Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria).

scientific article published on June 1974

Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria). is …
instance of (P31):
scholarly articleQ13442814

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P819ADS bibcode1974PNAS...71.2505W
P356DOI10.1073/PNAS.71.6.2505
P8608Fatcat IDrelease_zmug2ymcwbappf7ezgocnsd5va
P932PMC publication ID388488
P698PubMed publication ID4152248
P5875ResearchGate publication ID19014014

P2093author name stringLarsson A
Meister A
Sekura R
Wellner VP
P2860cites workProtein measurement with the Folin phenol reagentQ20900776
Enzymatic Conversion of 5-Oxo-L-Proline (L-Pyrrolidone Carboxylate) to L-Glutamate Coupled with Cleavage of Adenosine Triphosphate to Adenosine Diphosphate, a Reaction in the γ-Glutamyl CycleQ24616201
THE OPTICALLY-SPECIFIC ENZYMATIC CYCLIZATION OF D-GLUTAMATEQ28156017
The gamma-glutamyl cycle: a possible transport system for amino acidsQ33708826
On the enzymology of amino acid transportQ39872601
Glutathione biosynthesis in human erythrocytes. I. Identification of the enzymes of glutathione synthesis in hemolysatesQ40324482
Pyroglutamic aciduria. Studies in an infant with chronic metabolic acidosisQ47867627
Pyroglutamic aciduria--a new inborn error of metabolismQ48881161
Esophageal hiatus hernia and mental retardation: life-threatening postoperative metabolic acidosis and potassium deficiency linked with a new inborn error of nitrogen metabolismQ52121340
Partial reactions catalyzed by -glutamylcysteine synthetase and evidence for an activated glutamate intermediate.Q53938253
Glutathione Synthetase Deficiency as a Cause of Hereditary Hemolytic DiseaseQ54975433
[Glutathione synthesis during congenital hemolytic anemia with reduced glutathione deficiency. Congenital erythrocytic glutathione-synthetase deficiency?]Q68375113
The Metabolism of L-Pyroglutamic Acid in Fibroblasts from a Patient with Pyroglutamic Aciduria: The Demonstration of an L-Pyroglutamate Hydrolase SystemQ70403025
Pyroglutamic aciduria: studies on the enzymic block and on the metabolic origin of pyroglutamic acidQ70443420
Tripeptide (Glutathione) Synthetase. Purification, Properties, and Mechanism of Action*Q72246025
Disulfide and sulfhydryl compounds in TCA extracts of human blood and plasmaQ72252854
Congenital nonspherocytic hemolytic anemia, associated with glutathione deficiency of the erythrocytes. Hematologic, biochemical and genetic studiesQ72756091
Hereditary absence of reduced glutathione in the erythrocytes - a new clinical and biochemical entity? (Preliminary communication)Q78954575
P433issue6
P407language of work or nameEnglishQ1860
P921main subjectglutathioneQ116907
patientQ181600
glutathione synthetase deficiencyQ102296856
P304page(s)2505-2509
P577publication date1974-06-01
P1433published inProceedings of the National Academy of Sciences of the United States of AmericaQ1146531
P1476titleGlutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria).
P478volume71

