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Volumn 30, Issue 12, 2011, Pages 1276-1283

Inborn errors in purine metabolism: Role of 5'-nucleotidases and their involvement in the etiology of neurological impairments

Author keywords

Enzymology; Nucleic acid biosynthesis; Nucleoside and nucleotide kinases; Nucleoside synthesis; Phosphorylases

Indexed keywords

5' NUCLEOTIDASE; ADENINE PHOSPHORIBOSYLTRANSFERASE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; RIBOSEPHOSPHATE PYROPHOSPHOKINASE; URIDINE;

EID: 84855905002     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770.2011.616869     Document Type: Article
Times cited : (3)

References (19)
  • 1
    • 77049116036 scopus 로고    scopus 로고
    • Pediatric neurological syndromes and inborn errors of purine metabolism
    • Camici, M.; Micheli, V.; Ipata, P. L.; Tozzi, M. G. Pediatric neurological syndromes and inborn errors of purine metabolism. Neurochem. Int. 2010, 56, 367-378.
    • (2010) Neurochem. Int. , vol.56 , pp. 367-378
    • Camici, M.1    Micheli, V.2    Ipata, P.L.3    Tozzi, M.G.4
  • 3
    • 0021645906 scopus 로고
    • An infantile austistic syndrome characterised by the presence of succinylpurines in body fluids
    • Jaeken, J.; Van den Berghe, G. An infantile autistic syndrome characterised by the presence of succinylpurines in body fluid. Lancet 1984, 2, 1058-1061. (Pubitemid 15211523)
    • (1984) Lancet , vol.2 , Issue.8411 , pp. 1058-1061
    • Jaeken, J.1    Van Den Berghe, G.2
  • 4
    • 0022542961 scopus 로고
    • Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5- aminoimidazole in urine by the use of the Bratton-Marshall reaction: Identification of patients deficient in adenylosuccinate lyase activity
    • Laikind, P. K.; Seegmiller, J. E.; Gruber, H. E. Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity. Anal. Biochem. 1986, 156, 81-90. (Pubitemid 16044405)
    • (1986) Analytical Biochemistry , vol.156 , Issue.1 , pp. 81-90
    • Laikind, P.K.1    Seegmiller, J.E.2    Gruber, H.E.3
  • 5
    • 33845218744 scopus 로고    scopus 로고
    • Recent advances in structure and function of cytosolic IMP-GMP specific 5'-nucleotidase II (cN-II)
    • DOI 10.1007/s11302-006-9009-z
    • Ipata, P. L.; Tozzi, M. G. Recent advances in structure and function of cytosolic IMP-GMP specific 5'-nucleotidase II (cN-II). Purinergic Signal 2006, 2, 669-675. (Pubitemid 44848678)
    • (2006) Purinergic Signalling , vol.2 , Issue.4 , pp. 669-675
    • Ipata, P.L.1    Tozzi, M.G.2
  • 6
    • 0023665206 scopus 로고
    • Regulation of purine synthesis de novo in human fibroblasts by purine nucleotides and phosphoribosylpyrophosphate
    • Becker, M. A.; Kim, M. Regulation of purine synthesis de novo in human fibroblasts by purine nucleotides and phosphoribosylpyrophosphate. J. Biol. Chem. 1987, 262, 14531-14537.
    • (1987) J. Biol. Chem. , vol.262 , pp. 14531-14537
    • Becker, M.A.1    Kim, M.2
  • 7
    • 0026767401 scopus 로고
    • Regulation of purine nucleotide synthesis in human B lymphoblasts with both hypoxanthine-guanine phosphoribosyltransferase deficiency and phosphoribosylpyrophosphate synthetase superactivity. J
    • Becker, M. A.; Kim, M.; Husain, K.; Kang, T. Regulation of purine nucleotide synthesis in human B lymphoblasts with both hypoxanthine-guanine phosphoribosyltransferase deficiency and phosphoribosylpyrophosphate synthetase superactivity. J. Biol. Chem. 1992, 267, 4317-4321.
    • (1992) Biol. Chem. , vol.267 , pp. 4317-4321
    • Becker, M.A.1    Kim, M.2    Husain, K.3    Kang, T.4
  • 8
    • 0023687189 scopus 로고
