Carcinoma, Renal Cell
Renal cell carcinoma does not express argininosuccinate synthetase and is highly sensitive to arginine deprivation via arginine deiminase.
Cataract
Urea cycle enzymes in retina, ciliary body-iris, lens and senile cataracts.
Citrullinemia
A case of citrullinemia with abnormal messenger RNA for argininosuccinate synthetase.
A GC/MS-based metabolomic approach for diagnosing citrin deficiency.
A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency.
A patient with type II citrullinemia who developed refractory complex seizure.
A search for the primary abnormality in adult-onset type II citrullinemia.
Additional mutations in argininosuccinate synthetase causing citrullinemia.
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemia.
Analysis of a splice acceptor site mutation which produces multiple splicing abnormalities in the human argininosuccinate synthetase locus.
Analysis of deletions at the human argininosuccinate synthetase locus.
Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles.
Argininosuccinate synthetase activity in cultured human lymphocytes.
Argininosuccinate synthetase deficiency and reye syndrome-like presentation.
Argininosuccinate synthetase deficiency: mutation analysis in 3 Thai patients.
Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts.
Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis.
Citrulline and Ammonia Accumulating in Citrullinemia Reduces Antioxidant Capacity of Rat Brain In Vitro.
Citrulline and ammonia accumulating in citrullinemia reduces antioxidant capacity of rat brain in vitro.
Citrullinemia presenting as uncontrollable epilepsy.
Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant.
Citrullinemia Type I, Classical Variant. Identification of ASS approximately p.G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: A possible population cluster.
Citrullinemia with an atypical presentation: persistent hiccups. Case report.
Citrullinemia, argininosuccinate synthetase deficiency. Repository identification No. GM-1044.
Citrullinemia: enzymatic evidence for genetic heterogeneity.
Citrullinemia: quantitative deficiency of argininosuccinate synthetase in the liver.
Clearance of amino acids by hemodialysis in argininosuccinate synthetase deficiency.
Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country.
Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation.
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.
Correction of argininosuccinate synthetase (AS) deficiency in a murine model of citrullinemia with recombinant adenovirus carrying human AS cDNA.
CT findings in the infantile form of citrullinemia.
Detection of kinetically abnormal argininosuccinate synthase in neonatal citrullinemia by conversion of citrulline to arginine in intact fibroblasts.
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry.
Effects of glucagon on urinary excretion of urea and on plasma ammonia level in argininosuccinate synthetase deficiency.
Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia.
Elevated plasma concentrations of the endogenous nitric oxide synthase inhibitor asymmetric dimethylarginine in citrullinemia.
Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency).
Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.
General anesthesia in a patient with citrullinemia using Precedex as an adjunct to prevent delayed emergence.
Generation of a mouse model for citrullinemia by targeted disruption of the argininosuccinate synthetase gene.
Genetic approach to prenatal diagnosis in urea cycle defects.
Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue.
Haemopoietic chimaerism: a complication in heterozygote detection tests for inherited defects in cattle.
Headache and neuropsychic disorders in the puerperium: a case report with suspected deficiency of urea cycle enzymes.
Hepatocellular carcinoma in a case of adult-onset type II citrullinemia.
Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia.
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia.
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
Identification of three novel mutations in fourteen patients with citrullinemia type 1.
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.
Impaired T cell function in argininosuccinate synthetase deficiency.
Improved standards for prenatal diagnosis of citrullinemia.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Improving the prenatal diagnosis of citrullinemia using citrulline/ornithine+arginine ratio in amniotic fluid.
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
Incidence and distribution of argininosuccinate synthetase deficiency in human cancers: a method for identifying cancers sensitive to arginine deprivation.
Increased urinary excretion of argininosuccinate in type II citrullinemia.
Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.
Investigation of citrullinemia type I variants by in vitro expression studies.
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.
Letter: The high levels of lysine, homocitrulline, and homoarginine found in argininosuccinate synthetase deficiency.
Letter: The presence of the homoanalogues of substrates of the urea cycle in the presence of argininosuccinate synthetase deficiency.
Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia.
Liver transplantation as treatment for neurological disorders.
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.
Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor.
Long-term survival of patients with argininosuccinate synthetase deficiency.
Messenger RNA coding for argininosuccinate synthetase in citrullinemia.
Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier.
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).
Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs.
Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts.
