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Volumn 381, Issue 2, 2004, Pages 489-494

Human hereditary glutathione synthetase deficiency: Kinetic properties of mutant enzymes

Author keywords

Co operativity; Glutathione synthetase; Kinetic property; Mutant enzyme; Reaction velocity; Substrate affinity

Indexed keywords

DISEASE CONTROL; ENZYMES; ESCHERICHIA COLI; KINETIC ENERGY; MUTAGENESIS; PATIENT MONITORING;

EID: 3242751220     PISSN: 02646021     EISSN: None     Source Type: Journal    
DOI: 10.1042/BJ20040114     Document Type: Article
Times cited : (6)

References (21)
  • 1
    • 0000443691 scopus 로고    scopus 로고
    • Glutathione synthetase deficiency and other disorders of the γ-glutamyl cycle
    • Scriver, C. F., Beaudet, A. L., Sly, W. S. and Vallee, D., eds., McGraw-Hill, New York
    • Larsson, A. and Anderson, M. E. (2001) Glutathione synthetase deficiency and other disorders of the γ-glutamyl cycle. In Metabolic Basis of Inherited Disease (Scriver, C. F., Beaudet, A. L., Sly, W. S. and Vallee, D., eds.), pp. 2205-2216, McGraw-Hill, New York
    • (2001) Metabolic Basis of Inherited Disease , pp. 2205-2216
    • Larsson, A.1    Anderson, M.E.2
  • 3
    • 0030876935 scopus 로고    scopus 로고
    • Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction
    • Dahl, N., Pigg, M., Ristoff, E., Gali, R., Carlsson, B., Mannervik, B., Larsson, A. and Board, P. (1997) Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. Hum. Mol. Genet. 6, 1147-1152
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1147-1152
    • Dahl, N.1    Pigg, M.2    Ristoff, E.3    Gali, R.4    Carlsson, B.5    Mannervik, B.6    Larsson, A.7    Board, P.8
  • 5
    • 0035120660 scopus 로고    scopus 로고
    • Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: Clinical and molecular studies
    • Corrons, J. L., Alvarez, R., Pujades, A., Zarza, R., Oliva, E., Lasheras, G., Callis, M., Ribes, A., Gelbart, T. and Beutler, E. (2001) Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies. Br. J. Haematol. 112, 475-482
    • (2001) Br. J. Haematol. , vol.112 , pp. 475-482
    • Corrons, J.L.1    Alvarez, R.2    Pujades, A.3    Zarza, R.4    Oliva, E.5    Lasheras, G.6    Callis, M.7    Ribes, A.8    Gelbart, T.9    Beutler, E.10
  • 6
    • 32744462165 scopus 로고    scopus 로고
    • Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the glutathione synthetase gene
    • Njålsson, R., Carlsson, K., Winkler, A., Larsson, A. and Norgren, S. (2003) Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the glutathione synthetase gene. Hum. Mutat. 22, 49
    • (2003) Hum. Mutat. , vol.22 , pp. 49
    • Njålsson, R.1    Carlsson, K.2    Winkler, A.3    Larsson, A.4    Norgren, S.5
  • 7
    • 0034964577 scopus 로고    scopus 로고
    • Long-term clinical outcome in patients with glutathione synthetase deficiency
    • Ristoff, E., Mayatepek, E. and Larsson, A. (2001) Long-term clinical outcome in patients with glutathione synthetase deficiency. J. Pediatr. 139, 79-84
    • (2001) J. Pediatr. , vol.139 , pp. 79-84
    • Ristoff, E.1    Mayatepek, E.2    Larsson, A.3
  • 8
    • 0029609384 scopus 로고
    • The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2
    • Webb, G. C., Vaska, V. L., Gali, R. R., Ford, J. H. and Board, P. G. (1995) The gene encoding human glutathione synthetase (GSS) maps to the long arm of chromosome 20 at band 11.2. Genomics 30, 617-619
    • (1995) Genomics , vol.30 , pp. 617-619
    • Webb, G.C.1    Vaska, V.L.2    Gali, R.R.3    Ford, J.H.4    Board, P.G.5
  • 10
    • 0033564203 scopus 로고    scopus 로고
    • Molecular basis of glutathione synthetase deficiency and a rare gene permutation event
