Literature DB >> 3709805

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I.

C J Danpure, P R Jennings.   

Abstract

Activities of alanine:glyoxylate aminotransferase in the livers of two patients with primary hyperoxaluria type I were substantially lower than those found in five control human livers. Detailed subcellular fractionation of one of the hyperoxaluric livers, compared with a control liver, showed that there was a complete absence of peroxisomal alanine:glyoxylate aminotransferase. This enzyme deficiency explains most of the biochemical characteristics of the disease and means that primary hyperoxaluria type I should be added to the rather select list of peroxisomal disorders.

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Year:  1986        PMID： 3709805     DOI： 10.1016/0014-5793(86)80563-4

Source DB:  PubMed          Journal:  FEBS Lett        ISSN： 0014-5793            Impact factor:   4.124


  93 in total

1.  Gene expression in the normal adult human kidney assessed by complementary DNA microarray.

Authors:  John P T Higgins; Lingli Wang; Neeraja Kambham; Kelli Montgomery; Veronica Mason; Stefanie U Vogelmann; Kevin V Lemley; Patrick O Brown; James D Brooks; Matt van de Rijn
Journal:  Mol Biol Cell       Date:  2003-12-02       Impact factor: 4.138

2.  The many roles of oxalate in nature.

Authors:  Lynwood H Smith
Journal:  Trans Am Clin Climatol Assoc       Date:  2002

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

Authors:  A C Tarn; C von Schnakenburg; G Rumsby
Journal:  J Inherit Metab Dis       Date:  1997-09       Impact factor: 4.982

4.  Urinary oxalate and glycolate excretion and plasma oxalate concentration.

Authors:  T M Barratt; G P Kasidas; I Murdoch; G A Rose
Journal:  Arch Dis Child       Date:  1991-04       Impact factor: 3.791

5.  Excessive urinary oxalate excretion after combined renal and hepatic transplantation for correction of hyperoxaluria type 1.

Authors:  H Ruder; G Otto; R B Schutgens; U Querfeld; R J Wanders; K H Herzog; P Wölfel; S Pomer; K Schärer; G A Rose
Journal:  Eur J Pediatr       Date:  1990-11       Impact factor: 3.183

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

Authors:  C J Danpure; G M Birdsey; G Rumsby; M J Lumb; P E Purdue; J Allsop
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

Review 7.  Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity.

Authors:  C J Danpure; P R Jennings; P Fryer; P E Purdue; J Allsop
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

8.  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.

Authors:  Sonia Fargue; Jackie Lewin; Gill Rumsby; Christopher J Danpure
Journal:  J Biol Chem       Date:  2012-12-10       Impact factor: 5.157

9.  HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.

Authors:  Saoussen M'dimegh; Cécile Aquaviva-Bourdain; Asma Omezzine; Geneviéve Souche; Ibtihel M'barek; Kamel Abidi; Tahar Gargah; Saoussen Abroug; Ali Bouslama
Journal:  J Clin Lab Anal       Date:  2016-08-26       Impact factor: 2.352

10.  Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.

Authors:  C J Danpure; P E Purdue; P Fryer; S Griffiths; J Allsop; M J Lumb; K M Guttridge; P R Jennings; J I Scheinman; S M Mauer
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025
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