Molecular definition of bovine argininosuccinate synthetase deficiency.
Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection.
MRI in a case of adult-onset citrullinemia.
Mutation analysis of Korean patients with citrullinemia.
Mutations and DNA diagnoses of classical citrullinemia.
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
Mutations in argininosuccinate synthetase mRNA in Japanese patients, causing classical citrullinemia.
Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.
Neonatal citrullinemia: novel, reversible neuroimaging findings correlated with ammonia level changes.
Neonatal presentation of adult-onset type II citrullinemia.
Neonatal type of argininosuccinate synthetase deficiency. Report of two cases with autopsy findings.
Orthotopic liver transplantation for urea cycle enzyme deficiency.
Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia.
Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult-onset type II citrullinemia.
Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.
Perinatal pathology casebook.
Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency.
Postpartum "psychosis" in mild argininosuccinate synthetase deficiency.
Pregnancy in a healthy woman with untreated citrullinemia.
Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.
Prenatal diagnosis of citrullinemia type 1: A Chinese family with a novel mutation of the ASS1 gene.
Prospective management of a child with neonatal citrullinemia.
Prospective treatment of urea cycle disorders.
Qualitative abnormality of liver argininosuccinate synthetase in a patient with citrullinemia.
Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia.
Recurrent liver failure in a 25-year-old female.
Retroviral-mediated gene therapy for the treatment of citrullinemia. Transfer and expression of argininosuccinate synthetase in human hematopoietic cells.
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.
Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia.
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Studies on liver argininosuccinate synthetase in a patient with citrullinemia and in normal subjects.
The Diagnosis and Management of a Female With Mild Citrullinemia and Undetectable Argininosuccinate Synthetase Activity in Fibroblasts.
The heterogeneous distribution of argininosuccinate synthetase in the liver of type II citrullinemic patients. Its specificity and possible clinical implications.
The human argininosuccinate synthetase locus and citrullinemia.
Toxoplasma gondii lacks the enzymes required for de novo arginine biosynthesis and arginine starvation triggers cyst formation.
Transiently reduced activity of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of children with Reye's syndrome.
Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.
Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation.
Type II citrullinemia associated with neutropenia.
Type II citrullinemia in an elderly patient treated with living related partial liver transplantation.
Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol.
Urea cycle disorders in Thai infants: a report of 5 cases.
Usage of cryptic splice sites in citrullinemia fibroblasts suggests role of polyadenylation in splice-site selection during terminal exon definition.
Variation in argininosuccinate synthetase activity in amniotic fluid cell cultures: implications for prenatal diagnosis of citrullinemia.
[A case of citrullinemia with cluster type distribution of argininosuccinate synthetase in the liver]
[Adult-onset citrullinemia]
[Adult-onset type II citrullinemia in a patient undergoing continuous ambulatory peritoneal dialysis]
[Argininosuccinate synthetase deficiency]
[Recent advances of the treatment in metabolic disorders]
[Severe fulminant form of neonatal citrullinemia. Report of a case]
[The correlation of consciousness level and the concentration of CSF ammonia in a patient with adult-type citrullinemia]
Coma
Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.
Liver transplantation for citrullinaemia improves intellectual function.
Prospective treatment of urea cycle disorders.
Costello Syndrome
Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein.
The hyperthermia-enhanced association between tropoelastin and its 67-KDA chaperone results in better deposition of elastic fibers.
Dementia
Inducible nitric oxide synthase and argininosuccinate synthetase: co-induction in brain tissue of patients with Alzheimer's dementia and following stimulation with beta-amyloid 1-42 in vitro.
Dermatitis, Atopic
Superantigens and adhesins of infant gut commensal Staphylococcus aureus strains and association with subsequent development of atopic eczema.
Dystonia
Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34.
Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.
Dystonia Musculorum Deformans
Linkage analysis in British and French families with idiopathic torsion dystonia.
Linkage analysis with chromosome 9 markers in hereditary essential tremor.
Eczema
Superantigens and adhesins of infant gut commensal Staphylococcus aureus strains and association with subsequent development of atopic eczema.
Endometrial Neoplasms
Argininosuccinate Synthase 1-Deficiency Enhances the Cell Sensitivity to Arginine through Decreased DEPTOR Expression in Endometrial Cancer.
