Disease on EC 2.6.1.45 - serine-glyoxylate transaminase
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Genetic Diseases, Inborn
Crystallization and preliminary crystallographic analysis of human alanine:glyoxylate aminotransferase and its polymorphic variants.
Genetic Diseases, Inborn
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.
Hamartoma
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
Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: a novel type of primary hyperoxaluria.
Hyperoxaluria
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
Hyperoxaluria
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
Hyperoxaluria
Presentation and role of transplantation in adult patients with type 1 primary hyperoxaluria and the I244T AGXT mutation: Single-center experience.
Hyperoxaluria
Re-evaluation of conditions required for measurement of true alanine:glyoxylate aminotransferase activity in human liver: implications for the diagnosis of hyperoxaluria type I.
Hyperoxaluria
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.
Hyperoxaluria, Primary
A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1.
Hyperoxaluria, Primary
A novel mutation of human liver alanine:glyoxylate aminotransferase causes primary hyperoxaluria type 1: immunohistochemical quantification and subcellular distribution.
Hyperoxaluria, Primary
A semiautomated alanine:glyoxylate aminotransferase assay for the tissue diagnosis of primary hyperoxaluria type 1.
Hyperoxaluria, Primary
A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.
Hyperoxaluria, Primary
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.
Hyperoxaluria, Primary
Advances in the enzymology and molecular genetics of primary hyperoxaluria type 1. Prospects for gene therapy.
Hyperoxaluria, Primary
Alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting in human hereditary kidney stone disease.
Hyperoxaluria, Primary
Aminooxy acetic acid: a selective inhibitor of alanine:glyoxylate aminotransferase and its use in the diagnosis of primary hyperoxaluria type I.
Hyperoxaluria, Primary
An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.
Hyperoxaluria, Primary
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.
Hyperoxaluria, Primary
Biochemical and genetic diagnosis of the primary hyperoxalurias: a review.
Hyperoxaluria, Primary
Caenorhabditis elegans AGXT-1 is a mitochondrial and temperature-adapted ortholog of peroxisomal human AGT1: New insights into between-species divergence in glyoxylate metabolism.
Hyperoxaluria, Primary
Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase.
Hyperoxaluria, Primary
Combined liver-kidney transplantation for primary hyperoxaluria type 1 in young children.
Hyperoxaluria, Primary
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
Hyperoxaluria, Primary
Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.
Hyperoxaluria, Primary
Crystal structure and confirmation of the alanine:glyoxylate aminotransferase activity of the YFL030w yeast protein.
Hyperoxaluria, Primary
Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1.
Hyperoxaluria, Primary
Crystal structure of the S187F variant of human liver alanine: aminotransferase associated with primary hyperoxaluria type I and its functional implications.
Hyperoxaluria, Primary
Crystallization and preliminary crystallographic analysis of human alanine:glyoxylate aminotransferase and its polymorphic variants.
Hyperoxaluria, Primary
Cycloserine enantiomers are reversible inhibitors of human alanine:glyoxylate aminotransferase: implications for Primary Hyperoxaluria type 1.
Hyperoxaluria, Primary
Detection of AGXT bgene mutations by denaturing high-performance liquid chromatography for diagnosis of hyperoxaluria type 1.
Hyperoxaluria, Primary
Dimerization Drives Proper Folding of Human Alanine:Glyoxylate Aminotransferase But Is Dispensable for Peroxisomal Targeting.
Hyperoxaluria, Primary
Drug Library Screening for the Identification of Ionophores That Correct the Mistrafficking Disorder Associated with Oxalosis Kidney Disease.
Hyperoxaluria, Primary
Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1.
Hyperoxaluria, Primary
Effect of N-terminal alpha-helix formation on the dimerization and intracellular targeting of alanine:glyoxylate aminotransferase.
Hyperoxaluria, Primary
Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.
Hyperoxaluria, Primary
Enhanced vulnerability of human proteins towards disease-associated inactivation through divergent evolution.
Hyperoxaluria, Primary
Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.
Hyperoxaluria, Primary
Enzymological characterization of a feline analogue of primary hyperoxaluria type 2: a model for the human disease.
Hyperoxaluria, Primary
Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity.
Hyperoxaluria, Primary
Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.
Hyperoxaluria, Primary
Extraction of glyceric and glycolic acids from urine with tetrahydrofuran: utility in detection of primary hyperoxaluria.
Hyperoxaluria, Primary
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.
Hyperoxaluria, Primary
Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.
Hyperoxaluria, Primary
Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1.
Hyperoxaluria, Primary
Generation of induced pluripotent stem cells-derived hepatocyte-like cells for ex vivo gene therapy of primary hyperoxaluria type 1.
Hyperoxaluria, Primary
Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.
Hyperoxaluria, Primary
Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1.
Hyperoxaluria, Primary
Human liver peroxisomal alanine:glyoxylate aminotransferase: Characterization of the two allelic forms and their pathogenic variants.
Hyperoxaluria, Primary
Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: a novel type of primary hyperoxaluria.
Hyperoxaluria, Primary
Identification of new mutations in primary hyperoxaluria type 1 (PH1).
Hyperoxaluria, Primary
Immunological heterogeneity of hepatic alanine:glyoxylate aminotransferase in primary hyperoxaluria type 1.
Hyperoxaluria, Primary
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
Hyperoxaluria, Primary
In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis.
Hyperoxaluria, Primary
In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase.
Hyperoxaluria, Primary
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.
Hyperoxaluria, Primary
Late diagnosis of primary hyperoxaluria after failed kidney transplantation.
