메뉴 건너뛰기




Volumn 20, Issue 2, 1997, Pages 193-202

Inborn errors of the purine nucleotide cycle: Adenylosuccinase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINO 4 IMIDAZOLECARBOXAMIDE; 5' NUCLEOTIDASE; ADENYLOSUCCINATE LYASE; PURINE NUCLEOTIDE;

EID: 0030969652     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005304722259     Document Type: Conference Paper
Times cited : (66)

References (34)
  • 1
    • 0025375653 scopus 로고
    • Cloning of a cDNA encoding adenylosuccinate lyase by functional complementation in Escherichia coli
    • Aimi J, Badylak J, Williams J, Chen Z, Zalkin H, Dixon JE (1990) Cloning of a cDNA encoding adenylosuccinate lyase by functional complementation in Escherichia coli. J Biol Chem 265: 9011-9014.
    • (1990) J Biol Chem , vol.265 , pp. 9011-9014
    • Aimi, J.1    Badylak, J.2    Williams, J.3    Chen, Z.4    Zalkin, H.5    Dixon, J.E.6
  • 3
    • 0000139091 scopus 로고
    • A new coupling component for sulfanilamide determination
    • Bratton AC, Marshall AK (1939) A new coupling component for sulfanilamide determination. J Biol Chem 128: 537-550.
    • (1939) J Biol Chem , vol.128 , pp. 537-550
    • Bratton, A.C.1    Marshall, A.K.2
  • 4
    • 0022532420 scopus 로고
    • Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines
    • De Bree PK, Wadman SK, Duran M, Fabery de Jonge H (1986) Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines. Clin Chim Acta 156: 279-288.
    • (1986) Clin Chim Acta , vol.156 , pp. 279-288
    • De Bree, P.K.1    Wadman, S.K.2    Duran, M.3    Fabery De Jonge, H.4
  • 5
    • 0023749672 scopus 로고
    • Regional brain glucose utilization in adenylosuccinase-deficient patients measured by positron emission tomography
    • De Volder AG, Jaeken J, Van den Berghe G, et al (1988) Regional brain glucose utilization in adenylosuccinase-deficient patients measured by positron emission tomography. Pediatr Res 24: 238-242.
    • (1988) Pediatr Res , vol.24 , pp. 238-242
    • De Volder, A.G.1    Jaeken, J.2    Van Den Berghe, G.3
  • 7
    • 4243705068 scopus 로고
    • In vivo magnetic resonance spectroscopy and imaging of patients with adenylosuccinase deficiency
    • Amersfoort, The Netherlands, Abstract book
    • Dorland L, van Sprang FJ, van Echteld CJA, et al (1986) In vivo magnetic resonance spectroscopy and imaging of patients with adenylosuccinase deficiency. Annual Meeting of SSIEM, Amersfoort, The Netherlands, Abstract book P 150.
    • (1986) Annual Meeting of SSIEM , pp. 150
    • Dorland, L.1    Van Sprang, F.J.2    Van Echteld, C.J.A.3
  • 8
    • 0022332956 scopus 로고
    • The physiological role of adenosine in the central nervous system
    • Dunwiddie TV (1985) The physiological role of adenosine in the central nervous system. Int Rev Neurobiol 11: 63-139.
    • (1985) Int Rev Neurobiol , vol.11 , pp. 63-139
    • Dunwiddie, T.V.1
  • 9
    • 0028812781 scopus 로고
    • Capillary electrophoresis for screening of adenylosuccinate lyase deficiency
    • Gross M, Gathof BS, Kölle P, Gresser U (1995) Capillary electrophoresis for screening of adenylosuccinate lyase deficiency. Electrophoresis 16: 1927-1929.
    • (1995) Electrophoresis , vol.16 , pp. 1927-1929
    • Gross, M.1    Gathof, B.S.2    Kölle, P.3    Gresser, U.4
  • 10
    • 0021645906 scopus 로고
    • An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids
    • Jaeken J, Van den Berghe G (1984) An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet 2: 1048-1061.
    • (1984) Lancet , vol.2 , pp. 1048-1061
    • Jaeken, J.1    Van Den Berghe, G.2
  • 11
    • 0023816215 scopus 로고
    • Adenylosuccinase deficiency: An inborn error of purine nucleotide synthesis
    • Jaeken J, Wadman SK, Duran M, et al (1988) Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr 148: 126-131.