Epilepsy
Decreased glutamine synthetase, increased citrulline-nitric oxide cycle activities, and oxidative stress in different regions of brain in epilepsy rat model.
Fatty Liver
Long-chain fatty acids suppress the induction of urea cycle enzyme genes by glucocorticoid action.
Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier.
Fibrosarcoma
Cumulative influence of elastin peptides and plasminogen on matrix metalloproteinase activation and type I collagen invasion by HT-1080 fibrosarcoma cells.
fructose-bisphosphatase deficiency
Inherited metabolic disorders in Thailand.
Genetic Diseases, Inborn
Identification of three novel mutations in fourteen patients with citrullinemia type 1.
Retroviral-mediated gene therapy for the treatment of citrullinemia. Transfer and expression of argininosuccinate synthetase in human hematopoietic cells.
Usage of cryptic splice sites in citrullinemia fibroblasts suggests role of polyadenylation in splice-site selection during terminal exon definition.
Glioblastoma
Epigenetic status of argininosuccinate synthetase and argininosuccinate lyase modulates autophagy and cell death in glioblastoma.
Glioma
Presence of argininosuccinate synthetase in glial cells as revealed by peptide-specific antisera.
Hemangiosarcoma
Novel pathways and molecular targets for the treatment of sarcoma.
Hepatic Encephalopathy
Liver transplantation as treatment for neurological disorders.
[Anesthetic management for a patient with citrullinemia and liver cirrhosis]
Hepatitis C, Chronic
[Serum argininosuccinate synthetase (ASS) in patients with chronic hepatitis C treated with interferon]
Herpes Simplex
Argininosuccinate synthetase 1 depletion produces a metabolic state conducive to herpes simplex virus 1 infection.
Homocystinuria
Inherited metabolic disorders in Thailand.
Hyperargininemia
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Hyperglycinemia, Nonketotic
Inherited metabolic disorders in Thailand.
Hyperlysinemias
Periodic hyperammonemia, hyperlysinemia, and homocitrullinuria associated with decreased argininosuccinate synthetase and arginase activities.
Hyperthyroidism
Triiodothyronine administration affects urea synthesis in rats.
Infection
Argininosuccinate synthetase 1 depletion produces a metabolic state conducive to herpes simplex virus 1 infection.
Sustained generation of nitric oxide and control of mycobacterial infection requires argininosuccinate synthase 1.
Whole-Genome Sequencing Analysis of Methicillin-Resistant Staphylococcus simulans Causing Surgical Site Infection.
Insulinoma
Citrulline-argininosuccinate-arginine cycle coupled to Ca2+-signaling in rat pancreatic beta-cells.
Kidney Failure, Chronic
Effect of chronic renal failure on arginase and argininosuccinate synthetase expression.
Leukemia
Argininosuccinate synthetase gene expression in leukemias: potential diagnostic marker for blastic crisis of chronic myelocytic leukemia.
Elevated argininosuccinate synthetase activity in adult T leukemia cell lines.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Argininosuccinate synthetase gene expression in leukemias: potential diagnostic marker for blastic crisis of chronic myelocytic leukemia.
Liposarcoma
Novel pathways and molecular targets for the treatment of sarcoma.
Liver Diseases
Clearance of argininosuccinate synthetase from the circulation in acute liver disease.
Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening.
Liver Failure, Acute
A pregnant patient with fulminant hepatic failure was found to carry a novel missense mutation in the argininosuccinate synthetase gene.
Lung Neoplasms
Arginine deiminase PEG20 inhibits growth of small cell lung cancers lacking expression of argininosuccinate synthetase.
Lupus Erythematosus, Systemic
Elevated gene expression of argininosuccinate synthetase in peripheral lymphocytes from systemic lupus erythematosus (SLE) patients.
Lymphoma
Targeting Arginine-Dependent Cancers with Arginine-Degrading Enzymes: Opportunities and Challenges.
Marfan Syndrome
Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein.
Melanoma
Activation of Ras/PI3K/ERK pathway induces c-Myc stabilization to upregulate argininosuccinate synthetase, leading to arginine deiminase resistance in melanoma cells.
Arginine deiminase augments the chemosensitivity of argininosuccinate synthetase-deficient pancreatic cancer cells to gemcitabine via inhibition of NF-?B signaling.
Arginine deprivation therapy for malignant melanoma.