Reverse relations

cites work (P2860)
Q520531555-Oxoprolinuria in an adolescent with chronic metabolic acidosis, mental retardation, and psychosis.
Q675873655-oxoprolinuria: biochemical observations and case report
Q48279000A Novel Prodrug of a γ-Glutamylcyclotransferase Inhibitor Suppresses Cancer Cell Proliferation in vitro and Inhibits Tumor Growth in a Xenograft Mouse Model of Prostate Cancer.
Q72561448A Reappraisal of the γ-Glutamylcysteine Synthetase Activity in Haemolysates from Normal Erythrocytes by Two Different Methods
Q54975421A simple screening test for reduced glutathione in filter paper spots of blood
Q69217279A therapeutic trial with N-acetylcysteine in subjects with hereditary glutathione synthetase deficiency (5-oxoprolinuria)
Q40296178An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias
Q42588542Animal model of human disease: inherited erythrocyte glutathione deficiency
Q36900349Apoptotic process in the monkey small intestinal epithelium: I. Association with glutathione level and its efflux
Q34915288Application of human placental villous tissue explants to study ABC transporter mediated efflux of 2,4-dinitrophenyl-S-glutathione
Q68613549Atypical pyroglutamic aciduria: possible role of paracetamol
Q30449875Biochemical heterogeneity in glutathione synthetase deficiency
Q78138900Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency
Q70403389Compilation of gas chromatographic retention indices of 163 metabolically important organic acids, and their use in detection of patients with organic acidurias
Q71017012Disulphide reduction in glutathione-deficient erythrocytes from a patient with pyroglutamic acidemia
Q42000945Effect of Methylene Blue on glutamate and reduced glutathione of rabbit erythrocytes
Q35891763Emerging regulatory paradigms in glutathione metabolism
Q24564128Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency
Q28646485Evidence that the gamma-glutamyl cycle functions in vivo using intracellular glutathione: effects of amino acids and selective inhibition of enzymes
Q38103845Function of Glutathione in Kidney Via The γ-Glutamyl Cycle
Q44780535Function of conserved residues of human glutathione synthetase: implications for the ATP-grasp enzymes
Q39772163Genetic-Metabolic Considerations in the Sick Neonate
Q39064820Glutathione (author's transl)
Q39131539Glutathione Metabolism and Some Possible Functions of Glutathione in the Nervous System
Q35984404Glutathione and gamma-glutamyl cycle enzymes in crypt and villus tip cells of rat jejunal mucosa
Q44106954Glutathione depletion with L-buthionine-(S,R)-sulfoximine demonstrates deleterious effects in acute pancreatitis of the rat.
Q44363160Glutathione synthetase deficiency: is gamma-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?
Q37454399Glutathione turnover in the kidney; considerations relating to the gamma-glutamyl cycle and the transport of amino acids
Q74811856Glutathione: an overview of biosynthesis and modulation
Q41787033H.p.l.c. separation and study of the charge isomers of human placental glutathione transferase
Q37610486Inhibition of glutathione synthesis in the newborn rat: a model for endogenously produced oxidative stress
Q54435685Intracellular cysteine and glutathione delivery systems.
Q42996992Kinetic properties of missense mutations in patients with glutathione synthetase deficiency
Q72433603L-gamma-(Threo-beta-methyl)glutamyl-L-alpha-aminobutyrate, a selective substrate of alpha-glutamyl cyclotransferase
Q52284591Neonatal 5-oxoprolinuria: difficult-to-diagnose?
Q39307107New Aspects of Glutathione Metabolism and Translocation in Mammals
Q40085021On the Cycles of Glutathione Metabolism and Transport
Q38069523On the Function of the γ-Glutamyl Cycle in the Transport of Amino Acids and Peptides
Q33566233On the active site thiol of gamma-glutamylcysteine synthetase: relationships to catalysis, inhibition, and regulation
Q39107247Organic Acidemias
Q39105656Possible Role of Glutathione in Transport Processes
Q40245324Prenatal diagnosis of inherited metabolic diseases; principles, pitfalls, and prospects.
Q42868711Profound metabolic acidosis from pyroglutamic acidemia: an underappreciated cause of high anion gap metabolic acidosis
Q90358604Pyroglutamic Acidemia: An Underrecognized and Underdiagnosed Cause of High Anion Gap Metabolic Acidosis - A Case Report and Review of Literature
Q71564076Pyroglutamic aciduria (5-oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activity
Q37560726Radioprotection by glutathione ester: transport of glutathione ester into human lymphoid cells and fibroblasts
Q72486098Red Cell Glutathione Deficiency: Clinical and Biochemical Investigations using Sheep as an Experimental Model System
Q42252724Regulation of cerebral kynurenine and 5-hydroxyindole pathways during tryptophan loading
Q66909758Regulation of gamma-glutamyl-cysteine synthetase by nonallosteric feedback inhibition by glutathione
Q28114781Sequencing and expression of a cDNA for human glutathione synthetase
Q34396551Synthesis, physical properties, toxicological studies and bioavailability of L-pyroglutamic and L-glutamic acid esters of paracetamol as potentially useful prodrugs.
Q39293102The Glutathione Status of Cells
Q34075460The Metabolic Formation and Utilization of 5‐Oxo‐ L ‐proline ( L ‐Pyroglutamate, L ‐Pyrrolidone Carboxylate)
Q58189741The cerebral lesions in a patient with generalized glutathione deficiency and pyroglutamic aciduria (5-oxoprolinuria)
Q24318373The identification and structural characterization of C7orf24 as gamma-glutamyl cyclotransferase. An essential enzyme in the gamma-glutamyl cycle
Q102075434The maturity in fetal pigs using a multi-fluid metabolomic approach
Q54683142Thioredoxin and glutathione in cultured fibroblasts from human cases with 5-oxoprolinuria and cystinosis
Q68048547Transient 5-oxoprolinuria in a very low-birthweight infant
Q35768118Widespread expression of γ-glutamyl cyclotransferase suggests it is not a general tumor marker
Q28316134alpha-Aminomethylglutarate, a beta-amino analog of glutamate that interacts with glutamine synthetase and the enzymes that catalyze glutathione synthesis
Q39182570gamma-Glutamyl transpeptidase. Determination of specificity in the presence of multiple amino acid acceptors