메뉴 건너뛰기




Volumn 136, Issue 1, 2007, Pages 3-11

PGK deficiency

Author keywords

Anaemia; Haemolytic; HNSHA; Myopathy; Rhabdomyolysis

Indexed keywords

PHOSPHOGLYCERATE KINASE;

EID: 33845499042     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2006.06351.x     Document Type: Review
Times cited : (71)

References (57)
  • 5
    • 0014496479 scopus 로고
    • Electrophoresis of phosphoglycerate kinase
    • Beutler, E. (1969) Electrophoresis of phosphoglycerate kinase. Biochemical Genetics, 3, 189-195.
    • (1969) Biochemical Genetics , vol.3 , pp. 189-195
    • Beutler, E.1
  • 6
    • 0017165401 scopus 로고
    • Glutathione deficiency, pyroglutamic acidemia and amino acid transport
    • Beutler, E. (1976) Glutathione deficiency, pyroglutamic acidemia and amino acid transport. New England Journal of Medicine, 295, 441-443.
    • (1976) New England Journal of Medicine , vol.295 , pp. 441-443
    • Beutler, E.1
  • 7
    • 0020608147 scopus 로고
    • Selectivity of proteases as a basis for tissue distribution of enzymes in hereditary deficiencies
    • Beutler, E. (1983) Selectivity of proteases as a basis for tissue distribution of enzymes in hereditary deficiencies. Proceedings of the National Academy of Sciences, United States of America, 80, 3767-3768.
    • (1983) Proceedings of the National Academy of Sciences, United States of America , vol.80 , pp. 3767-3768
    • Beutler, E.1
  • 8
    • 0026591232 scopus 로고
    • Gaucher disease: New molecular approaches to diagnosis and treatment
    • Beutler, E. (1992) Gaucher disease: new molecular approaches to diagnosis and treatment. Science, 256, 794-799.
    • (1992) Science , vol.256 , pp. 794-799
    • Beutler, E.1
  • 9
    • 33845483479 scopus 로고    scopus 로고
    • Methemoglobinemia and other causes of cyanosis
    • (ed. by M.A. Lichtman, E. Beutler, T.J. Kipps, U. Seligsohn, K. Kaushansky, & J. Prchal), McGraw-Hill, New York
    • Beutler, E. (2006) Methemoglobinemia and other causes of cyanosis. In: Williams Hematology (ed. by M.A. Lichtman, E. Beutler, T.J. Kipps, U. Seligsohn, K. Kaushansky, & J. Prchal), pp. 701-708. McGraw-Hill, New York.
    • (2006) Williams Hematology , pp. 701-708
    • Beutler, E.1
  • 13
    • 0016164570 scopus 로고
    • Erythrocyte and leucocyte 3-phosphoglycerate kinase deficiency. Studies of properties of the enzyme, phagocytic activity of the polymorphonuclear leucocytes and a review of the literature
    • Boivin, P., Hakim, J., Mandereau, J., Galand, C., Degos, F. & Schaison, G. (1974) Erythrocyte and leucocyte 3-phosphoglycerate kinase deficiency. Studies of properties of the enzyme, phagocytic activity of the polymorphonuclear leucocytes and a review of the literature. Nouvelle Revue Française d'Hématologie, 14, 496-508.
    • (1974) Nouvelle Revue Française d'Hématologie , vol.14 , pp. 496-508
    • Boivin, P.1    Hakim, J.2    Mandereau, J.3    Galand, C.4    Degos, F.5    Schaison, G.6
  • 14
    • 0015085435 scopus 로고
    • Anemie hemolytique congenitale associee a un deficit en phosphoglyceratekinase dans les glubules rouges, les polynucleaires et les lymphocytes
    • Cartier, P., Habibi, B., Leroux, J.P. & Marchand, J.C. (1971) Anemie hemolytique congenitale associee a un deficit en phosphoglyceratekinase dans les glubules rouges, les polynucleaires et les lymphocytes. Nouvelle Revue Française d'Hématologie, 11, 565-578.
    • (1971) Nouvelle Revue Française d'Hématologie , vol.11 , pp. 565-578
    • Cartier, P.1    Habibi, B.2    Leroux, J.P.3    Marchand, J.C.4
  • 16
    • 0017113656 scopus 로고
    • Characterization of phosphoglycerate kinase from human spermatozoa
    • Chen, S.H., Donahue, R.P. & Scott, C.R. (1976) Characterization of phosphoglycerate kinase from human spermatozoa. Fertility and Sterility, 27, 699-701.