Arginine deprivation, autophagy, apoptosis (AAA) for the treatment of melanoma.
Arginine deprivation, growth inhibition and tumour cell death: 3. Deficient utilisation of citrulline by malignant cells.
BRAF inhibitor resistance enhances vulnerability to arginine deprivation in melanoma.
Deprivation of arginine by recombinant human arginase in prostate cancer cells.
Differential expression of argininosuccinate synthetase in serous and non-serous ovarian carcinomas.
Elastin-derived peptides upregulate matrix metalloproteinase-2-mediated melanoma cell invasion through elastin-binding protein.
High sensitivity of human melanoma cell lines to the growth inhibitory activity of mycoplasmal arginine deiminase in vitro.
Negative argininosuccinate synthetase expression in melanoma tumours may predict clinical benefit from arginine-depleting therapy with pegylated arginine deiminase.
Pegylated arginine deiminase (ADI-SS PEG20,000 mw) inhibits human melanomas and hepatocellular carcinomas in vitro and in vivo.
Renal cell carcinoma does not express argininosuccinate synthetase and is highly sensitive to arginine deprivation via arginine deiminase.
Resistance to arginine deiminase treatment in melanoma cells is associated with induced argininosuccinate synthetase expression involving c-Myc/HIF-1alpha/Sp4.
Targeted cellular metabolism for cancer chemotherapy with recombinant arginine-degrading enzymes.
Targeting Arginine-Dependent Cancers with Arginine-Degrading Enzymes: Opportunities and Challenges.
Targeting argininosuccinate synthetase negative melanomas using combination of arginine degrading enzyme and cisplatin.
The relationship of arginine deprivation, argininosuccinate synthetase and cell death in melanoma.
Menkes Kinky Hair Syndrome
Inherited metabolic disorders in Thailand.
Mesothelioma
Arginine Deprivation With Pegylated Arginine Deiminase in Patients With Argininosuccinate Synthetase 1-Deficient Malignant Pleural Mesothelioma: A Randomized Clinical Trial.
Combination of arginine deprivation with TRAIL treatment as a targeted-therapy for mesothelioma.
In vivo loss of expression of argininosuccinate synthetase in malignant pleural mesothelioma is a biomarker for susceptibility to arginine depletion.
Metabolic response to pegylated arginine deiminase in mesothelioma with promoter methylation of argininosuccinate synthetase.
Metabolism, Inborn Errors
Citrullinemia with an atypical presentation: persistent hiccups. Case report.
Mucopolysaccharidoses
Inherited metabolic disorders in Thailand.
Mucopolysaccharidosis I
Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.
Neoplasm Metastasis
Combined lysosomal protein transmembrane 4 beta-35 and argininosuccinate synthetase expression predicts clinical outcome in hepatocellular carcinoma patients.
Reduced argininosuccinate synthetase is a predictive biomarker for the development of pulmonary metastasis in patients with osteosarcoma.
Neoplasms
A cohort of supporting metabolic enzymes is coinduced with nitric oxide synthase in human tumor cell lines.
A Phase II Study of Arginine Deiminase (ADI-PEG20) in Relapsed/Refractory or Poor-Risk Acute Myeloid Leukemia Patients.
A proposed interaction mechanism between elastin-derived peptides and the elastin/laminin receptor-binding domain.
Aberrant regulation of argininosuccinate synthetase by TNF-alpha in human epithelial ovarian cancer.
Activation of Ras/PI3K/ERK pathway induces c-Myc stabilization to upregulate argininosuccinate synthetase, leading to arginine deiminase resistance in melanoma cells.
ADI, autophagy and apoptosis: metabolic stress as a therapeutic option for prostate cancer.
Analysis of Gene Expression in 3D Spheroids Highlights a Survival Role for ASS1 in Mesothelioma.
Arginine deiminase augments the chemosensitivity of argininosuccinate synthetase-deficient pancreatic cancer cells to gemcitabine via inhibition of NF-?B signaling.
Arginine deiminase PEG20 inhibits growth of small cell lung cancers lacking expression of argininosuccinate synthetase.
Arginine dependence of tumor cells: targeting a chink in cancer's armor.
Arginine deprivation and argininosuccinate synthetase expression in the treatment of cancer.
Arginine deprivation as a targeted therapy for cancer.
