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Disease on EC 6.3.2.3 - glutathione synthase

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DISEASE
TITLE OF PUBLICATION
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5'-nucleotidase deficiency
Enzymatic diagnosis in non-spherocytic hemolytic anemia.
5-oxoprolinase (atp-hydrolysing) deficiency
5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle.
A newborn infant with generalized glutathione synthetase deficiency.
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.
Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.
Patients with genetic defects in the gamma-glutamyl cycle.
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Acidosis
Acute administration of 5-oxoproline induces oxidative damage to lipids and proteins and impairs antioxidant defenses in cerebral cortex and cerebellum of young rats.
Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.
Glutathione synthetase deficiency: a novel mutation with femur agenesis.
Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency.
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency.
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.
Inborn errors in the metabolism of glutathione.
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
Neonatal 5-oxoprolinuria: difficult-to-diagnose?
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.
Profound metabolic acidosis and oxoprolinuria in an adult.
Pyroglutamic acidemia in an adult patient.
The acetaminophen metabolite N-acetyl-p-benzoquinone imine (NAPQI) inhibits glutathione synthetase in vitro; a clue to the mechanism of 5-oxoprolinuric acidosis?
[Gluthathion synthetase deficit in a newborn infant.]
Acidosis, Lactic
[Gluthathion synthetase deficit in a newborn infant.]
Adenomatous Polyposis Coli
Oncocytic papillary neoplasms of the biliary tract: a clinicopathological, mucin core and Wnt pathway protein analysis of four cases.
adenylate kinase deficiency
Enzymatic diagnosis in non-spherocytic hemolytic anemia.
adenylosuccinate lyase deficiency
Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders.
Albinism
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency.
Anemia, Hemolytic
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
Acute administration of 5-oxoproline induces oxidative damage to lipids and proteins and impairs antioxidant defenses in cerebral cortex and cerebellum of young rats.
Biochemical heterogeneity in glutathione synthetase deficiency.
Chronic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency or glutathione synthetase deficiency: the role of vitamin E in its treatment.
Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.
Glutathione synthetase deficiency: a novel mutation with femur agenesis.
Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency.
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency.
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.
Inborn errors in the metabolism of glutathione.
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
Mutations in the glutathione synthetase gene cause 5-oxoprolinuria.
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.
Patients with genetic defects in the gamma-glutamyl cycle.
Pyroglutamic acidemia in an adult patient.
Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency.
Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Astrocytoma
Glutaminolysis dynamics during astrocytoma progression correlates with tumor aggressiveness.
Ataxia
Pyroglutamic acidemia in an adult patient.
Bacterial Infections
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.
Inborn errors in the metabolism of glutathione.
Breast Neoplasms
Temozolomide-modulated glioma proteome: role of interleukin-1 receptor-associated kinase-4 (IRAK4) in chemosensitivity.
Carcinoma
Expression of glutathione S-transferase pi and glutathione synthase correlates with survival in early stage non-small cell carcinomas of the lung.
Carcinoma, Hepatocellular
Glutathione synthesis in normal liver and in Yoshida AH-130 hepatoma.
Cataract
Activity loss of glutathione synthesis enzymes associated with human subcapsular cataract.
Glutathione and glutathione-related enzymes in human cataractous lenses.
Chediak-Higashi Syndrome
Role of membrane vitamin E and cytoplasmic glutathione in the regulation of phagocytic functions of neutrophils and monocytes.
Cholestasis
Increase in renal glutathione in cholestatic liver disease is due to a direct effect of bile acids.
Cone-Rod Dystrophies
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.
Cystinuria
Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders.
Dehydration
Gene expression and physiological responses to salinity and water stress of contrasting durum wheat genotypes.
Galactosemias
Abnormalities of retinal metabolism in diabetes or experimental galactosemia. IV. Antioxidant defense system.
gamma-glutamyltransferase deficiency
Patients with genetic defects in the gamma-glutamyl cycle.
Genetic Diseases, Inborn
Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene.
Low molecular weight thiol content in glutathione synthetase-deficient human fibroblasts.
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
Glioma
CD95/CD95 ligand-independent potentiation of treosulfan cytotoxicity by BSO in malignant glioma cells in vitro and in vivo.
glucose-6-phosphate dehydrogenase (nadp+) deficiency
Chronic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency or glutathione synthetase deficiency: the role of vitamin E in its treatment.
glucose-6-phosphate isomerase deficiency
Enzymatic diagnosis in non-spherocytic hemolytic anemia.
Glucosephosphate Dehydrogenase Deficiency
Chronic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency or glutathione synthetase deficiency: the role of vitamin E in its treatment.
glutamate-cysteine ligase deficiency
Inborn errors in the metabolism of glutathione.