Hyperoxaluria, Primary
Late-onset primary hyperoxaluria triggered by hypothyroidism and presenting as rapidly progressive renal failure--description of a new mutation.
Hyperoxaluria, Primary
Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview.
Hyperoxaluria, Primary
Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.
Hyperoxaluria, Primary
Molecular and clinical heterogeneity in primary hyperoxaluria type 1.
Hyperoxaluria, Primary
Molecular etiology of primary hyperoxaluria type 1: new directions for treatment.
Hyperoxaluria, Primary
Molecular recognition of PTS-1 cargo proteins by Pex5p: implications for protein mistargeting in primary hyperoxaluria.
Hyperoxaluria, Primary
Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1.
Hyperoxaluria, Primary
Mutation-based diagnostic testing for primary hyperoxaluria type 1: survey of results.
Hyperoxaluria, Primary
Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1.
Hyperoxaluria, Primary
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
Hyperoxaluria, Primary
Natural and unnatural compounds rescue folding defects of human alanine:glyoxylate aminotransferase leading to Primary Hyperoxaluria Type I.
Hyperoxaluria, Primary
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.
Hyperoxaluria, Primary
Opposite effect of polymorphic mutations on the electrostatic aggregation of human alanine:glyoxylate aminotransferase: implications for the pathogenesis of Primary Hyperoxaluria Type I.
Hyperoxaluria, Primary
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.
Hyperoxaluria, Primary
Peroxisomal alanine:glyoxylate aminotransferase and prenatal diagnosis of primary hyperoxaluria type 1.
Hyperoxaluria, Primary
Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I.
Hyperoxaluria, Primary
Phenotypic expression of primary hyperoxaluria: comparative features of types I and II.
Hyperoxaluria, Primary
Polymorphisms in the alanine:glyoxylate aminotransferase gene and their application to the prenatal diagnosis of primary hyperoxaluria type 1.
Hyperoxaluria, Primary
Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.
Hyperoxaluria, Primary
Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria.
Hyperoxaluria, Primary
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2.
Hyperoxaluria, Primary
Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase.
Hyperoxaluria, Primary
Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase.
Hyperoxaluria, Primary
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
Hyperoxaluria, Primary
Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways.
Hyperoxaluria, Primary
Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).
Hyperoxaluria, Primary
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
Hyperoxaluria, Primary
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
Hyperoxaluria, Primary
Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.
Hyperoxaluria, Primary
Re: Cycloserine Enantiomers Are Reversible Inhibitors of Human Alanine:Glyoxylate Aminotransferase: Implications for Primary Hyperoxaluria Type 1.
Hyperoxaluria, Primary
Re: Pyridoxamine and Pyridoxal are More Effective than Pyridoxine in Rescuing Folding-Defective Variants of Human Alanine:Glyoxylate Aminotransferase Causing Primary Hyperoxaluria Type I.
Hyperoxaluria, Primary
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.
Hyperoxaluria, Primary
S81 L and G170R mutations causing Primary Hyperoxaluria Type I in homozygosis and heterozygosis: an example of positive interallelic complementation.
Hyperoxaluria, Primary
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
Hyperoxaluria, Primary
SNP Variants in RET and PAX2 and Their Possible Contribution to the Primary Hyperoxaluria Type 1 Phenotype.
Hyperoxaluria, Primary
Strategies for the prenatal diagnosis of primary hyperoxaluria type 1.
Hyperoxaluria, Primary
Structural and functional insights on the roles of molecular chaperones in the mistargeting and aggregation phenotypes associated with primary hyperoxaluria type I.
Hyperoxaluria, Primary
Structural implications of a G170R mutation of alanine:glyoxylate aminotransferase that is associated with peroxisome-to-mitochondrion mistargeting.
Hyperoxaluria, Primary
Successful treatment of primary hyperoxaluria type I by combined hepatic and renal transplantation.
Hyperoxaluria, Primary
The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.
Hyperoxaluria, Primary
The Chaperoning Activity of Amino-oxyacetic Acid on Folding-Defective Variants of Human Alanine:Glyoxylate Aminotransferase Causing Primary Hyperoxaluria Type I.
Hyperoxaluria, Primary
The ILE56 mutation on different genetic backgrounds of alanine: Glyoxylate aminotransferase: Clinical features and biochemical characterization.
Hyperoxaluria, Primary
The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.
Hyperoxaluria, Primary
The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1.
Hyperoxaluria, Primary
The molecular basis of alanine: glyoxylate aminotransferase mistargeting: the most common single cause of primary hyperoxaluria type 1.
Hyperoxaluria, Primary
The mouse alanine:glyoxylate aminotransferase gene (Agxt1): cloning, expression, and mapping to chromosome 1.
Hyperoxaluria, Primary
The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I.
Hyperoxaluria, Primary
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.
Kidney Calculi
Crystal structure and confirmation of the alanine:glyoxylate aminotransferase activity of the YFL030w yeast protein.
Kidney Calculi
Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1.
Kidney Calculi
Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.
Kidney Calculi
In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase.
Kidney Calculi
Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1.
Kidney Calculi
The ILE56 mutation on different genetic backgrounds of alanine: Glyoxylate aminotransferase: Clinical features and biochemical characterization.
Kidney Calculi
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.
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.
serine-glyoxylate transaminase deficiency
A mutant of Nicotiana sylvestris deficient in serine glyoxylate aminotransferase activity : Callus induction and photorespiratory toxicity in regenerated plants.
serine-glyoxylate transaminase deficiency
Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1.
serine-glyoxylate transaminase deficiency
Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I.
Urolithiasis
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
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