    • (1988) Eur J Pediatr , vol.148 , pp. 126-131
    • Jaeken, J.1    Wadman, S.K.2    Duran, M.3
  • 13
    • 0004765742 scopus 로고    scopus 로고
    • Adenylosuccinase deficiency - Identification of a new disease causing mutation
    • Kmoch S, Hartmannova H, Krijt J, Sebesta I (1996) Adenylosuccinase deficiency - identification of a new disease causing mutation. J Inher Metab Dis 19 (supplement 1): 13.
    • (1996) J Inher Metab Dis , vol.19 , Issue.1 SUPPL. , pp. 13
    • Kmoch, S.1    Hartmannova, H.2    Krijt, J.3    Sebesta, I.4
  • 15
    • 0022542961 scopus 로고
    • 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
    • Laikind PK, Seegmiller JE, Gruber HE (1986a) 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 156: 81-90.
    • (1986) Anal Biochem , vol.156 , pp. 81-90
    • Laikind, P.K.1    Seegmiller, J.E.2    Gruber, H.E.3
  • 16
    • 0022519034 scopus 로고
    • Purine biosynthesis in Chinese hamster cell mutants and human fibroblasts partially deficient in adenylosuccinate lyase
    • Laikind PK, Gruber HE, Jansen I, et al (1986b) Purine biosynthesis in Chinese hamster cell mutants and human fibroblasts partially deficient in adenylosuccinate lyase. Adv Exp Med Biol 195B: 363-369.
    • (1986) Adv Exp Med Biol , vol.195 B , pp. 363-369
    • Laikind, P.K.1    Gruber, H.E.2    Jansen, I.3
  • 17
    • 0015317149 scopus 로고
    • Ammonia production in muscle and other tissues: The purine nucleotide cycle
    • Lowenstein JM (1972) Ammonia production in muscle and other tissues: the purine nucleotide cycle. Physiol Rev 52: 384-414.
    • (1972) Physiol Rev , vol.52 , pp. 384-414
    • Lowenstein, J.M.1
  • 19
    • 0024500228 scopus 로고
    • Urine test for adenylosuccinase deficiency in autistic children
    • Maddocks J, Reed T (1989) Urine test for adenylosuccinase deficiency in autistic children. Lancet 1: 158-159.
    • (1989) Lancet , vol.1 , pp. 158-159
    • Maddocks, J.1    Reed, T.2
  • 20
    • 0021824214 scopus 로고
    • 5-Amino-4-imidazole-carboxamide riboside (Z-riboside) metabolism in eukaryotic cells
    • Sabina RL, Patterson D, Holmes EW (1985) 5-Amino-4-imidazole-carboxamide riboside (Z-riboside) metabolism in eukaryotic cells. J Biol Chem 260: 6107-6114.
    • (1985) J Biol Chem , vol.260 , pp. 6107-6114
    • Sabina, R.L.1    Patterson, D.2    Holmes, E.W.3
  • 21
    • 0028828316 scopus 로고
    • Adenylosuccinate lyase deficiency: A patient with impaired erythrocyte activity and anomalous response to intravenous fructose
    • Salerno C, Crifo C, Giardini O (1995) Adenylosuccinate lyase deficiency: a patient with impaired erythrocyte activity and anomalous response to intravenous fructose. J Inher Metab Dis 18: 602-608.
    • (1995) J Inher Metab Dis , vol.18 , pp. 602-608
    • Salerno, C.1    Crifo, C.2    Giardini, O.3
  • 22
    • 8544232870 scopus 로고    scopus 로고
    • Adenylosuccinase deficiency - Clinical and biochemical findings in 5 Czech patients
    • Sebesta I, Krijt J, Kmoch S, Hartmannova H, Wojda M, Zeman J (1996) Adenylosuccinase deficiency - clinical and biochemical findings in 5 Czech patients. J Inher Metab Dis 19 (supplement 1): 2.
    • (1996) J Inher Metab Dis , vol.19 , Issue.1 SUPPL. , pp. 2
    • Sebesta, I.1    Krijt, J.2    Kmoch, S.3    Hartmannova, H.4    Wojda, M.5    Zeman, J.6
  • 23
    • 0022396333 scopus 로고
    • Z-Nucleotide accumulation in erythrocytes from Lesch-Nyhan patients
    • Sidi Y, Mitchell BS (1985) Z-Nucleotide accumulation in erythrocytes from Lesch-Nyhan patients. J Clin Invest 76: 2416-2419.
