| 1 | AGXT, PHXL1
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| Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
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| Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G.
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| Hum Mutat 30(6):910-7. Review. 2009
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| 2 | AGXT
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| Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
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| Williams E, Rumsby G.
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| Clin Chem 53(7):1216-21. Epub 2007 May 10.
2007
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| 3 | AGXT, PHXL1
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| Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.
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| Coulter-Mackie MB, Lian Q.
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| Mol Genet Metab 89(4):349-59. Epub 2006 Sep 12. 2006
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| 4 | AGXT
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| Peroxisomal import of human alanine:glyoxylate aminotransferase requires ancillary targeting information remote from its C terminus.
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| Huber PA, Birdsey GM, Lumb MJ, Prowse DT, Perkins TJ, Knight DR, Danpure CJ.
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| J Biol Chem 280(29):27111-20. Epub 2005 May 23. 2005
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| 5 | AGXT, PHXL1
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| Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.
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| Yuen YP, Lai CK, Tong GM, Wong PN, Wong FK, Mak SK, Lo KY, Wong AK, Tong SF, Chan YW, Lam CW.
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| J Nephrol 17(3):436-40. 2004
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| 6 | AGXT, PHXL1
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| Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene.
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| Pirulli D, et al.
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| Hum Genet 104(6):523-5. 1999
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| 7 | AGXT, PHXL1
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| Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
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| von Schnakenburg C, Rumsby G.
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| J Med Genet 34(6):489-92. 1997
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| 8 | AGXT, PHXL1
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| Linkage of microsatellites to the AGXT gene on chromosome 2q37.3 and their role in prenatal diagnosis of primary hyperoxaluria type 1.
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| von Schnakenburg C, Weir T, Rumsby G.
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| Ann Hum Genet 61(Pt 4):365-8. 1997
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| 9 | AGXT, PHXL1
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| Primary hyperoxaluria type 1: diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).
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| Tarn AC, von Schnakenburg C, Rumsby G.
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| J Inherit Metab Dis 20(5):689-96. 1997
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| 10 | AGXT
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| Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine : glyoxylate aminotransferase gene.
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| Danpure CJ, et al.
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| Hum Genet 94 : 55-64. 1994
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| 11 | AGXT
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| A glycine-to-glutamate substitution abolishes alanine : glyoxylate aminotransferase catalytic activity in a subset of patients with primary hypreroxyluria type 1.
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| Purdue PE, et al.
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| Genomics 13 : 215-218. 1992
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| 12 | AGXT
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| TaqI polymorphism at the alanine : glyoxylate aminotransferase (AGXT) gene locus.
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| Rumsby G, et al.
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| Hum Mol Genet 1 : 350. 1992
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| 13 | AGXT
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| A serine-to-phenylalanine substitution leads to loss of alanine : glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1.
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| Minatogawa Y, et al.
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| Hum Mol Genet 1 : 643-644. 1992
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| 14 | AGXT
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| Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine : pyruvate aminotransferase gene.
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| Nishiyama K, et al.
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| Biochem Biophys Res Commun 176 : 1093-1099. 1991
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| 15 | AGXT
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| An intronic duplication in the alanine : glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.
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| Purdue PE, et al.
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| Hum Genet 87 : 394-396. 1991
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| 16 | AGXT
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| 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.
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| Purdue PE, et al.
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| Proc Natl Acad Sci U S A 88 : 10900-10904. 1991
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| 17 | AGXT
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| Characterization and chromosomal mapping of a genomic clone encoding alanine : glyoxylate aminotransferase.
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| Purdue PE, et al.
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| Genomics 10 : 34-42. 1991
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| 18 | AGXT
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| Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxularia type 1.
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| Purdue PE, et al.
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| J Cell Biol 111 : 2341-2351. 1990
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| 19 | AGXT
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| Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon.
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| Takada Y, Kaneko N, Esumi H, Purdue PE, Danpure CJ.
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| Biochem J 268(2):517-20. 1990
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| 20 | AGXT
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| Cloning and nucleotide sequence of cDNA encoding human liver serine-pyruvate aminotransferase.
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| Nishiyama K, Berstein G, Oda T, Ichiyama A.
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| Eur J Biochem 194(1):9-18. 1990
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| 21 | AGXT
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| An enzyme trafficking defect in two patients with primary hyperoxaluria type 1 : peroxisomal allanine/glyoxylate aminotransferase rerouted to mitochondria.
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| Danpure CJ, et al.
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| J Cell Biol 108 : 1345-1352. 1989
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| 22 | AGXT, PHXL1
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| Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I.
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| Danpure CJ, Jennings PR.
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| FEBS Lett 201(1):20-4. 1986
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