Arginine Deprivation With Pegylated Arginine Deiminase in Patients With Argininosuccinate Synthetase 1-Deficient Malignant Pleural Mesothelioma: A Randomized Clinical Trial.
Arginine deprivation, growth inhibition and tumour cell death: 3. Deficient utilisation of citrulline by malignant cells.
Arginine Starvation Impairs Mitochondrial Respiratory Function in ASS1-Deficient Breast Cancer Cells.
Attenuation of argininosuccinate lyase inhibits cancer growth via cyclin A2 and nitric oxide.
Characterization of chromosome 9 deletions in transitional cell carcinoma by microsatellite assay.
Cisplatin-induced synthetic lethality to arginine-starvation therapy by transcriptional suppression of ASS1 is regulated by DEC1, HIF-1?, and c-Myc transcription network and is independent of ASS1 promoter DNA methylation.
Co-application of canavanine and irradiation uncouples anticancer potential of arginine deprivation from citrulline availability.
Combination of arginine deprivation with TRAIL treatment as a targeted-therapy for mesothelioma.
Combined lysosomal protein transmembrane 4 beta-35 and argininosuccinate synthetase expression predicts clinical outcome in hepatocellular carcinoma patients.
Cytotoxicity of human recombinant arginase I (Co)-PEG5000 in the presence of supplemental L-citrulline is dependent on decreased argininosuccinate synthetase expression in human cells.
Deprivation of arginine by recombinant human arginase in prostate cancer cells.
Differential expression of argininosuccinate synthetase in serous and non-serous ovarian carcinomas.
Down-regulation of argininosuccinate synthetase is associated with cisplatin resistance in hepatocellular carcinoma cell lines: implications for PEGylated arginine deiminase combination therapy.
Engineering an arginine catabolizing bioconjugate: Biochemical and pharmacological characterization of PEGylated derivatives of arginine deiminase from Mycoplasma arthritidis.
Gas6/Axl is the sensor of arginine-auxotrophic response in targeted chemotherapy with arginine-depleting agents.
Imaging of tumor vascularization using fluorescence molecular tomography to monitor arginine deiminase treatment in melanoma.
In-vivo evaluation of human recombinant Co-arginase against A375 melanoma xenografts.
Incidence and distribution of argininosuccinate synthetase deficiency in human cancers: a method for identifying cancers sensitive to arginine deprivation.
Increased expression of argininosuccinate synthetase protein predicts poor prognosis in human gastric cancer.
Induction of citrulline-nitric oxide (NO) cycle enzymes and NO production in immunostimulated rat RPE-J cells.
Induction of inducible nitric oxide synthase, argininosuccinate synthase, and GTP cyclohydrolase I in arthritic joints of human tumor necrosis factor-alpha transgenic mice.
L-Canavanine Potentiates Cytotoxicity of Chemotherapeutic Drugs in Human Breast Cancer Cells.
L-Canavanine potentiates the cytotoxicity of doxorubicin and cisplatin in arginine deprived human cancer cells.
Molecular analysis of a myxoid chondrosarcoma with rearrangements of chromosomes 10 and 22.
Negative argininosuccinate synthetase expression in melanoma tumours may predict clinical benefit from arginine-depleting therapy with pegylated arginine deiminase.
Novel pathways and molecular targets for the treatment of sarcoma.
Pegylated arginine deiminase (ADI-SS PEG20,000 mw) inhibits human melanomas and hepatocellular carcinomas in vitro and in vivo.
Pegylated arginine deiminase: a novel anticancer enzyme agent.
Phase 1 Dose-Escalation Study of Pegylated Arginine Deiminase, Cisplatin, and Pemetrexed in Patients With Argininosuccinate Synthetase 1-Deficient Thoracic Cancers.
Phase I/II study of pegylated arginine deiminase (ADI-PEG 20) in patients with advanced melanoma.
Purification and immobilization of L-arginase from thermotolerant Penicillium chrysogenum KJ185377.1; with unique kinetic properties as thermostable anticancer enzyme.
Recombinant human arginase inhibits proliferation of human hepatocellular carcinoma by inducing cell cycle arrest.
RNA interference of argininosuccinate synthetase restores sensitivity to recombinant arginine deiminase (rADI) in resistant cancer cells.
Selective Intracellular Delivery of Recombinant Arginine Deiminase (ADI) Using pH-Sensitive Cell Penetrating Peptides To Overcome ADI Resistance in Hypoxic Breast Cancer Cells.
