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Disease on EC 2.6.1.44 - alanine-glyoxylate transaminase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
alanine-glyoxylate transaminase deficiency
Alanine glyoxylate aminotransferase deficiency: biochemical and molecular genetic lessons from the study of a human disease.
Recurrent truncating mutations in alanine-glyoxylate aminotransferase gene in two South Indian families with primary hyperoxaluria type 1 causing later onset end-stage kidney disease.
Renal allograft survival in patients with oxalosis.
Treatment of primary hyperoxaluria type 1 with sequential liver and kidney transplants from the same living donor.
[Hepatic and renal transplantation in the treatment of type I hyperoxaluria]
Arthritis, Rheumatoid
Genetic variations in the alanine-glyoxylate aminotransferase 2 (AGXT2) gene and dimethylarginines levels in rheumatoid arthritis.
Atherosclerosis
Dysregulated oxalate metabolism is a driver and therapeutic target in atherosclerosis.
Missense variants of the alanine: glyoxylate aminotransferase 2 gene correlated with carotid atherosclerosis in the Japanese population.
Atrial Fibrillation
Associations of functional alanine-glyoxylate aminotransferase 2 gene variants with atrial fibrillation and ischemic stroke.
Carcinoma, Hepatocellular
AGXT2L1 is down-regulated in heptocellular carcinoma and associated with abnormal lipogenesis.
Alanine-glyoxylate aminotransferase 1 (AGXT1) is a novel marker for hepatocellular carcinomas.
Cardiovascular Diseases
Considerable impacts of AGXT2 V140I polymorphism on chronic heart failure in the Chinese population.
Genetic and environmental determinants of dimethylarginines and association with cardiovascular disease in patients with type 2 diabetes.
Carotid Artery Diseases
Missense variants of the alanine: glyoxylate aminotransferase 2 gene correlated with carotid atherosclerosis in the Japanese population.
Cholestasis
Peroxisomal and mitochondrial proliferation and increased alanine: glyoxylate aminotransferase activity in human liver after chlorpromazine-induced cholestasis.
Congenital Abnormalities
[From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene]
Coronary Artery Disease
AGXT2 and DDAH-1 genetic variants are highly correlated with serum ADMA and SDMA levels and with incidence of coronary artery disease in Egyptians.
Coronary Disease
Association of the AGXT2 V140I Polymorphism with Risk for Coronary Heart Disease in a Chinese Population.
Diabetes Mellitus
Association of the AGXT2 V140I Polymorphism with Risk for Coronary Heart Disease in a Chinese Population.
Genetic and environmental determinants of dimethylarginines and association with cardiovascular disease in patients with type 2 diabetes.
Diabetes Mellitus, Type 2
Diabetes-linked transcription factor HNF4? regulates metabolism of endogenous methylarginines and ?-aminoisobutyric acid by controlling expression of alanine-glyoxylate aminotransferase 2.
Genetic and environmental determinants of dimethylarginines and association with cardiovascular disease in patients with type 2 diabetes.
Diabetic Nephropathies
Cluster analysis and phylogenetic relationship in biomarker identification of type 2 diabetes and nephropathy.
Fatty Liver
Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in non-alcoholic fatty liver disease.
Genetic Diseases, Inborn
Gut microbiota and oxalate homeostasis.
Nocturnal Home Hemodialysis for a Patient With Type 1 Hyperoxaluria.
Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child.
glyoxylate reductase deficiency
[Primary hiperoxaluria: a new mutation in gen AGXT (R197Q) cause of neonatal convulsions]
Heart Failure
AGXT2 rs37369 polymorphism predicts the renal function in patients with chronic heart failure.
Considerable impacts of AGXT2 V140I polymorphism on chronic heart failure in the Chinese population.
Hematologic Diseases
AGXT2: a promiscuous aminotransferase.
Hepatitis, Chronic
Peroxisome localized human hepatic alanine-glyoxylate aminotransferase and its application to clinical diagnosis.
Hyperoxaluria
Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndrome.
CRISPR/Cas9-mediated metabolic pathway reprogramming in a novel humanized rat model ameliorates primary hyperoxaluria type 1.
Diversity in residual alanine glyoxylate aminotransferase activity in hyperoxaluria type I: correlation with pyridoxine responsiveness.
Early liver transplantation for primary hyperoxaluria type 1 in an infant with chronic renal failure.
Enteric oxalate elimination is induced and oxalate is normalized in a mouse model of primary hyperoxaluria following intestinal colonization with Oxalobacter.
