(Q28144619)

English

Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations

scientific article (publication date: 17 November 2000)

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scholarly article

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Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations (English)

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author name string

M J Lumb

1

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C J Danpure

2

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language of work or name

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publication date

17 November 2000

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Journal of Biological Chemistry

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275

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46

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36415-22

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Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

1 reference

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21 January 2018

Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1

1 reference

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21 January 2018

Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1

1 reference

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21 January 2018

An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Inhibition of alanine:glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1.

1 reference

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21 January 2018

ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case

1 reference

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21 January 2018

Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon

1 reference

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21 January 2018

Mammalian alanine/glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisome-to-mitochondrion mistargeti

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M006693200

21 January 2018

Further studies on the activity and subcellular distribution of alanine: Glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M006693200

21 January 2018

Chemistry for the analysis of protein-protein interactions: rapid and efficient cross-linking triggered by long wavelength light

1 reference

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21 January 2018

Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene

1 reference

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21 January 2018

A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1

1 reference

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21 January 2018

Pyridoxal 5'-phosphate binding of a recombinant rat serine: pyruvate/alanine:glyoxylate aminotransferase.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M006693200

21 January 2018

Nucleotide sequence of the cDNA encoding the precursor for mitochondrial serine:pyruvate aminotransferase of rat liver

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M006693200

21 January 2018

Unexpected influence of a C-terminal-fused His-tag on the processing of an enzyme and on the kinetic and folding parameters

1 reference

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21 January 2018

An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M006693200

21 January 2018

Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene.

1 reference

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21 January 2018

Molecular adaptation of alanine:glyoxylate aminotransferase targeting in primates

1 reference

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21 January 2018

Molecular evolution of alanine/glyoxylate aminotransferase 1 intracellular targeting. Analysis of the marmoset and rabbit genes

1 reference

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21 January 2018

Variable peroxisomal and mitochondrial targeting of alanine: glyoxylate aminotransferase in mammalian evolution and disease

1 reference

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21 January 2018

Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism

1 reference

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21 January 2018

Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M006693200

21 January 2018

Peroxisomal localization of alanine: Glyoxylate aminotransferase in human liver

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M006693200

21 January 2018

Subcellular distribution, and physical and immunological properties of hepathic alanine: Glyoxylate aminotransferase isoenzymes in different mammalian species

1 reference

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21 January 2018

Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT)

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M006693200

21 January 2018

Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M006693200

21 January 2018

Effect of N-terminal alpha-helix formation on the dimerization and intracellular targeting of alanine:glyoxylate aminotransferase

1 reference

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21 January 2018

A semiautomated alanine:glyoxylate aminotransferase assay for the tissue diagnosis of primary hyperoxaluria type 1

1 reference

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21 January 2018

Human liver L-alanine-glyoxylate aminotransferase: characteristics and activity in controls and hyperoxaluria type I patients using a simple spectrophotometric method

1 reference

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21 January 2018

The organ distribution of human alanine-2-oxoglutarate aminotransferase and alanine-glyoxylate aminotransferase

1 reference

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21 January 2018

A new micro-assay for human liver alanine: glyoxylate aminotransferase

1 reference

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21 January 2018

Flux of the L-serine metabolism in rabbit, human, and dog livers. Substantial contributions of both mitochondrial and peroxisomal serine:pyruvate/alanine:glyoxylate aminotransferase

1 reference

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21 January 2018

Aminooxy acetic acid: a selective inhibitor of alanine:glyoxylate aminotransferase and its use in the diagnosis of primary hyperoxaluria type I

1 reference

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The cause of idiopathic calcium stone disease: hypercalciuria or hyperoxaluria?

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Identifiers

10.1074/JBC.M006693200

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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