    • Inherited superactivity of phosphoribosylpyrophosphate synthetase: Association of uric acid overproduction and sensorial deafness
    • Becker, M. A.; Puig, J. G.; Mateos, F. A.; Jimenez, M. L.; Kim, M.; Simmonds, A. Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorial deafness. Am. J. Med. 1988, 85, 383-390.
    • (1988) Am. J. Med. , vol.85 , pp. 383-390
    • Becker, M.A.1    Puig, J.G.2    Mateos, F.A.3    Jimenez, M.L.4    Kim, M.5    Simmonds, A.6
  • 9
    • 0001127049 scopus 로고
    • Hypoxanthine-guanine phosphoribosyltransferase deficiency: Lesch-Nyhan syndrome and gout
    • C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, McGraw-Hill, New York
    • Rossiter, B. J. F.; Caskey, C. T. Hypoxanthine-guanine phosphoribosyltransferase deficiency: Lesch-Nyhan syndrome and gout, in The Metabolic and Molecular Basis of Inherited Disease, ed. C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, McGraw-Hill, New York, 1995, pp. 1679-1706.
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 1679-1706
    • Rossiter, B.J.F.1    Caskey, C.T.2
  • 11
    • 0038026009 scopus 로고    scopus 로고
    • The purine nucleoside cycle in cell-free extracts of rat brain: Evidence for the occurrence of an inosine and a guanosine cycle with distinct metabolic roles
    • DOI 10.1007/s00018-003-2371-x
    • Barsotti, C.; Pesi, R.; Felice, F.; Ipata, P. L. The purine nucleoside cycle in cell-free extracts of rat brain: evidence for the occurrence of an inosine and a guanosine cycle with distinct metabolic roles. Cell. Mol. Life Sci. 2003, 60, 786-793. (Pubitemid 36570769)
    • (2003) Cellular and Molecular Life Sciences , vol.60 , Issue.4 , pp. 786-793
    • Barsotti, C.1    Pesi, R.2    Felice, F.3    Ipata, P.L.4
  • 13
    • 0033996474 scopus 로고    scopus 로고
    • Immunodeficiency caused by adenosine deaminase deficiency
    • Hershfield, M. S. Immunodeficiency caused by adenosine deaminase deficiency. Immunol. Allergy Clin. North Am. 2001, 20, 161-175.
    • (2001) Immunol. Allergy Clin. North Am. , vol.20 , pp. 161-175
    • Hershfield, M.S.1
  • 14
    • 0025785602 scopus 로고
    • Purine nucleoside phosphorylase deficiency
    • Markert, M. L. Purine nucleoside phosphorylase deficiency. Immunodefic. Rev. 1991, 3, 45-81.
    • (1991) Immunodefic. Rev. , vol.3 , pp. 45-81
    • Markert, M.L.1
  • 15
    • 36949000462 scopus 로고    scopus 로고
    • Identification of the nucleotidase responsible for the AMP hydrolysing hyperactivity associated with neurological and developmental disorders
    • DOI 10.1007/s11064-007-9407-9
    • Pesi, R.; Camici, M.; Micheli, V.; Notarantonio, L.; Jacomelli, G.; Tozzi, M. G. Identification of the nucleotidase responsible for the AMP hydrolysing hyperactivity associated with neurological and developmental disorders. Neurochem. Res. 2008, 33, 59-65. (Pubitemid 350242791)
    • (2008) Neurochemical Research , vol.33 , Issue.1 , pp. 59-65
    • Pesi, R.1    Camici, M.2    Micheli, V.3    Notarantonio, L.4    Jacomelli, G.5    Tozzi, M.G.6
  • 17
    • 46549084491 scopus 로고    scopus 로고
    • Knockdown of cytosolic 5'-nucleotidase II (cN-II) reveals that its activity is essential for survival in astrocytoma cells
    • Careddu, M. G.; Allegrini, S.; Pesi, R.; Camici, M.; Garcia-Gil, M.; Tozzi M. G. Knockdown of cytosolic 5'-nucleotidase II (cN-II) reveals that its activity is essential for survival in astrocytoma cells. Biochim. Biophys. Acta 2008, 1783, 1529-1535.
    • (2008) Biochim. Biophys. Acta , vol.1783 , pp. 1529-1535
    • Careddu, M.G.1    Allegrini, S.2    Pesi, R.3    Camici, M.4    Garcia-Gil, M.5    Tozzi, M.G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.