Generation and characterization of a novel rat model of primary hyperoxaluria type 1 with a nonsense mutation in alanine-glyoxylate aminotransferase gene.
Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies.
Gut microbiota and oxalate homeostasis.
Hepatic alanine-glyoxylate aminotransferase activity and oxalate metabolism in vitamin B6 deficient rats.
Human liver L-alanine-glyoxylate aminotransferase: characteristics and activity in controls and hyperoxaluria type I patients using a simple spectrophotometric method.
Human MiR-4660 regulates the expression of alanine-glyoxylate aminotransferase and may be a biomarker for idiopathic oxalosis.
Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure.
Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1.
Micromethod for the assay of glutamate: glyoxylate aminotransferase and modifications of a micromethod for the assay of alanine: glyoxylate aminotransferase. Implications for the prenatal diagnosis of type I hyperoxaluria by fetal liver biopsy.
Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.
Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1.
Primary hyperoxaluria type 1 in Japan.
Recurrence of primary hyperoxaluria after kidney transplantation.
The role of preemptive liver transplantation in primary hyperoxaluria type 1.
Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria.
[Hepatic and renal transplantation in the treatment of type I hyperoxaluria]
[Primary hiperoxaluria: a new mutation in gen AGXT (R197Q) cause of neonatal convulsions]
Hyperoxaluria, Primary
A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.
A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation.
AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.
AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.
AGXT2: a promiscuous aminotransferase.
Allele-specific Characterization of Alanine: Glyoxylate Aminotransferase Variants Associated with Primary Hyperoxaluria.
An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.
An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary Hyperoxaluria.
ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case.
Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase.
Combined hepatic and renal transplantation in primary hyperoxaluria type I: clinical report of nine cases.
Common mutation underlying primary hyperoxaluria type1 in three Indian children.
Correction of hyperoxaluria by liver repopulation with hepatocytes in a mouse model of primary hyperoxaluria type-1.
Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B
CRISPR/Cas9-mediated metabolic pathway reprogramming in a novel humanized rat model ameliorates primary hyperoxaluria type 1.
Crystal structure and confirmation of the alanine:glyoxylate aminotransferase activity of the YFL030w yeast protein.
Differential expression of liver and kidney proteins in a mouse model for primary hyperoxaluria type I.
Discovery of Novel, Potent Inhibitors of Hydroxy Acid Oxidase 1 (HAO1) Using DNA-Encoded Chemical Library Screening.
Early liver transplantation for primary hyperoxaluria type 1 in an infant with chronic renal failure.
Enzymatic heterogeneity in primary hyperoxaluria type 1 (hepatic peroxisomal alanine: glyoxylate aminotransferase deficiency).
Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity.
Excellent renal function and reversal of nephrocalcinosis 8 years after isolated liver transplantation in an infant with primary hyperoxaluria type 1.
Fetal liver alanine: glyoxylate aminotransferase and the prenatal diagnosis of primary hyperoxaluria type 1.
Flux of the L-serine metabolism in rabbit, human, and dog livers. Substantial contributions of both mitochondrial and peroxisomal serine:pyruvate/alanine:glyoxylate aminotransferase.
Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1.
Generation and characterization of a novel rat model of primary hyperoxaluria type 1 with a nonsense mutation in alanine-glyoxylate aminotransferase gene.
Generation of a Primary Hyperoxaluria Type 1 Disease Model Via CRISPR/Cas9 System in Rats.
Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I.
Gut microbiota and oxalate homeostasis.
Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases.
Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1.
Induction of enteric oxalate secretion by Oxalobacter formigenes in mice does not require the presence of either apical oxalate transport proteins Slc26A3 or Slc26A6.
Inhibition of alanine:glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1.
Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1.
Late-onset primary hyperoxaluria type 1 in a Chinese individual with absent alanine: glyoxylate aminotransferase activity.
Liver transplantation for primary hyperoxaluria type 1: a single-center experience during two decades in Japan.
Liver-kidney transplantation in primary hyperoxaluria type-1: case report and literature review.
Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1.
Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation.
Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I.
Molecular requirements for peroxisomal targeting of alanine-glyoxylate aminotransferase as an essential determinant in primary hyperoxaluria type 1.
Nocturnal Home Hemodialysis for a Patient With Type 1 Hyperoxaluria.
Oral findings associated with primary hyperoxaluria type I.
Oxalate synthesis in mammals: properties and subcellular distribution of serine:pyruvate/alanine:glyoxylate aminotransferase in the liver.
