Literature DB >> 7849461

Molecular and cell biology of primary hyperoxaluria type 1.

C J Danpure1.   

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Year:  1994        PMID: 7849461     DOI: 10.1007/bf00213004

Source DB:  PubMed          Journal:  Clin Investig        ISSN: 0941-0198


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  9 in total

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

Authors:  P E Purdue; Y Takada; C J Danpure
Journal:  J Cell Biol       Date:  1990-12       Impact factor: 10.539

2.  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 3.  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

4.  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

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

Authors:  P E Purdue; M J Lumb; J Allsop; Y Minatogawa; C J Danpure
Journal:  Genomics       Date:  1992-05       Impact factor: 5.736

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

Authors:  P E Purdue; M J Lumb; J Allsop; C J Danpure
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

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

Authors:  Y Minatogawa; S Tone; J Allsop; P E Purdue; Y Takada; C J Danpur; R Kido
Journal:  Hum Mol Genet       Date:  1992-11       Impact factor: 6.150

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

Authors:  C J Danpure; P J Cooper; P J Wise; P R Jennings
Journal:  J Cell Biol       Date:  1989-04       Impact factor: 10.539

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

Authors:  K Nishiyama; T Funai; S Yokota; A Ichiyama
Journal:  J Cell Biol       Date:  1993-12       Impact factor: 10.539

  9 in total
  3 in total

Review 1.  Oxalate crystal deposition disease.

Authors:  Irama Maldonado; Vineet Prasad; Antonio J Reginato
Journal:  Curr Rheumatol Rep       Date:  2002-06       Impact factor: 4.592

2.  Skeletal features of primary hyperoxaluria type 1, revisited.

Authors:  Samer El Hage; Ismat Ghanem; André Baradhi; Chebel Mourani; Samir Mallat; Fernand Dagher; Khalil Kharrat
Journal:  J Child Orthop       Date:  2008-02-15       Impact factor: 1.548

3.  High throughput cell-based assay for identification of glycolate oxidase inhibitors as a potential treatment for Primary Hyperoxaluria Type 1.

Authors:  Mengqiao Wang; Miao Xu; Yan Long; Sonia Fargue; Noel Southall; Xin Hu; John C McKew; Christopher J Danpure; Wei Zheng
Journal:  Sci Rep       Date:  2016-09-27       Impact factor: 4.379

  3 in total

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