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Original Articles

Inborn Errors of Purine and Pyrimidine Metabolism: How Much We Owe to H. Anne Simmonds

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Pages 1233-1242 | Received 19 May 2011, Accepted 22 Jul 2011, Published online: 01 Dec 2011

REFERENCES

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  • Fairbanks , L. D. , Bofill , M. , Ruckemann , K. and Simmonds , H. A. 1995 . Importance of ribonucleotide availability to proliferating T-lymphocytes from healthy humans: disproportionate expansion of pyrimidine pools and contrasting effects of de novo synthesis inhibitors . J. Biol. Chem , 270 : 29682 – 29689 .
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  • Dean , B. M. , Perrett , D. , Simmonds , H. A. , Sahota , A. and Van Acker , K. J. 1978 . Adenine and adenosine metabolism in intact erytrocytes deficient in adenosine monophosphate-pyrophosphate phosphoribosyltransferase: a study of two families . Clin. Sci. Mol. Med , 55 : 407 – 412 .
  • Engle , S. J. , Womer , D. E. , Davies , P. M. , Boivin , G. , Sahota , A. , Simmonds , H. A. , Stambrook , P. J. and Tischfield , J. A. 1996 . HPRT-APRT-deficient mice are not a model for Lesch-Nyhan syndrome . Hum. Mol. Genet , 5 : 1607 – 1610 .
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  • Simmonds , H. A. , Fairbanks , L. D. , Duley , J. A. and Moris , G. S. 1989 . ATP fomation from deoxyadenosine in human erythrocytes: evidence for a hitherto unidentified route involving adenine and S-adenosylhomocysteine hydrolase . Bioscience Rep. , 9 : 75 – 85 .
  • Simmonds , H. A. , Panayi , G. S. and Corrigall , V. 1978 . A role for purine metabolism in the immune response: ADA activity and deoxyadenosine catabolism . Lancet , 1 : 60 – 63 .
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  • Simmonds , H. A. , Micheli , V. , Duley , J. A. , Fairbanks , L. D. , Hopkinson , D. A. and Levinsky , R. J. 1989 . Further evidence for a “new” purine defect, inosinetriphosphate (ITP) pyrophosphohydrolase deficiency . Adv. Exp. Med. Biol , 253 : 97 – 102 .
  • Sumi , S. , Marinaki , A. M. , Arenas , M. , Fairbanks , L. , Shobowale-Bakre , M. , Rees , D. C. , Thein , S. L. , Ansari , A. , Sanderson , J. , De Abreu , R. A. , Simmonds , H. A. and Duley , J. A. 2002 . Genetic basis of ITP pyrophosphohydrolase deficiency . Hum. Genet , 111 : 360 – 367 .
  • Simmonds , H. A. , Hoffman , G. F. , Perignon , J. L. , Micheli , V. and Van Gennip , A. H. 1999 . Diagnosis of molybdenum cofactor deficiency . Lancet , 353 : 675 – 676 .
  • Simmonds , H. A. , Cameron , J. S. , Goldsmith , D. J. , Fairbanks , L. D. and Raman , G. V. 2006 . Familial juvenile hyperuricaemic nephropathy is not such a rare genetic metabolic purine disease in Britain . Nucleosides Nucleotides Nucleic Acids , 25 : 1071 – 1075 .
  • Cameron , J. S. and Simmonds , H. A. 2005 . Hereditary hyperuricemia and renal disease . Semin Nephrol. , 25 : 9 – 18 .
  • Augoustides-Savvopoulou , P. , Papachristou , F. , Fairbanks , L. , Dimitrakopoulos , K. , Marinaki , A. M. and Simmonds , A. H. 2002 . Partial HPRT deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale . Pediatrics , 109 : E17
  • Fairbanks , L. D. , Goday , A. , Morris , G. S. , Brolsma , M. F.J. , Simmonds , H. A. and Gibson , T. 1983 . Rapid determination of purine enzyme activity in intact and lysed cells using high-performance liquid chromatography with and without radiolabelled substrates . J. Chromatogr. , 276 : 427 – 432 .
  • Morris , G. S. and Simmonds , H. A. 1985 . Use of fundamental elution protocol for the development of reversed-phase high-performance liquid chromatography enabling rapid simultaneous determination of purines, pyrimidines and allied compounds commonly found in human biological fluids . J. Chromatogr. , 344 : 101 – 113 .
  • Perrett , D. and Simmonds , H. A. 1990 . The high performance liquid chromatography of enzyme system relating to purine and pyrimidine metabolism: an overview . Biomed. Chromatogr. , 4 : 267 – 271 .
  • Simmonds , H. A. , Fairbanks , L. D. , Morris , G. S. , Webster , D. R. and Harley , E. H. 1988 . Altered erythrocyte nucleotide patterns are characteristic of inherited disorders of purine or pyrimidine metabolism . Clin. Chim. Acta , 171 : 197 – 210 .
  • Simmonds , H. A. 1987 . “ Purine and pyrimidine disorders ” . In The inherited metabolic diseases , Edited by: Holton , J. B. 215 – 255 . Churchill Livingstone, Edinburgh .
  • Stone , T. W. and Simmonds , H. A. 1991 . Purines: Basic and Clinical Aspects 1 – 244 . Kluwer, , London
  • Simmonds , H. A. , Duley , J. A. and Davies , P. M. 1991 . “ Analysis of purines and pyrimidines in blood, urine and other physiological fluids ” . In Techniques in diagnostic human biochemical genetics –a Laboratory Manual , Edited by: Hommes , F. A. 397 – 424 . Wiley-Liss, Inc., New York .
  • Simmonds , H. A. , Duley , J. A. , Fairbanks , L. D. and McBride , M. B. 1997 . When to investigate for purine and pyrimidine disorders. introduction and review of clinical and laboratory indications . J. Inher. Metab. Dis. , 20 : 214 – 226 .
  • Fairbanks , L. D. , Simmonds , H. A. and Webster , D. R. 1987 . Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders . J. Inherit. Metab. Dis. , 10 : 174 – 186 .
  • Cameron , J. S. , Simmonds , H. A. , Webster , D. R. , Wass , V. and Sahota , A. 1984 . Problems of diagnosis in an adolescent wih hypoxanthine-guanine phosphoribosyltansferase deficiency and acute renal failure . Adv. Exp. Med. Biol. , 165A : 7 – 12 .
  • Qiu , Y. , Fairbanks , L. D. , Ruckermann , K. , Hawrlowicz , C. M. , Richards , D. F. , Kirschbaum , B. and Simmonds , H. A. 2000 . Mycophenolic-induced GTP depletion also affects ATP and pyrimidine synthesis in mytogen-stimulated primary human T-lymphocytes . Transplantation , 69 : 890 – 897 .
  • Goldsmith , D. , Carrey , E. A. , Edbury , S. , Smolenski , R. T. , Jagodzinski , P. and Simmonds , H. A. 2004 . Mycophenolate mofetil, an inhibitor of IMPDH, causes a paradoxical elevation of GTP in erythrocytes of renal transplant patients . Clin. Sci. , 107 : 63 – 68 .
  • Cameron , J. S. and Simmonds , H. A. 1987 . Use and abuse of allopurinol . Br. Med. J. , 294 : 1504 – 1505 .
  • Simmonds , H. A. , Webster , D. R. , Becroft , M. O. and Potter , C. F. 1980 . Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol . Eur. J. Clin. Invest. , 10 : 333 – 339 .
  • Simmonds , H. A. , Reiter , S. , Davies , P. M. and Cameron , J. S. 1991 . Orotidine accumulation in human erythrocytes during allopurinol therapy: association with high urinary oxypurinol-7-riboside concentrations in renal failure and in the LN syndrome . Clin. Sci. , 80 : 191 – 197 .
  • Chocair , P. R. , Duley , J. A. , Simmonds , H. A. and Cameron , J. S. 1992 . The importance of thiopurine methyltransferase activity for the use of azathioprine in transplant recipients . Trasplantation , 53 : 1051 – 1056 .
  • Chocair , P. R. , Duley , J. A. , Cameron , J. S. , Arap , S. , Ianhez , L. , Sabbaga , E. and Simmonds , H. A. 1995 . Does low-dose allopurinol, with azathioprine, cyclosporin and prednisolone, improve renal transplant immunosuppression? . Adv. Exp. Med. Biol. , 370 : 205 – 208 .
  • Staub , M. , Stenger , A. , Sumeg , R. , Spasokoukotskaja , T. , Fairbanks , L. D. , Simmonds , H. A. and Keszler , G. 2006 . The neuroleptic chlorpromazine inhibits the cationic and stimulates the anionic phospholipid precursor synthesis in human lymphocytes . Nucleosides Nucleotides Nucleic Acids , 25 : 1133 – 1139 .
  • Fabianowska-Majewska , K. , Duley , J. A. and Simmonds , H. A. 1994 . Effects of novel anti-viral adenosine analogues on the activity of S-adenosylhomocysteine hydrolase from human liver . Biochem. Pharmacol. , 48 : 897 – 903 .
  • Bofill , M. , Fairbanks , L. D. , Ruckemann , K. , Lipman , M. and Simmonds , H. A. 1995 . T-lymphocytes from AIDS patients are unable to synthesize ribonucleotides de novo in response to mitogenic stimulation. Impaired pyrimidine responses are already evident at early stages of HIV-1 infection . J. Biol. Chem. , 270 : 29690 – 29697 .
  • Simmonds , H. A. , Webster , D. R. , Wilson , J. and Lingham , S. 1982 . An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities . Lancet , 10 : 68 – 70 .
  • Micheli , V. , Sestini , S. and Ricci , C. 1986 . Purine and pyridine nucleotide production in human erythrocytes . Arch. Biochem. Biophys. , 244 : 454 – 458 .
  • Slominska , E. M. , Carrey , E. A. , Foks , H. , Orlewska , C. , Wieczerzak , E. , Sowinski , P. , Yacoub , M. H. , Marinaki , A. M. , Simmonds , H. A. and Smolenski , R. T. 2006 . A novel nucleotide found in human erythrocytes, 4-Pyridone-3-carboxamide-1-D-ribonucleoside triphosphate . J. Biol. Chem. , 281 : 32057 – 32064 .
  • Micheli , V. , Simmonds , H. A. and Ricci , C. 1990 . Regulation of NAD synthesis in erythrocytes of patients with HGPRT deficiency and a patient with PRPP sinthetase superactivity . Clin. Sci. , 70 : 239 – 245 .
  • Simmonds , H. A. , Micheli , V. , Davies , P. M. and Mc Bride , M. B. 1990 . Erythrocyte nucleotide stability and plasma hypoxanthine levels: is 4°C really the best short-term storage temperature? . Clin. Chim. Acta , 192 : 121 – 132 .
  • Sestini , S. , Pescaglini , M. , Magagnoli , C. , Jacomelli , G. and Simmonds , H. A. 1991 . NAD synthesis in human erythrocytes: study on adenylyl-transferase activities in patients bearing purine enzyme disorders . Adv. Exp. Med. Biol. , 309B : 319 – 322 .
  • Micheli , V. , Simmonds , H. A. , Bari , M. and Pompucci , G. 1993 . HPLC determination of oxidized and reduced coenzymes in human erythrocytes . Clin. Chim. Acta , 220 : 1 – 17 .
  • Micheli , V. , Sestini , S. , Rocchigiani , M. , Jacomelli , G. , Manzoni , F. , Peruzzi , L. , Gathof , B. S. , Zammarchi , E. and Pompucci , G. 1999 . Hypoxanthine-guanine phosphoribosyltransferase deficiency and erythrocyte synthesis of pyridine coenzymes . Life Sci. , 64 : 2479 – 2487 .
  • Pescaglini , M. , Micheli , V. , Simmonds , H. A. , Rocchigiani , M. and Pompucci , G. 1994 . Nicotinic acid phosphoribosyltransferase activity in human erythrocytes: studies using a new HPLC-method . Clin. Chim. Acta , 229 : 15 – 25 .
  • Micheli , V. , Gathof , B. S. , Rocchigiani , M. , Jacomelli , G. , Sestini , S. , Peruzzi , L. , Notarantonio , L. , Cerboni , B. , Hayek , G. and Pompucci , G. 2002 . Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase . Biochem. Biophys. Acta , 1587 : 45 – 52 .
  • Fairbanks , L. D. , Jacomelli , G. , Micheli , V. , Slade , T. and Simmonds , H. A. 2002 . Severe pyridine nucleotide depletion in fibroblasts from LN patients . Biochem. J. , 366 : 265 – 272 .
  • Sestini , S. , Jacomelli , G. , Pescaglini , M. , Micheli , V. and Pompuccim , G. 1999 . Pyridine nucleotide con-centration and activity of related enzymes in human lymphocytes . Cell. Mol. Biol. Lett. , 4 : 468
  • Carrey , E. A. , Smolenski , R. T. , Edburya , S. M. , Laurence , A. , Marinaki , A. M. , Duley , J. A. , Limin , Zhue , Goldsmith , D. J.A. and Simmonds , H. A. 2003 . Origin and characteristics of an unusual pyridine nucleotide accumulating in erythrocytes: positive correlation with degree of renal failure . Clinica. Chimica. Acta , 335 : 117 – 129 .
  • Laurence , A. , Edbury , S. M. , Marinaki , A. M. , Smolenski , R. T. , Goldsmith , D. J.A. , Simmonds , H. A. and Carrey , E. A. 2007 . 4-pyridone-3-carboxamide ribonucleoside triphosphate accumulating in erythrocytes in end stage renal failure originates from tryptophan metabolism . Clin. Exp. Med. , 7 : 135 – 141 .
  • Slominska , E. M. , Orlewska , C. , Yuen , A. , Osman , L. , Romaszko , P. , Sokolowska , E. , Foks , H. , Simmonds , H. A. , Yacoub , M. H. and Smolenski , R. T. 2008 . Metabolism of 4-pyridone-3-carboxamide-1-beta-D-ribonucleoside triphosphate and its nucleoside precursor in the erythrocytes . Nucleosides Nucleotides Nucleic Acids , 27 : 830 – 834 .

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