Phenotypic Correction of a Mouse Model for Primary Hyperoxaluria With Adeno-associated Virus Gene Transfer.
Primary hyperoxaluria in an adult male: A rare cause of end-stage kidney disease yet potentially fatal if misdiagnosed.
Primary hyperoxaluria type 1 caused by peroxisome-to-mitochondrion mistargeting of alanine: glyoxylate aminotransferase.
Primary hyperoxaluria type 1 causing end-stage renal disease in a 45-year-old patient.
Primary hyperoxaluria type 1 in Japan.
Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.
Primary hyperoxaluria type 1 with a novel mutation.
Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child.
Primary hyperoxaluria Type 1: A case report in an extended family with a novel AGXT gene mutation.
Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis.
Primary hyperoxaluria type 1: An underestimated cause of nephrocalcinosis and chronic renal failure in Saudi Arabian children.
Primary hyperoxaluria type 1: clinical manifestations in infancy and prenatal diagnosis.
Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity.
Primary hyperoxaluria type 1: still challenging!
Primary Hyperoxaluria-Imaging of Renal Oxalosis.
Primary hyperoxaluria: genotype-phenotype correlation.
Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.
QJM: An International Journal of MedicineTitle: "Imaging of Primary hyperoxaluria with classical renal and skeletal changes".
Rapid identification of primary hyperoxaluria type I patients using a novel, fully automated method for measurement of hepatic alanine: glyoxylate aminotransferase.
Re: four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine: glyoxylate aminotransferase encoded by the polymorphic minor allele.
Recurrent truncating mutations in alanine-glyoxylate aminotransferase gene in two South Indian families with primary hyperoxaluria type 1 causing later onset end-stage kidney disease.
Regressive course of oxalate deposition in primary hyperoxaluria after kidney transplantation.
Stones, bones, and heredity.
Structure of GroEL in complex with an early folding intermediate of alanine glyoxylate aminotransferase.
Success of kidney transplantation in oxalosis is unrelated to residual hepatic enzyme activity.
Successful treatment of primary hyperoxaluria type I by combined hepatic and renal transplantation.
Systemic Alanine Glyoxylate Aminotransferase Messenger RNA Improves Glyoxylate Metabolism in a Mouse Model of Primary Hyperoxaluria Type 1.
Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology.
Targeting of alanine: glyoxylate aminotransferase in normal individuals and its mistargeting in patients with primary hyperoxaluria type 1.
The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.
The first experience of sequential liver-kidney transplantation for the treatment of primary hyperoxaluria type-1 in Iran as a developing country.
The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.
The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1.
The molecular basis of alanine: glyoxylate aminotransferase mistargeting: the most common single cause of primary hyperoxaluria type 1.
The role of preemptive liver transplantation in primary hyperoxaluria type 1.
Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.
Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria.
Transplantation for Primary Hyperoxaluria Type 1: Designing New Strategies in the Era of Promising Therapeutic Perspectives.
Treatment of primary hyperoxaluria type 1 with sequential liver and kidney transplants from the same living donor.
[From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene]
[Mechanisms and treatment of primary type I hyperoxaluria]
[OXALATE STONES ARE PREVALENT AMONG DRUZE AND MUSLIM ARABS IN THE GALILEE].
[Peroxisomal diseases--a survey]
Hypertension
Effects of AGXT2 variants on blood pressure and blood sugar among 750 older Japanese subjects recruited by the complete enumeration survey method.
Missense variants of the alanine: glyoxylate aminotransferase 2 gene correlated with carotid atherosclerosis in the Japanese population.
Infections
Alanine: Glyoxylate aminotransferase 1 is required for mobilization and utilization of triglycerides during infection process of the rice blast pathogen, Magnaporthe oryzae.
Ischemic Stroke
Associations of functional alanine-glyoxylate aminotransferase 2 gene variants with atrial fibrillation and ischemic stroke.
Ketosis
Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.
Kidney Calculi
Allele-specific Characterization of Alanine: Glyoxylate Aminotransferase Variants Associated with Primary Hyperoxaluria.
Crystal structure and confirmation of the alanine:glyoxylate aminotransferase activity of the YFL030w yeast protein.
Gut microbiota and oxalate homeostasis.
Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria.
Kidney Failure, Chronic
Liver transplantation for primary hyperoxaluria type 1: a single-center experience during two decades in Japan.
Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1.
