Disease on EC 6.3.2.3 - glutathione synthase
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5-oxoprolinase (atp-hydrolysing) deficiency
5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle.
5-oxoprolinase (atp-hydrolysing) deficiency
A newborn infant with generalized glutathione synthetase deficiency.
5-oxoprolinase (atp-hydrolysing) deficiency
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.
5-oxoprolinase (atp-hydrolysing) deficiency
Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies.
5-oxoprolinase (atp-hydrolysing) deficiency
Patients with genetic defects in the gamma-glutamyl cycle.
5-oxoprolinase (atp-hydrolysing) deficiency
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.
Acidosis
Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.
Acidosis
Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency.
Acidosis
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency.
Acidosis
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.
Acidosis
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
Acidosis
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.
Acidosis
The acetaminophen metabolite N-acetyl-p-benzoquinone imine (NAPQI) inhibits glutathione synthetase in vitro; a clue to the mechanism of 5-oxoprolinuric acidosis?
Adenomatous Polyposis Coli
Oncocytic papillary neoplasms of the biliary tract: a clinicopathological, mucin core and Wnt pathway protein analysis of four cases.
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.
Anemia, Hemolytic
Acute administration of 5-oxoproline induces oxidative damage to lipids and proteins and impairs antioxidant defenses in cerebral cortex and cerebellum of young rats.
Anemia, Hemolytic
Chronic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency or glutathione synthetase deficiency: the role of vitamin E in its treatment.
Anemia, Hemolytic
Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.
Anemia, Hemolytic
Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency.
Anemia, Hemolytic
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency.
Anemia, Hemolytic
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.
Anemia, Hemolytic
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.
Anemia, Hemolytic
Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.
Anemia, Hemolytic
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.
Anemia, Hemolytic
Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.
Anemia, Hemolytic
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency.
Anemia, Hemolytic
Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.
Anemia, Hemolytic
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.
Bacterial Infections
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.
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.
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.
Genetic Diseases, Inborn
Low molecular weight thiol content in glutathione synthetase-deficient human fibroblasts.
Genetic Diseases, Inborn
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
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.
glutathione synthase deficiency
5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle.
glutathione synthase deficiency
A case of severe glutathione synthetase deficiency with novel GSS mutations.
glutathione synthase deficiency
A fluorescence-based microtiter plate assay for ?-glutamylcyclotransferase.
glutathione synthase deficiency
A newborn infant with generalized glutathione synthetase deficiency.
glutathione synthase deficiency
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
glutathione synthase deficiency
A therapeutic trial with N-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria).
glutathione synthase deficiency
Acetaminophen toxicity in lymphocytes heterozygous for glutathione synthetase deficiency.
glutathione synthase 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.
glutathione synthase deficiency
Acute metabolic crisis with extreme deficiency of glutathione in combination with decreased levels of leukotriene C4 in a patient with glutathione synthetase deficiency.
glutathione synthase deficiency
Altered phagocytosis and microtubule function in leukocytes from a patient with severe glutathione synthase deficiency (5-oxoprolinuria).
glutathione synthase deficiency
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.
glutathione synthase deficiency
Association of glutathione synthetase deficiency and diminished amino acid transport in yeast.
glutathione synthase deficiency
Biochemical heterogeneity in glutathione synthetase deficiency.
glutathione synthase deficiency
Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders.
glutathione synthase deficiency
Cholesterol synthesis in patients with glutathione deficiency.
glutathione synthase deficiency
Chronic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency or glutathione synthetase deficiency: the role of vitamin E in its treatment.
glutathione synthase deficiency
Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency.
glutathione synthase deficiency
Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.
glutathione synthase deficiency
Deficient synthesis of cysteinyl leukotrienes in glutathione synthetase deficiency.
glutathione synthase deficiency
Diagnosis of glutathione synthetase deficiency in newborn screening.
glutathione synthase deficiency
Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene.
glutathione synthase deficiency
Effect of ascorbate or N-acetylcysteine treatment in a patient with hereditary glutathione synthetase deficiency.
glutathione synthase deficiency
Effect of decreased glutathione levels in hereditary glutathione synthetase deficiency on dibromoethane-induced genotoxicity in human fibroblasts.
glutathione synthase deficiency
Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency.
glutathione synthase deficiency
Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency.
glutathione synthase deficiency
Generalized glutathione synthetase deficiency and pregnancy.
glutathione synthase deficiency
Genetic disorders of glutathione and sulfur amino-acid metabolism. New biochemical insights and therapeutic approaches.
glutathione synthase deficiency
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency.
glutathione synthase deficiency
Glutathione synthetase deficiency as a cause of hereditary hemolytic disease.