    • Polekhina, G., Board, P. G., Gali, R. R., Rossjohn, J. and Parker, M. W. (1999) Molecular basis of glutathione synthetase deficiency and a rare gene permutation event. EMBO J. 18, 3204-3213
    • (1999) EMBO J. , vol.18 , pp. 3204-3213
    • Polekhina, G.1    Board, P.G.2    Gali, R.R.3    Rossjohn, J.4    Parker, M.W.5
  • 11
    • 0018801016 scopus 로고
    • Glutathione synthetase. Purification from rat kidney and mapping of the substrate binding sites
    • Oppenheimer, L., Wellner, V. P., Griffith, O. W. and Meister, A. (1979) Glutathione synthetase. Purification from rat kidney and mapping of the substrate binding sites. J. Biol. Chem. 254, 5184-5190
    • (1979) J. Biol. Chem. , vol.254 , pp. 5184-5190
    • Oppenheimer, L.1    Wellner, V.P.2    Griffith, O.W.3    Meister, A.4
  • 12
    • 0036881444 scopus 로고    scopus 로고
    • Glutathione synthetase deficiency: Is γ-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?
    • Ristoff, E., Hebert, C., Njålsson, R., Norgren, S., Rooyackers, O. and Larsson, A. (2002) Glutathione synthetase deficiency: is γ-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione? J. Inherit. Metab. Dis. 25, 577-584
    • (2002) J. Inherit. Metab. Dis. , vol.25 , pp. 577-584
    • Ristoff, E.1    Hebert, C.2    Njålsson, R.3    Norgren, S.4    Rooyackers, O.5    Larsson, A.6
  • 13
    • 0029155342 scopus 로고
    • Sequencing and expression of a cDNA for human glutathione synthetase
    • Gali, R. R. and Board, P. G. (1995) Sequencing and expression of a cDNA for human glutathione synthetase. Biochem. J. 310, 353-358
    • (1995) Biochem. J. , vol.310 , pp. 353-358
    • Gali, R.R.1    Board, P.G.2
  • 14
    • 0024520745 scopus 로고
    • Site-directed mutagenesis by overlap extension using the polymerase chain reaction
    • Ho, S., Hunt, H. D., Horton, R. M., Pullen, J. K. and Pease, L. R. (1989) Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 77, 51-59
    • (1989) Gene , vol.77 , pp. 51-59
    • Ho, S.1    Hunt, H.D.2    Horton, R.M.3    Pullen, J.K.4    Pease, L.R.5
  • 15
    • 0017184389 scopus 로고
    • A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
    • Bradford, M. M. (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal. Biochem. 72, 248-254
    • (1976) Anal. Biochem. , vol.72 , pp. 248-254
    • Bradford, M.M.1
  • 16
    • 0013863816 scopus 로고
    • Comparison of experimental binding data and theoretical models in protein containing subunits
    • Koshland, Jr, D. E., Némethy, G. and Filmer, D. (1966) Comparison of experimental binding data and theoretical models in protein containing subunits. Biochemistry 5, 365-385
    • (1966) Biochemistry , vol.5 , pp. 365-385
    • Koshland Jr., D.E.1    Némethy, G.2    Filmer, D.3
  • 17
    • 0031014862 scopus 로고    scopus 로고
    • Identification of an essential cysteine residue in human glutathione synthase
    • Gali, R. R. and Board, P. G. (1997) Identification of an essential cysteine residue in human glutathione synthase. Biochem. J. 321, 207-210
    • (1997) Biochem. J. , vol.321 , pp. 207-210
    • Gali, R.R.1    Board, P.G.2
  • 18
    • 0033000446 scopus 로고    scopus 로고
    • Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria
    • Waters, P. J., Parniak, M. A., Akerman, B. R., Jones, A. O. and Scriver, C. R. (1999) Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria. J. Inherit. Metab. Dis. 22, 208-212
    • (1999) J. Inherit. Metab. Dis. , vol.22 , pp. 208-212
    • Waters, P.J.1    Parniak, M.A.2    Akerman, B.R.3    Jones, A.O.4    Scriver, C.R.5
  • 20


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.