Recurrent truncating mutations in alanine-glyoxylate aminotransferase gene in two South Indian families with primary hyperoxaluria type 1 causing later onset end-stage kidney disease.
The first experience of sequential liver-kidney transplantation for the treatment of primary hyperoxaluria type-1 in Iran as a developing country.
Lassa Fever
Lassa fever outcomes and prognostic factors in Nigeria (LASCOPE): a prospective cohort study.
Leukemia
Cluster analysis and phylogenetic relationship in biomarker identification of type 2 diabetes and nephropathy.
Liver Cirrhosis
Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in non-alcoholic fatty liver disease.
Liver Diseases
Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in non-alcoholic fatty liver disease.
HBV reactivation in allogeneic stem cell transplant recipients: Risk factors, outcome, and role of hepatitis B virus mutations.
Liver Failure
HBV reactivation in allogeneic stem cell transplant recipients: Risk factors, outcome, and role of hepatitis B virus mutations.
Metabolic Diseases
Primary hyperoxaluria type 1: An underestimated cause of nephrocalcinosis and chronic renal failure in Saudi Arabian children.
Neoplasms
AGXT2L1 is downregulated in carcinomas of the digestive system.
Identity of D-3-aminoisobutyrate-pyruvate aminotransferase with alanine-glyoxylate aminotransferase 2.
Nephrocalcinosis
Hydroxyproline metabolism in mouse models of primary hyperoxaluria.
Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure.
Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1.
Recurrence of primary hyperoxaluria after kidney transplantation.
Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology.
The first experience of sequential liver-kidney transplantation for the treatment of primary hyperoxaluria type-1 in Iran as a developing country.
The role of preemptive liver transplantation in primary hyperoxaluria type 1.
Nephrolithiasis
Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure.
Recurrence of primary hyperoxaluria after kidney transplantation.
Non-alcoholic Fatty Liver Disease
Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in non-alcoholic fatty liver disease.
Glycine-based treatment ameliorates NAFLD by modulating fatty acid oxidation, glutathione synthesis, and the gut microbiome.
Renal Insufficiency
Differential expression of liver and kidney proteins in a mouse model for primary hyperoxaluria type I.
Generation and characterization of a novel rat model of primary hyperoxaluria type 1 with a nonsense mutation in alanine-glyoxylate aminotransferase gene.
Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure.
Liver-kidney transplantation in primary hyperoxaluria type-1: case report and literature review.
Phenotypic Correction of a Mouse Model for Primary Hyperoxaluria With Adeno-associated Virus Gene Transfer.
Recurrence of primary hyperoxaluria after kidney transplantation.
Severe course of primary hyperoxaluria and renal failure after domino hepatic transplantation.
Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology.
Starvation
Identification of chicken liver mitochondrial alanine:2-oxoglutarate aminotransferase and its response to starvation.
Stroke
Genome-wide association study of L-arginine and dimethylarginines reveals novel metabolic pathway for symmetric dimethylarginine.
Urinary Bladder Calculi
Generation and characterization of a novel rat model of primary hyperoxaluria type 1 with a nonsense mutation in alanine-glyoxylate aminotransferase gene.
Urolithiasis
CRISPR/Cas9-mediated metabolic pathway reprogramming in a novel humanized rat model ameliorates primary hyperoxaluria type 1.
Generation and characterization of a novel rat model of primary hyperoxaluria type 1 with a nonsense mutation in alanine-glyoxylate aminotransferase gene.
Phenotypic Correction of a Mouse Model for Primary Hyperoxaluria With Adeno-associated Virus Gene Transfer.
Primary hyperoxaluria type 1 in Japan.
Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology.
The first experience of sequential liver-kidney transplantation for the treatment of primary hyperoxaluria type-1 in Iran as a developing country.
The role of preemptive liver transplantation in primary hyperoxaluria type 1.
Vascular Diseases
Effects of AGXT2 variants on blood pressure and blood sugar among 750 older Japanese subjects recruited by the complete enumeration survey method.
Vitamin B 6 Deficiency
Effect of vitamin B6 deficiency on glyoxylate metabolism in rats with or without glyoxylate overload.
Hepatic alanine-glyoxylate aminotransferase activity and oxalate metabolism in vitamin B6 deficient rats.
The effect of vitamin B6 deficiency on alanine: glyoxylate aminotransferase isoenzymes in rat liver.
Vitamin E Deficiency
Combined vitamin E deficiency and ethanol pretreatment: liver glutathione and enzyme changes.
Zellweger Syndrome
Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndrome.