Search Results - "Jennings, P. R."

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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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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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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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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New dates and palaeoenvironmental evidence for the Middle to Upper Palaeolithic occupation of Higueral de Valleja Cave, southern Spain by Jennings, R.P., Giles Pacheco, F., Barton, R.N.E., Collcutt, S.N., Gale, R., Gleed-Owen, C.P., Gutiérrez López, J.M., Higham, T.F.G., Parker, A., Price, C., Rhodes, E., Santiago Pérez, A., Schwenninger, J.L., Turner, E.

“…A research programme has been set up at Higueral de Valleja Cave in southern Spain to investigate the late survival and eventual extinction of the southern…”
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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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Further studies on the activity and subcellular distribution of alanine:glyoxylate aminotransferase in the livers of patients with primary hyperoxaluria type 1 by Danpure, C J, Jennings, P R

“…1. The activity of alanine:glyoxylate aminotransferase (AGT; EC 2.6.1.44) has been measured in the unfractionated livers of 20 patients with primary…”
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Targeting of alanine: glyoxylate aminotransferase in normal individuals and its mistargeting in patients with primary hyperoxaluria type 1 by Danpure, C J, Jennings, P R, Leiper, J M, Lumb, M J, Oatey, P B

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Subcellular distribution of hepatic alanine:glyoxylate aminotransferase in various mammalian species by DANPURE, C. J, GUTTRIDGE, K. M, FRYER, P, JENNINGS, P. R, ALLSOP, J, PURDUE, P. E

“…The subcellular distribution of alanine:glyoxylate aminotransferase 1 (AGT1) enzyme activity and immunoreactive protein has been determined in the livers of a…”
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Context dependency of the PTS1 motif in human alanine: glyoxylate aminotransferase 1 by Oatey, P B, Lumb, M J, Jennings, P R, Danpure, C J

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Enzymatic heterogeneity in primary hyperoxaluria type 1 (hepatic peroxisomal alanine: Glyoxylate aminotransferase deficiency) by Danpure, C. J., Jennings, P. R.

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Enzymological characterization of a feline analogue of primary hyperoxaluria type 2: a model for the human disease by Danpure, C. J., Jennings, P. R., Mistry, J., Chalmers, R. A., McKerrell, R. E., Blakemore, W. F., Heath, M. F.

“…Summary This paper concerns an enzymological investigation into a putative feline analogue of the human autosomal recessive disease primary hyperoxaluria type…”
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Immunological heterogeneity of hepatic alanine:glyoxylate aminotransferase in primary hyperoxaluria type 1 by Wise, P.J., Danpure, C.J., Jennings, P.R.

“…Immunoblotting of human liver sonicates, after SDS-polyacrylamide gel electrophoresis, demonstrated the presence of a 40 kDa protein, corresponding to the…”
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Mitochondrial damage and the subcellular distribution of 2-oxoglutarate:glyoxylate carboligase in normal human and rat liver and in the liver of a patient with primary hyperoxaluria type I by Danpure, C J, Purkiss, P, Jennings, P R, Watts, R W

“…The subcellular distribution of 2-oxoglutarate:glyoxylate carboligase was investigated in a normal human liver, a liver from a patient with…”
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Cytosolic compartmentalization of hepatic alanine: Glyoxylate aminotransferase in patients with aberrant peroxisomal biogenesis and its effect on oxalate metabolism by Danpure, C. J., Fryer, P., Griffiths, S., Guttridge, K. M., Jennings, P. R., Allsop, J., Moser, A. B., Naidu, S., Moser, H. W., MacCollin, M., DeVivo, D. C.

“…Summary Two patients with atypical manifestations of aberrant peroxisomal biogenesis are described. Contrary to previous studies, which had shown that…”
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Enzymatic Prenatal Diagnosis of Primary Hyperoxaluria Type 1: Potential and Limitations by Danpure, C. J., Cooper, P. J., Jennings, P. R., Wise, P. J., Penketh, R. J., Rodeck, C. H.

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A new micro-assay for human liver alanine: glyoxylate aminotransferase by Allsop, J, Jennings, P R, Danpure, C J

“…A micro radiochemical method has been developed for the assay of the human liver peroxisomal enzyme alanine: glyoxylate aminotransferase (EC 2.6.1.44). The…”
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Further studies on the effect of chloroquine on the uptake, metabolism and intracellular translocation of [35S]cystine in cystinotic fibroblasts by Danpure, C J, Jennings, P R, Fyfe, D A

“…The present study uses the lysosomotropic drug chloroquine to investigate the mechanisms by which exogenous [35S]cystine is able to label the intracellular…”
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Mammalian Alanine/Glyoxylate Aminotransferase 1 Is Imported into Peroxisomes via the PTS1 Translocation Pathway. Increased Degeneracy and Context Specificity of the Mammalian PTS1 Motif and Implications for the Peroxisome-to-Mitochondrion Mistargeting of AGT in Primary Hyperoxaluria Type 1 by Motley, Alison, Lumb, Michael J., Oatey, Paru B., Jennings, Patricia R., De Zoysa, Priyal A., Ronald J. A. Wanders, Tabak, Henk F., Danpure, Christopher J.

“…Alanine/glyoxylate aminotransferase 1 (AGT) is peroxisomal in most normal humans, but in some patients with the hereditary disease primary hyperoxaluria type 1…”
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Enzymological diagnosis of primary hyperoxaluria type 1 by measurement of hepatic alanine: glyoxylate aminotransferase activity by Danpure, C J, Jennings, P R, Watts, R W

“…A deficiency of activity of the peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT,EC 2.6.1.44)has been found in the livers of six patients with…”
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