L-pyroglutamic acid inhibits energy production and lipid synthesis in cerebral cortex of young rats in vitro.
glutathione peroxidase deficiency
Role of membrane vitamin E and cytoplasmic glutathione in the regulation of phagocytic functions of neutrophils and monocytes.
glutathione synthase deficiency
5-Oxoproline reduces non-enzymatic antioxidant defenses in vitro in rat brain.
5-Oxoprolinuria due to glutathione synthetase deficiency.
5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle.
A case of severe glutathione synthetase deficiency with novel GSS mutations.
A fluorescence-based microtiter plate assay for ?-glutamylcyclotransferase.
A newborn infant with generalized glutathione synthetase deficiency.
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
A therapeutic trial with N-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria).
Acetaminophen toxicity in lymphocytes heterozygous for glutathione synthetase deficiency.
Acute administration of 5-oxoproline induces oxidative damage to lipids and proteins and impairs antioxidant defenses in cerebral cortex and cerebellum of young rats.
Acute metabolic crisis with extreme deficiency of glutathione in combination with decreased levels of leukotriene C4 in a patient with glutathione synthetase deficiency.
Altered phagocytosis and microtubule function in leukocytes from a patient with severe glutathione synthase deficiency (5-oxoprolinuria).
Amino acid sequence of rat kidney glutathione synthetase.
Analysis of leukotrienes in cerebrospinal fluid of a reference population and patients with inborn errors of metabolism: further evidence for a pathognomonic profile in LTC(4)-synthesis deficiency.
Association of glutathione synthetase deficiency and diminished amino acid transport in yeast.
Biochemical heterogeneity in glutathione synthetase deficiency.
Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders.
Cholesterol synthesis in patients with glutathione deficiency.
Chronic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency or glutathione synthetase deficiency: the role of vitamin E in its treatment.
Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.
Deficient synthesis of cysteinyl leukotrienes in glutathione synthetase deficiency.
Diagnosis of glutathione synthetase deficiency in newborn screening.
Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene.
Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency.
Effect of decreased glutathione levels in hereditary glutathione synthetase deficiency on dibromoethane-induced genotoxicity in human fibroblasts.
Enzymatic diagnosis in non-spherocytic hemolytic anemia.
Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency.
Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency.
Generalized glutathione synthetase deficiency and pregnancy.
Genetic disorders of glutathione and sulfur amino-acid metabolism. New biochemical insights and therapeutic approaches.
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
Glutathione synthetase deficiency as a cause of hereditary hemolytic disease.
Glutathione synthetase deficiency associated with antenatal cerebral bleeding.
Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria).
Glutathione synthetase deficiency.
Glutathione synthetase deficiency: a family report.
Glutathione synthetase deficiency: a novel mutation with femur agenesis.
Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?
Glutathione synthetase-deficient lymphocytes and acetaminophen toxicity.
Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency.
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency.
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.
High-dose vitamin E therapy in glutathione synthetase deficiency.
Human genetic defect in leukotriene C4 synthesis.
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.
Impaired synthesis of lipoxygenase products in glutathione synthetase deficiency.
Improved erythrocyte survival with high-dose vitamin E in chronic hemolyzing G6PD and glutathione synthetase deficiencies.
Inborn errors in the metabolism of glutathione.
Kinetic properties of missense mutations in patients with glutathione synthetase deficiency.
L-pyroglutamic acid inhibits energy production and lipid synthesis in cerebral cortex of young rats in vitro.
Long-term clinical outcome in patients with glutathione synthetase deficiency.
Molecular basis of glutathione synthetase deficiency and a rare gene permutation event.
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.
Nitrofurantoin cytotoxicity. In vitro assessment of risk based on glutathione metabolism.
Ophthalmological, psychometric and therapeutic investigation in two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria).
Oxidative damage to neutrophils in glutathione synthetase deficiency.
Oxidative DNA damage in cultured fibroblasts from patients with hereditary glutathione synthetase deficiency.
Patients with genetic defects in the gamma-glutamyl cycle.
Physiological and pathological aspects of GSH metabolism.
Prenatal analysis in two suspected cases of glutathione synthetase deficiency.
Prenatal diagnosis of glutathione synthase deficiency.
Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency.
Protection of granulocytes by vitamin E in glutathione synthetase deficiency.
Pyroglutamic acidemia in an adult patient.
Pyroglutamic aciduria (5-oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activity.
Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.
Role of membrane vitamin E and cytoplasmic glutathione in the regulation of phagocytic functions of neutrophils and monocytes.
S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency.
Sulphur amino-acid degradation in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria).
The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2.
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency.
Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy.
Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.
Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency.
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
[A case of glutathione synthetase deficiency caused by GSS gene mutations].
