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Disease on EC 2.6.1.45 - serine-glyoxylate transaminase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Genetic Diseases, Inborn
Crystallization and preliminary crystallographic analysis of human alanine:glyoxylate aminotransferase and its polymorphic variants.
Effect of N-terminal alpha-helix formation on the dimerization and intracellular targeting of alanine:glyoxylate aminotransferase.
Hamartoma
Salivary gland anlage tumor ("congenital pleomorphic adenoma"). A clinicopathologic, immunohistochemical and ultrastructural study of nine cases.
Salivary gland anlage tumor: molecular profiling sheds light on a morphologic question.
Hyperoxaluria
Combined liver-kidney transplantation for primary hyperoxaluria type 1 in young children.
Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: a novel type of primary hyperoxaluria.
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience.
Re-evaluation of conditions required for measurement of true alanine:glyoxylate aminotransferase activity in human liver: implications for the diagnosis of hyperoxaluria type I.
Selective renal transplantation in primary hyperoxaluria type 1.
Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.
Hyperoxaluria, Primary
A double mutation in AGXT gene in families with primary hyperoxaluria type 1.
A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1.
A novel mutation of human liver alanine:glyoxylate aminotransferase causes primary hyperoxaluria type 1: immunohistochemical quantification and subcellular distribution.
A semiautomated alanine:glyoxylate aminotransferase assay for the tissue diagnosis of primary hyperoxaluria type 1.
A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.
A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity.
Advances in the enzymology and molecular genetics of primary hyperoxaluria type 1. Prospects for gene therapy.
Alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting in human hereditary kidney stone disease.
Aminooxy acetic acid: a selective inhibitor of alanine:glyoxylate aminotransferase and its use in the diagnosis of primary hyperoxaluria type I.
An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.
Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with Primary Hyperoxaluria Type I.
Biochemical and genetic diagnosis of the primary hyperoxalurias: a review.
Caenorhabditis elegans AGXT-1 is a mitochondrial and temperature-adapted ortholog of peroxisomal human AGT1: New insights into between-species divergence in glyoxylate metabolism.
Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase.
Combined liver-kidney transplantation for primary hyperoxaluria type 1 in young children.
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.
Crystal structure and confirmation of the alanine:glyoxylate aminotransferase activity of the YFL030w yeast protein.
Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1.
Crystal structure of the S187F variant of human liver alanine: aminotransferase associated with primary hyperoxaluria type I and its functional implications.
Crystallization and preliminary crystallographic analysis of human alanine:glyoxylate aminotransferase and its polymorphic variants.
Cycloserine enantiomers are reversible inhibitors of human alanine:glyoxylate aminotransferase: implications for Primary Hyperoxaluria type 1.
Detection of AGXT bgene mutations by denaturing high-performance liquid chromatography for diagnosis of hyperoxaluria type 1.
Dimerization Drives Proper Folding of Human Alanine:Glyoxylate Aminotransferase But Is Dispensable for Peroxisomal Targeting.
Drug Library Screening for the Identification of Ionophores That Correct the Mistrafficking Disorder Associated with Oxalosis Kidney Disease.
Early and unusual presentation of type I primary hyperoxaluria.
Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1.
Effect of N-terminal alpha-helix formation on the dimerization and intracellular targeting of alanine:glyoxylate aminotransferase.
Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.
Enhanced vulnerability of human proteins towards disease-associated inactivation through divergent evolution.
Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.
Enzymological characterization of a feline analogue of primary hyperoxaluria type 2: a model for the human disease.
Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity.
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.
Extraction of glyceric and glycolic acids from urine with tetrahydrofuran: utility in detection of primary hyperoxaluria.
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.
Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.
Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1.
Generation of induced pluripotent stem cells-derived hepatocyte-like cells for ex vivo gene therapy of primary hyperoxaluria type 1.
Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.
Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1.
Human liver peroxisomal alanine:glyoxylate aminotransferase: Characterization of the two allelic forms and their pathogenic variants.
Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: a novel type of primary hyperoxaluria.
Identification of new mutations in primary hyperoxaluria type 1 (PH1).
Immunological heterogeneity of hepatic alanine:glyoxylate aminotransferase in primary hyperoxaluria type 1.
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis.
In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase.
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.
Late diagnosis of primary hyperoxaluria after failed kidney transplantation.
Late-onset primary hyperoxaluria triggered by hypothyroidism and presenting as rapidly progressive renal failure--description of a new mutation.
Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview.
Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.
Molecular aetiology of primary hyperoxaluria type 1.