    • (1985) J Clin Invest , vol.76 , pp. 2416-2419
    • Sidi, Y.1    Mitchell, B.S.2
  • 24
    • 0026849420 scopus 로고
    • A mutation in adenylosuccinate lyase associated with mental retardation and autistic features
    • Stone RL, Aimi J, Barshop BA, et al (1992) A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nature Genet 1: 59-63.
    • (1992) Nature Genet , vol.1 , pp. 59-63
    • Stone, R.L.1    Aimi, J.2    Barshop, B.A.3
  • 25
    • 0027240254 scopus 로고
    • Expression, purification and kinetic characterization of recombinant human adenylosuccinate lyase
    • Stone RL, Zalkin H, Dixon JE (1993) Expression, purification and kinetic characterization of recombinant human adenylosuccinate lyase. J Biol Chem 268: 19710-19716.
    • (1993) J Biol Chem , vol.268 , pp. 19710-19716
    • Stone, R.L.1    Zalkin, H.2    Dixon, J.E.3
  • 26
    • 0013519396 scopus 로고    scopus 로고
    • Clinical and biochemical findings in a first North American case of adenylosuccinase deficiency
    • Valik D, Miner PT, Jones JD (1996) Clinical and biochemical findings in a first North American case of adenylosuccinase deficiency. J Inher Metab Dis 19(supplement 1): 11.
    • (1996) J Inher Metab Dis , vol.19 , Issue.1 SUPPL. , pp. 11
    • Valik, D.1    Miner, P.T.2    Jones, J.D.3
  • 27
    • 0026062552 scopus 로고
    • Radiochemical assay of adenylosuccinase: Demonstration of parallel loss of activity toward both adenylosuccinate and succinylaminoimidazole carboxamide ribotide of patients with the enzyme defect
    • Van den Bergh F, Vincent MF, Jaeken J, Van den Berghe G (1991) Radiochemical assay of adenylosuccinase: demonstration of parallel loss of activity toward both adenylosuccinate and succinylaminoimidazole carboxamide ribotide of patients with the enzyme defect. Anal Biochem 193: 287-291.
    • (1991) Anal Biochem , vol.193 , pp. 287-291
    • Van Den Bergh, F.1    Vincent, M.F.2    Jaeken, J.3    Van Den Berghe, G.4
  • 28
    • 0027301135 scopus 로고
    • Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: Parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl
    • Van den Bergh F, Vincent MF, Jaeken J, Van den Berghe G (1993a) Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: Parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl. J Inher Metab Dis 16: 415-424.
    • (1993) J Inher Metab Dis , vol.16 , pp. 415-424
    • Van Den Bergh, F.1    Vincent, M.F.2    Jaeken, J.3    Van Den Berghe, G.4
  • 32
    • 0023240014 scopus 로고
    • A somatic cell hybrid with a single human chromosome 22 corrects the defect in the CHO mutant (Ade-I) lacking adenylosuccinase activity
    • Van Keuren ML, Hart IM, Kao FT, et al (1987) A somatic cell hybrid with a single human chromosome 22 corrects the defect in the CHO mutant (Ade-I) lacking adenylosuccinase activity. Cytogenet Cell Genet 44: 142-147.
    • (1987) Cytogenet Cell Genet , vol.44 , pp. 142-147
    • Van Keuren, M.L.1    Hart, I.M.2    Kao, F.T.3
  • 33
    • 0024823809 scopus 로고
    • Influence of succinylpurines on the binding of adenosine to a particular fraction of rat cerebral cortex
    • Vincent MF, Van den Berghe G (1989) Influence of succinylpurines on the binding of adenosine to a particular fraction of rat cerebral cortex. Adv Exp Med Biol 253B: 441-445.
    • (1989) Adv Exp Med Biol , vol.253 B , pp. 441-445
    • Vincent, M.F.1    Van Den Berghe, G.2
  • 34
    • 0026063181 scopus 로고
    • Inhibition by AICAriboside of gluconeogenesis in isolated rat hepatocytes
    • Vincent MF, Marangos PJ, Gruber HE, Van den Berghe G (1991) Inhibition by AICAriboside of gluconeogenesis in isolated rat hepatocytes. Diabetes 40: 1259-1266.
    • (1991) Diabetes , vol.40 , pp. 1259-1266
    • Vincent, M.F.1    Marangos, P.J.2    Gruber, H.E.3    Van Den Berghe, G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.