glutathione synthase deficiency
Glutathione synthetase deficiency associated with antenatal cerebral bleeding.
glutathione synthase deficiency
Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria).
glutathione synthase deficiency
Glutathione synthetase deficiency: a novel mutation with femur agenesis.
glutathione synthase deficiency
Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?
glutathione synthase deficiency
Glutathione synthetase-deficient lymphocytes and acetaminophen toxicity.
glutathione synthase deficiency
Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency.
glutathione synthase deficiency
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency.
glutathione synthase deficiency
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.
glutathione synthase deficiency
High-dose vitamin E therapy in glutathione synthetase deficiency.
glutathione synthase deficiency
Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.
glutathione synthase deficiency
Impaired synthesis of lipoxygenase products in glutathione synthetase deficiency.
glutathione synthase deficiency
Improved erythrocyte survival with high-dose vitamin E in chronic hemolyzing G6PD and glutathione synthetase deficiencies.
glutathione synthase deficiency
Kinetic properties of missense mutations in patients with glutathione synthetase deficiency.
glutathione synthase deficiency
L-pyroglutamic acid inhibits energy production and lipid synthesis in cerebral cortex of young rats in vitro.
glutathione synthase deficiency
Long-term clinical outcome in patients with glutathione synthetase deficiency.
glutathione synthase deficiency
Molecular basis of glutathione synthetase deficiency and a rare gene permutation event.
glutathione synthase deficiency
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.
glutathione synthase deficiency
Nitrofurantoin cytotoxicity. In vitro assessment of risk based on glutathione metabolism.
glutathione synthase deficiency
Ophthalmological, psychometric and therapeutic investigation in two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria).
glutathione synthase deficiency
Oxidative damage to neutrophils in glutathione synthetase deficiency.
glutathione synthase deficiency
Oxidative DNA damage in cultured fibroblasts from patients with hereditary glutathione synthetase deficiency.
glutathione synthase deficiency
Prenatal analysis in two suspected cases of glutathione synthetase deficiency.
glutathione synthase deficiency
Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency.
glutathione synthase deficiency
Protection of granulocytes by vitamin E in glutathione synthetase deficiency.
glutathione synthase deficiency
Pyroglutamic aciduria (5-oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activity.
glutathione synthase deficiency
Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.
glutathione synthase deficiency
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.
glutathione synthase deficiency
Role of membrane vitamin E and cytoplasmic glutathione in the regulation of phagocytic functions of neutrophils and monocytes.
glutathione synthase deficiency
S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency.
glutathione synthase deficiency
Sulphur amino-acid degradation in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria).
glutathione synthase deficiency
The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2.
glutathione synthase deficiency
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency.
glutathione synthase deficiency
Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy.
glutathione synthase deficiency
Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.
glutathione synthase deficiency
Tyrosinaemia type 1 and glutathione synthetase deficiency: two disorders with reduced hepatic thiol group concentrations and a liver 4-fumarylacetoacetate hydrolase deficiency.
glutathione synthase deficiency
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
glutathione synthase deficiency
[A case of glutathione synthetase deficiency caused by GSS gene mutations].
glutathione synthase deficiency
[Biochemical and molecular bases of glutathione synthetase deficiency]
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
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.
Metabolism, Inborn Errors
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
Acute acetaminophen toxicity in transgenic mice with elevated hepatic glutathione.
Neoplasms
Antioxidant and glutathione-associated enzymes in Wilms' tumour after chemotherapy.
Neoplasms
Characterization of the MDSC Proteome Associated with Metastatic Murine Mammary Tumors Using Label-Free Mass Spectrometry and Shotgun Proteomics.
Neoplasms
Differential sensitivity of tumor cells to externally generated hydrogen peroxide. Role of glutathione and related enzymes.
Neoplasms
Expression of glutathione S-transferase pi and glutathione synthase correlates with survival in early stage non-small cell carcinomas of the lung.
Neoplasms
Expression of glutathione, glutathione peroxidase and glutathione S-transferase pi in canine mammary tumors.
Neoplasms
Glutathione S-transferase isoenzymes and glutathione in renal cell carcinoma and kidney tissue.
Neoplasms
Inflammatory and Antioxidant Gene Transcripts: A Novel Profile in Postoperative Atrial Fibrillation.
Neoplasms
Leigongteng (Radix et Rhizoma Tripterygii) via compatibility with Jinqiancao (Herba Lysimachiae): its toxicity-reduced efficacy in H22-bearing mice.
Neoplasms
Mechanism of arctigenin-mediated specific cytotoxicity against human lung adenocarcinoma cell lines.
Nervous System Diseases
Glutathione synthetase deficiency: a novel mutation with femur agenesis.
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.
Retinal Dystrophies
Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy.
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.
Starvation
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.
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