Search Results - "DANPURE, CHRISTOPHER J."

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 by Fargue, Sonia, Lewin, Jackie, Rumsby, Gill, Danpure, Christopher J.

“…The gene encoding the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT, EC. 2.6.1.44) exists as two common polymorphic variants…”
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Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways by Danpure, Christopher J.

“…Primary hyperoxaluria type 1 (PH1) is an atypical peroxisomal disorder, as befits a deficiency of alanine:glyoxylate aminotransferase (AGT), which is itself an…”
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Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1 by Miyata, Non, Steffen, Janos, Johnson, Meghan E., Fargue, Sonia, Danpure, Christopher J., Koehler, Carla M.

“…Significance The lethal disorder, primary hyperoxaluria 1 (PH1), is caused by mutations in peroxisomal-localized alanine:glyoxylate aminotransferase (AGT). AGT…”
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The N-terminal extension is essential for the formation of the active dimeric structure of liver peroxisomal alanine:glyoxylate aminotransferase by Montioli, Riccardo, Fargue, Sonia, Lewin, Jackie, Zamparelli, Carlotta, Danpure, Christopher J., Borri Voltattorni, Carla, Cellini, Barbara

“…Alanine:glyoxylate aminotransferase (AGT) is a pyridoxal-phosphate (PLP)-dependent enzyme. Its deficiency causes the hereditary kidney stone disease primary…”
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Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1 by Fargue, Sonia, Rumsby, Gill, Danpure, Christopher J.

“…Primary hyperoxaluria type 1 (PH1) is a rare hereditary calcium oxalate kidney stone disease caused by a deficiency of the liver-specific…”
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Molecular etiology of primary hyperoxaluria type 1: new directions for treatment by Danpure, Christopher J

“…Primary hyperoxaluria type 1 (PH1) is a rare autosomal-recessive disorder caused by a deficiency of the liver-specific enzyme alanine:glyoxylate…”
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Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells by Behnam, Joseph T, Williams, Emma L, Brink, Susanne, Rumsby, Gill, Danpure, Christopher J

“…Failure to detoxify the intermediary metabolite glyoxylate in human hepatocytes underlies the metabolic pathology of two potentially lethal hereditary calcium…”
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Primary hyperoxaluria: from gene defects to designer drugs? by DANPURE, Christopher J

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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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Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I by Oppici, Elisa, Fargue, Sonia, Reid, Emma S, Mills, Philippa B, Clayton, Peter T, Danpure, Christopher J, Cellini, Barbara

“…Vitamin B6 in the form of pyridoxine (PN) is one of the most widespread pharmacological therapies for inherited diseases involving pyridoxal phosphate…”
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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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Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay by Fargue, Sonia, Knight, John, Holmes, Ross P., Rumsby, Gill, Danpure, Christopher J.

“…The hereditary kidney stone disease primary hyperoxaluria type 1 (PH1) is caused by a functional deficiency of the liver-specific, peroxisomal,…”
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A comparative analysis of the evolutionary relationship between diet and enzyme targeting in bats, marsupials and other mammals by Birdsey, Graeme M, Lewin, Jackie, Holbrook, Joanna D, Simpson, Victor R, Cunningham, Andrew A, Danpure, Christopher J

“…The subcellular distribution of the enzyme alanine : glyoxylate aminotransferase (AGT) in the livers of different mammals appears to be related to their…”
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High throughput cell-based assay for identification of glycolate oxidase inhibitors as a potential treatment for Primary Hyperoxaluria Type 1 by Wang, Mengqiao, Xu, Miao, Long, Yan, Fargue, Sonia, Southall, Noel, Hu, Xin, McKew, John C., Danpure, Christopher J., Zheng, Wei

“…Glycolate oxidase (GO) and alanine:glyoxylate aminotransferase (AGT) are both involved in the peroxisomal glyoxylate pathway. Deficiency in AGT function causes…”
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Peroxisomal Import of Human Alanine:glyoxylate Aminotransferase Requires Ancillary Targeting Information Remote from Its C Terminus by Huber, Pia A.J., Birdsey, Graeme M., Lumb, Michael J., Prowse, David T.R., Perkins, Tommy J., Knight, Daniel R., Danpure, Christopher J.

“…Although human alanine:glyoxylate aminotransferase (AGT) is imported into peroxisomes by a Pex5p-dependent pathway, the properties of its C-terminal tripeptide…”
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Molecular Basis for the Dual Mitochondrial and Cytosolic Localization of Alanine:Glyoxylate Aminotransferase in Amphibian Liver Cells by Holbrook, Joanna D., Danpure, Christopher J.

“…To gain further insights into the molecular basis of the evolution of alanine:glyoxylate aminotransferase (AGT) intracellular targeting in vertebrates, we have…”
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Development of a phenotypic high-content assay to identify pharmacoperone drugs for the treatment of primary hyperoxaluria type 1 by high-throughput screening by Madoux, Franck, Janovick, Jo Ann, Smithson, David, Fargue, Sonia, Danpure, Christopher J, Scampavia, Louis, Chen, Yih-Tai, Spicer, Timothy P, Conn, P Michael

“…Primary hyperoxaluria is a severe disease for which the best current therapy is dialysis or organ transplantation. These are risky, inconvenient, and costly…”
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Molecular aetiology of primary hyperoxaluria type 1 by Danpure, Christopher J

“…Primary hyperoxaluria type 1 (PH1) is a rare autosomal-recessive disorder, caused by a deficiency of the liver-specific intermediary-metabolic enzyme…”
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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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Molecular aetiology of primary hyperoxaluria and its implications for clinical management by Danpure, Christopher J, Rumsby, Gill

“…The primary hyperoxalurias type 1 (PH1) and type 2 (PH2) are autosomal recessive calcium oxalate kidney stone diseases caused by deficiencies of the metabolic…”
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