[Biochemical and molecular bases of glutathione synthetase deficiency]
[Glutathione synthetase deficiency]
[Gluthathion synthetase deficit in a newborn infant.]
glutathione transferase deficiency
Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency.
Homocystinuria
Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders.
Hypersensitivity
Cloning and sequencing of the gene encoding the large subunit of glutathione synthetase of Schizosaccharomyces pombe.
Hypertension
Nitric oxide synthase expression in hypertension induced by inhibition of glutathione synthase.
Infections
Glutathione synthesis is compromised in erythrocytes from individuals with HIV.
Opportunistic Pathogen Porphyromonas gingivalis Modulates Danger Signal ATP-Mediated Antibacterial NOX2 Pathways in Primary Epithelial Cells.
Lung Neoplasms
[Correlations between genetic variations of glutathione synthetase gene and the response to platinum-based chemotherapy and prognosis of small cell lung cancer patients].
Lymphoma
Effect of alterations in apoptotic pathway on development of metabolic syndrome in patients with psoriasis vulgaris.
Macular Degeneration
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.
Macular Edema
Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy.
Metabolic Diseases
L-pyroglutamic acid inhibits energy production and lipid synthesis in cerebral cortex of young rats in vitro.
Metabolism, Inborn Errors
Analysis of leukotrienes in cerebrospinal fluid of a reference population and patients with inborn errors of metabolism: further evidence for a pathognomonic profile in LTC(4)-synthesis deficiency.
Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency.
Mitochondrial Diseases
Analysis of leukotrienes in cerebrospinal fluid of a reference population and patients with inborn errors of metabolism: further evidence for a pathognomonic profile in LTC(4)-synthesis deficiency.
Neoplasms
A fluorescence-based microtiter plate assay for ?-glutamylcyclotransferase.
Acute acetaminophen toxicity in transgenic mice with elevated hepatic glutathione.
Antioxidant and glutathione-associated enzymes in Wilms' tumour after chemotherapy.
Characterization of the MDSC Proteome Associated with Metastatic Murine Mammary Tumors Using Label-Free Mass Spectrometry and Shotgun Proteomics.
Differential sensitivity of tumor cells to externally generated hydrogen peroxide. Role of glutathione and related enzymes.
Expression of glutathione S-transferase pi and glutathione synthase correlates with survival in early stage non-small cell carcinomas of the lung.
Expression of glutathione, glutathione peroxidase and glutathione S-transferase pi in canine mammary tumors.
Glutathione S-transferase isoenzymes and glutathione in renal cell carcinoma and kidney tissue.
Inflammatory and Antioxidant Gene Transcripts: A Novel Profile in Postoperative Atrial Fibrillation.
Leigongteng (Radix et Rhizoma Tripterygii) via compatibility with Jinqiancao (Herba Lysimachiae): its toxicity-reduced efficacy in H22-bearing mice.
Mechanism of arctigenin-mediated specific cytotoxicity against human lung adenocarcinoma cell lines.
Nervous System Diseases
Glutathione synthetase deficiency: a novel mutation with femur agenesis.
Neutropenia
Oxidative damage to neutrophils in glutathione synthetase deficiency.
phosphoglycerate kinase deficiency
Enzymatic diagnosis in non-spherocytic hemolytic anemia.
Plague
Glutathionylation of Yersinia pestis LcrV and Its Effects on Plague Pathogenesis.
Psoriasis
Effect of alterations in apoptotic pathway on development of metabolic syndrome in patients with psoriasis vulgaris.
Pyelonephritis
Association of mRNA Levels of IL6, MMP-8, GSS in Saliva and Pyelonephritis in Children.
Retinal Dystrophies
Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency.
Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy.
Sepsis
Glutathione synthetase deficiency: a novel mutation with femur agenesis.
Small Cell Lung Carcinoma
[Correlations between genetic variations of glutathione synthetase gene and the response to platinum-based chemotherapy and prognosis of small cell lung cancer patients].
Spinal Cord Injuries
Identification of potential oxidative stress biomarkers for spinal cord injury in erythrocytes using mass spectrometry.
Squamous Cell Carcinoma of Head and Neck
2D-DIGE proteomic characterization of head and neck squamous cell carcinoma.
Starvation
A clickable glutathione approach for identification of protein glutathionylation in response to glucose metabolism.
Nitrogen Supply and Leaf Age Affect the Expression of TaGS1 or TaGS2 Driven by a Constitutive Promoter in Transgenic Tobacco.
Zellweger Syndrome
Analysis of leukotrienes in cerebrospinal fluid of a reference population and patients with inborn errors of metabolism: further evidence for a pathognomonic profile in LTC(4)-synthesis deficiency.