Search Results - "DANPURE, C. J"

Functional Synergism between the Most Common Polymorphism in Human Alanine:Glyoxylate Aminotransferase and Four of the Most Common Disease-causing Mutations by Lumb, Michael J., Danpure, Christopher J.

“…The autosomal recessive disorder primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver-specific pyridoxal-phosphate-dependent enzyme…”
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Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment by COCHAT, Pierre, HULTON, Sally-Anne, JAMIESON, Neville V, KEMPER, Markus J, MANDRILE, Giorgia, MARANGELLA, Martino, PICCA, Stefano, RUMSBY, Gill, SALIDO, Eduardo, STRAUB, Michael, WOERDEN, Christiaan S. Van, ACQUAVIVA, Cecile, DANPURE, Christopher J, DAUDON, Michel, DE MARCHI, Mario, FARGUE, Sonia, GROOTHOFF, Jaap, HARAMBAT, Jerome, HOPPE, Bernd

“…Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme…”
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A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: lack of relationship between genotype, enzymic phenotype, and disease severity by Hoppe, B, Danpure, C J, Rumsby, G, Fryer, P, Jennings, P R, Blau, N, Schubiger, G, Neuhaus, T, Leumann, E

“…Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a deficiency of alanine:glyoxylate aminotransferase (encoded by the AGXT…”
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Advances in the enzymology and molecular genetics of primary hyperoxaluria type 1. Prospects for gene therapy by Danpure, C J

“…Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inborn error of glyoxylate metabolism caused by a deficiency of the liver-specific peroxisomal…”
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Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I by Danpure, C.J., Jennings, P.R

“…Activities of alanine:glyoxylate aminotransferase in the livers of two patients with primary hyperoxaluria type I were substantially lower than those found in…”
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Genetic disorders and urolithiasis by Danpure, C J

“…A recent analysis of the McKusick's On-Line Mendelian Inheritance in Man (OMIM) database revealed over 30 genetic or putatively genetic conditions in which…”
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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 by Purdue, P. E., Allsop, J., Isaya, G., Rosenberg, L. E., Danpure, C. J.

“…In approximately one-third of primary hyperoxaluria type 1 patients, disease is associated with a unique protein sorting defect in which hepatic…”
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Variable peroxisomal and mitochondrial targeting of alanine: glyoxylate aminotransferase in mammalian evolution and disease by Danpure, C J

“…Under the putative influence of dietary selection pressure, the subcellular distribution of alanine:glyoxylate aminotransferase 1 (AGT) has changed on many…”
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Primary hyperoxaluria type 1: Genotypic and phenotypic heterogeneity by Danpure, C. J., Jennings, P. R., Fryer, P., Purdue, P. E., Allsop, J.

“…Summary Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disease caused by a deficiency of the liver‐specific peroxisomal enzyme alanine:…”
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Identification of Mutations Associated with Peroxisome-to-Mitochondrion Mistargeting of Alanine/Glyoxylate Aminotransferase in Primary Hyperoxaluria Type 1 by Purdue, P. Edward, Takada, Yoshikazu, Danpure, Christopher J.

“…We have previously shown that in some patients with primary hyperoxaluria type 1 (PH1), disease is associated with mistargeting of the normally peroxisomal…”
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Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation by DANPURE, C. J, PURDUE, P. E, DAVIDSON, N. O, FRYER, P, GRIFFITHS, S, ALLSOP, J, LUMB, M. J, GUTTRIDGE, K. M, JENNINGS, P. R, SCHEINMAN, J. I, MAUER, S. M

“…Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate…”
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Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon by Takada, Y, Kaneko, N, Esumi, H, Purdue, P E, Danpure, C J

“…The amino acid sequence of human hepatic peroxisomal L-alanine: glyoxylate aminotransferase 1 (AGTI) deduced from cDNA shows 78% sequence identity with that of…”
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Molecular and clinical heterogeneity in primary hyperoxaluria type 1 by Danpure, C J

“…The autosomal recessive disease primary hyperoxaluria type 1 (PH1) is caused by a functional deficiency of the liver-specific peroxisomal enzyme…”
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The peroxisomal targeting sequence type 1 receptor, Pex5p, and the peroxisomal import efficiency of alanine:glyoxylate aminotransferase by Knott, T G, Birdsey, G M, Sinclair, K E, Gallagher, I M, Purdue, P E, Danpure, C J

“…Unlike most organellar proteins, some peroxisomal proteins are often found in significant amounts in the cytosol. Such apparent import inefficiency is very…”
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Crystallization and preliminary crystallographic analysis of human alanine:glyoxylate aminotransferase and its polymorphic variants by Zhang, Xiaoxuan, Roe, S. Mark, Pearl, Laurence H., Danpure, Christopher J.

“…The human hereditary disease primary hyperoxaluria type 1 is caused by a deficiency of the liver‐specific peroxisomal enzyme alanine:glyoxylate…”
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Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase by Purdue, P E, Lumb, M J, Fox, M, Griffo, G, Hamon-Benais, C, Povey, S, Danpure, C J

“…We have previously reported the isolation of a genomic clone encoding human liver-specific peroxisomal alanine:glyoxylate aminotransferase (AGT, EC 2.6.1.44),…”
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Evolution of alanine:glyoxylate aminotransferase 1 peroxisomal and mitochondrial targeting. A survey of its subcellular distribution in the livers of various representatives of the classes Mammalia, Aves and Amphibia by Danpure, C J, Fryer, P, Jennings, P R, Allsop, J, Griffiths, S, Cunningham, A

“…As part of a wider study on the molecular evolution of alanine:glyoxylate aminotransferase 1 (AGT1) intracellular compartmentalization, we have determined the…”
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Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase by Danpure, C J

“…Under the influence of dietary selection pressure, the intracellular compartmentalization of alanine:glyoxylate aminotransferase (AGT) has changed on many…”
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STRATEGIES FOR THE PRENATAL DIAGNOSIS OF PRIMARY HYPEROXALURIA TYPE 1 by DANPURE, CHRISTOPHER J., RUMSBY, GILLIAN

“…Primary hyperoxaluria type 1 (PH1) is a potentially lethal autosomal recessive disorder of glyoxylate metabolism caused by a deficiency of the liver‐specific…”
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Crystal Structure of Alanine:Glyoxylate Aminotransferase and the Relationship Between Genotype and Enzymatic Phenotype in Primary Hyperoxaluria Type 1 by Zhang, Xiaoxuan, Mark Roe, S., Hou, Yanwen, Bartlam, Mark, Rao, Zihe, Pearl, Laurence H., Danpure, Christopher J.

“…A deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase (AGT) is responsible for the potentially lethal hereditary kidney stone disease…”
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