Targeted cellular metabolism for cancer chemotherapy with recombinant arginine-degrading enzymes.
Targeting Arginine-Dependent Cancers with Arginine-Degrading Enzymes: Opportunities and Challenges.
Targeting argininosuccinate synthetase negative melanomas using combination of arginine degrading enzyme and cisplatin.
The Combination of Arginine Deprivation and 5-Fluorouracil Improves Therapeutic Efficacy in Argininosuccinate Synthetase Negative Hepatocellular Carcinoma.
Tumor necrosis factor-alpha reduces argininosuccinate synthase expression and nitric oxide production in aortic endothelial cells.
Neurilemmoma
Novel pathways and molecular targets for the treatment of sarcoma.
Neurologic Manifestations
Liver transplantation as treatment for neurological disorders.
ornithine carbamoyltransferase deficiency
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
New insights in nutritional management and amino acid supplementation in urea cycle disorders.
Ornithine Carbamoyltransferase Deficiency Disease
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate.
Genetic approach to prenatal diagnosis in urea cycle defects.
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders.
New insights in nutritional management and amino acid supplementation in urea cycle disorders.
Osteosarcoma
Reduced argininosuccinate synthetase is a predictive biomarker for the development of pulmonary metastasis in patients with osteosarcoma.
Ovarian Neoplasms
Aberrant regulation of argininosuccinate synthetase by TNF-alpha in human epithelial ovarian cancer.
Differential expression of argininosuccinate synthetase in serous and non-serous ovarian carcinomas.
Epigenetic silencing of argininosuccinate synthetase confers resistance to platinum-induced cell death but collateral sensitivity to arginine auxotrophy in ovarian cancer.
Pancreatic Neoplasms
Pancreatic cancer cell lines deficient in argininosuccinate synthetase are sensitive to arginine deprivation by arginine deiminase.
Phenylketonurias
Argininosuccinate synthetase gene is silenced by CpG methylation in children with phenylketonuria.
Inherited metabolic disorders in Thailand.
Piebaldism
Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred.
Propionic Acidemia
Inherited metabolic disorders in Thailand.
Prostatic Neoplasms
Arginine starvation-associated atypical cellular death involves mitochondrial dysfunction, nuclear DNA leakage, and chromatin autophagy.
Deprivation of arginine by recombinant human arginase in prostate cancer cells.
Retinoblastoma
Anti-tumor activity of arginine deiminase via arginine deprivation in retinoblastoma.
Rhabdomyosarcoma, Alveolar
Novel pathways and molecular targets for the treatment of sarcoma.
Sarcoma
Novel pathways and molecular targets for the treatment of sarcoma.
Targeting Arginine-Dependent Cancers with Arginine-Degrading Enzymes: Opportunities and Challenges.
Sarcoma, Avian
Expression of human argininosuccinate synthetase after retroviral-mediated gene transfer.
Sepsis
Hepatic glutamine metabolism in the septic rat.
Solitary Fibrous Tumors
Novel pathways and molecular targets for the treatment of sarcoma.
Starvation
Metabolite regulation of argininosuccinate synthetase in cultured human cells.
Stomach Neoplasms
Argininosuccinate synthetase 1 suppression and arginine restriction inhibit cell migration in gastric cancer cell lines.
Increased expression of argininosuccinate synthetase protein predicts poor prognosis in human gastric cancer.
Tremor
Linkage analysis with chromosome 9 markers in hereditary essential tremor.
Urea Cycle Disorders, Inborn
Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ.
Improved standards for prenatal diagnosis of citrullinemia.
Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs.
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
New insights in nutritional management and amino acid supplementation in urea cycle disorders.
Steatogenesis in adult-onset type II citrullinemia is associated with down-regulation of PPAR?.
Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.
Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol.
Urinary Bladder Neoplasms
Prognostic and therapeutic impact of argininosuccinate synthetase 1 control in bladder cancer as monitored longitudinally by PET imaging.
Urologic Neoplasms
Targeting Arginine-Dependent Cancers with Arginine-Degrading Enzymes: Opportunities and Challenges.
Whooping Cough
Conformational dependence of collagenase (matrix metalloproteinase-1) up-regulation by elastin peptides in cultured fibroblasts.