A serine-to-phenylalanine substitution leads t... [Hum Mol Genet. 1992] - PubMed

Supplemental Content

Save items

Related citations in PubMed

Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. [J Cell Biol. 1990]
Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.
Purdue PE, Takada Y, Danpure CJ. J Cell Biol. 1990 Dec; 111(6 Pt 1):2341-51.
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. [Proc Natl Acad Sci U S A. 1991]
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.
Purdue PE, Allsop J, Isaya G, Rosenberg LE, Danpure CJ. Proc Natl Acad Sci U S A. 1991 Dec 1; 88(23):10900-4.
Review [Molecular pathology of type 1 primary hyperoxaluria]. [Nephrologie. 1994]
Review [Molecular pathology of type 1 primary hyperoxaluria].
Cochat P, Rolland MO, Bozon D, Dumontel C, Divry P. Nephrologie. 1994; 15(6):375-80.
Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon. [Biochem J. 1990]
Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon.
Takada Y, Kaneko N, Esumi H, Purdue PE, Danpure CJ. Biochem J. 1990 Jun 1; 268(2):517-20.
Review Energy-dependent degradation of a mutant serine: pyruvate/alanin: glyoxylate aminotransferase in a primary hyperoxaluria type 1 case. [Adv Exp Med Biol. 1996]
Review Energy-dependent degradation of a mutant serine: pyruvate/alanin: glyoxylate aminotransferase in a primary hyperoxaluria type 1 case.
Suzuki T, Nishiyama K, Funai T, Tanaka K, Ichihara A, Ichiyama A. Adv Exp Med Biol. 1996; 389:137-40.

See reviews... See all...

Cited by 4 PubMed Central articles

A novel mutation of human liver alanine:glyoxylate aminotransferase causes primary hyperoxaluria type 1: immunohistochemical quantification and subcellular distribution. [Acta Histochem Cytochem. 2012]
A novel mutation of human liver alanine:glyoxylate aminotransferase causes primary hyperoxaluria type 1: immunohistochemical quantification and subcellular distribution.
Kawai C, Minatogawa Y, Akiyoshi H, Hirose S, Suehiro T, Tone S. Acta Histochem Cytochem. 2012 Apr 26; 45(2):121-9. Epub 2012 Mar 10.
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. [Mol Genet Metab. 2012]
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.
Oppici E, Montioli R, Lorenzetto A, Bianconi S, Borri Voltattorni C, Cellini B. Mol Genet Metab. 2012 Jan; 105(1):132-40. Epub 2011 Oct 5.
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene. [J Med Genet. 1997]
Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
von Schnakenburg C, Rumsby G. J Med Genet. 1997 Jun; 34(6):489-92.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide
Primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate amino...
A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.
Hum Mol Genet. 1992 Nov ;1(8):643-4.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.

Source

Publication Types, MeSH Terms, Substances, Secondary Source ID

Publication Types

MeSH Terms

Substances

Secondary Source ID

LinkOut - more resources

Full Text Sources

Medical

Molecular Biology Databases

Supplemental Content

Save items

Related citations in PubMed

Cited by 4 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information