Literature DB >> 1301173

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

Y Minatogawa1, S Tone, J Allsop, P E Purdue, Y Takada, C J Danpur, R Kido.   

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Year:  1992        PMID： 1301173     DOI： 10.1093/hmg/1.8.643

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  9 in total

1.  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

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

Authors:  C von Schnakenburg; G Rumsby
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

Review 3.  Molecular and cell biology of primary hyperoxaluria type 1.

Authors:  C J Danpure
Journal:  Clin Investig       Date:  1994-09

4.  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 5.  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

6.  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

7.  A novel mutation of human liver alanine:glyoxylate aminotransferase causes primary hyperoxaluria type 1: immunohistochemical quantification and subcellular distribution.

Authors:  Chikage Kawai; Yohsuke Minatogawa; Hidetaka Akiyoshi; Shinichi Hirose; Tsunatoshi Suehiro; Shigenobu Tone
Journal:  Acta Histochem Cytochem       Date:  2012-03-10       Impact factor: 1.938

8.  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.

Authors:  Elisa Oppici; Riccardo Montioli; Antonio Lorenzetto; Silvia Bianconi; Carla Borri Voltattorni; Barbara Cellini
Journal:  Mol Genet Metab       Date:  2011-10-05       Impact factor: 4.797

9.  Crystal structure of the S187F variant of human liver alanine: glyoxylate [corrected] aminotransferase associated with primary hyperoxaluria type I and its functional implications.

Authors:  Elisa Oppici; Krisztian Fodor; Alessandro Paiardini; Chris Williams; Carla Borri Voltattorni; Matthias Wilmanns; Barbara Cellini
Journal:  Proteins       Date:  2013-06-01
  9 in total

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