Molecular and clinical heterogeneity in primary hyperoxaluria type 1.
Molecular etiology of primary hyperoxaluria type 1: new directions for treatment.
Molecular insights into primary hyperoxaluria Type I pathogenesis.
Molecular recognition of PTS-1 cargo proteins by Pex5p: implications for protein mistargeting in primary hyperoxaluria.
Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1.
Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.
Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
Natural and unnatural compounds rescue folding defects of human alanine:glyoxylate aminotransferase leading to Primary Hyperoxaluria Type I.
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.
Opposite effect of polymorphic mutations on the electrostatic aggregation of human alanine:glyoxylate aminotransferase: implications for the pathogenesis of Primary Hyperoxaluria Type I.
Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants.
Peroxisomal alanine:glyoxylate aminotransferase and prenatal diagnosis of primary hyperoxaluria type 1.
Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I.
Phenotypic expression of primary hyperoxaluria: comparative features of types I and II.
Polymorphisms in the alanine:glyoxylate aminotransferase gene and their application to the prenatal diagnosis of primary hyperoxaluria type 1.
Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.
Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria.
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2.
Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase.
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: a cluster of new mutations in exon 7 of the AGXT gene.
Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways.
Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
Primary hyperoxaluria type 1: strategy for organ transplantation.
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
Primary hyperoxaluria type 2.
Primary hyperoxaluria type I.
Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.
Re: Cycloserine Enantiomers Are Reversible Inhibitors of Human Alanine:Glyoxylate Aminotransferase: Implications for Primary Hyperoxaluria Type 1.
Re: Pyridoxamine and Pyridoxal are More Effective than Pyridoxine in Rescuing Folding-Defective Variants of Human Alanine:Glyoxylate Aminotransferase Causing Primary Hyperoxaluria Type I.
Renal transplantation in a child with primary oxalosis.
Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria.
S81 L and G170R mutations causing Primary Hyperoxaluria Type I in homozygosis and heterozygosis: an example of positive interallelic complementation.
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
SNP Variants in RET and PAX2 and Their Possible Contribution to the Primary Hyperoxaluria Type 1 Phenotype.
Strategies for the prenatal diagnosis of primary hyperoxaluria type 1.
Structural and functional insights on the roles of molecular chaperones in the mistargeting and aggregation phenotypes associated with primary hyperoxaluria type I.
Structural implications of a G170R mutation of alanine:glyoxylate aminotransferase that is associated with peroxisome-to-mitochondrion mistargeting.
Successful treatment of primary hyperoxaluria type I by combined hepatic and renal transplantation.
The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.
The Chaperoning Activity of Amino-oxyacetic Acid on Folding-Defective Variants of Human Alanine:Glyoxylate Aminotransferase Causing Primary Hyperoxaluria Type I.
The ILE56 mutation on different genetic backgrounds of alanine: Glyoxylate aminotransferase: Clinical features and biochemical characterization.
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 mouse alanine:glyoxylate aminotransferase gene (Agxt1): cloning, expression, and mapping to chromosome 1.
The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I.
Use of polymer conjugates for the intraperoxisomal delivery of engineered human alanine:glyoxylate aminotransferase as a protein therapy for primary hyperoxaluria type I.
Infections
RabGAP22 is required for defense to the vascular pathogen Verticillium longisporum and contributes to stomata immunity.
Kidney Calculi
Alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting in human hereditary kidney stone disease.
Crystal structure and confirmation of the alanine:glyoxylate aminotransferase activity of the YFL030w yeast protein.
Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1.
Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.
In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase.
Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1.
The ILE56 mutation on different genetic backgrounds of alanine: Glyoxylate aminotransferase: Clinical features and biochemical characterization.
Variability in Kidney Stone Incidence Between Black and White South Africans: AGT Pro11Leu Polymorphism Is Not a Factor.
Kidney Diseases
SNP Variants in RET and PAX2 and Their Possible Contribution to the Primary Hyperoxaluria Type 1 Phenotype.
Neoplasms
Salivary gland anlage tumor: molecular profiling sheds light on a morphologic question.
Nephrocalcinosis
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
Nephrolithiasis
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.
Peroxisomal Disorders
Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways.
Renal Insufficiency
Combined liver-kidney transplantation for primary hyperoxaluria type 1 in young children.
Renal transplantation in a child with primary oxalosis.
serine-glyoxylate transaminase deficiency
A mutant of Nicotiana sylvestris deficient in serine glyoxylate aminotransferase activity : Callus induction and photorespiratory toxicity in regenerated plants.
Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1.
Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I.
Urolithiasis
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.