    • (1976) Fertility and Sterility , vol.27 , pp. 699-701
    • Chen, S.H.1    Donahue, R.P.2    Scott, C.R.3
  • 17
    • 0028352694 scopus 로고
    • Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Creteil and PGK Amiens
    • Cohen-Solal, M., Valentin, C., Plassa, F., Guillemin, G., Danze, F., Jaisson, F. & Rosa, R. (1994) Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Creteil and PGK Amiens. Blood, 84, 898-903.
    • (1994) Blood , vol.84 , pp. 898-903
    • Cohen-Solal, M.1    Valentin, C.2    Plassa, F.3    Guillemin, G.4    Danze, F.5    Jaisson, F.6    Rosa, R.7
  • 18
    • 0020689478 scopus 로고
    • Phosphoglycerate kinase deficiency: Another cause of recurrent myoglobinuria
    • DiMauro, S., Dalakas, M. & Miranda, A.F. (1983) Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. Annals of Neurology, 13, 11-19.
    • (1983) Annals of Neurology , vol.13 , pp. 11-19
    • DiMauro, S.1    Dalakas, M.2    Miranda, A.F.3
  • 19
    • 12144285772 scopus 로고    scopus 로고
    • Role of phosphate chain mobility of MgATP in completing the 3-phosphoglycerate kinase catalytic site: Binding, kinetic, and crystallographic studies with ATP and MgATP
    • Flachner, B., Kovari, Z., Varga, A., Gugolya, Z., Vonderviszt, F., Naray-Szabo, G. & Vas, M. (2004) Role of phosphate chain mobility of MgATP in completing the 3-phosphoglycerate kinase catalytic site: binding, kinetic, and crystallographic studies with ATP and MgATP. Biochemistry, 43, 3436-3449.
    • (2004) Biochemistry , vol.43 , pp. 3436-3449
    • Flachner, B.1    Kovari, Z.2    Varga, A.3    Gugolya, Z.4    Vonderviszt, F.5    Naray-Szabo, G.6    Vas, M.7
  • 20
    • 33745171758 scopus 로고    scopus 로고
    • The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA
    • Flanagan, J.M., Rhodes, M., Wilson, M. & Beutler, E. (2006) The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA. British Journal of Haematology, 134, 233-237.
    • (2006) British Journal of Haematology , vol.134 , pp. 233-237
    • Flanagan, J.M.1    Rhodes, M.2    Wilson, M.3    Beutler, E.4
  • 21
    • 0019173119 scopus 로고
    • Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia
    • Fujii, H. & Yoshida, A. (1980) Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia. Proceedings of the National Academy of Sciences, United States of America, 77, 5461-5465.
    • (1980) Proceedings of the National Academy of Sciences, United States of America , vol.77 , pp. 5461-5465
    • Fujii, H.1    Yoshida, A.2
  • 22
    • 0019168187 scopus 로고
    • A single amino acid substitution (Asp -> Asn) in a phosphoglycerate kinase variant (PGK Munchen) associated with enzyme deficiency
    • Fujii, H., Krietsch, W.K. & Yoshida, A. (1980) A single amino acid substitution (Asp -> Asn) in a phosphoglycerate kinase variant (PGK Munchen) associated with enzyme deficiency. Journal of Biological Chemistry, 255, 6421-6423.
    • (1980) Journal of Biological Chemistry , vol.255 , pp. 6421-6423
    • Fujii, H.1    Krietsch, W.K.2    Yoshida, A.3
  • 23
    • 0019793694 scopus 로고
    • Use of cultured lymphoblastoid cells for the study of abnormal enzymes: Molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia
    • Fujii, H., Chen, S.H., Akatsuka, J., Miwa, S. & Yoshida, A. (1981) Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia. Proceedings of the National Academy of Sciences, United States of America, 78, 2587-2590.
    • (1981) Proceedings of the National Academy of Sciences, United States of America , vol.78 , pp. 2587-2590
    • Fujii, H.1    Chen, S.H.2    Akatsuka, J.3    Miwa, S.4    Yoshida, A.5
  • 24
    • 0026563545 scopus 로고
    • A single amino acid substitution (157 Gly -> Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria
    • Fujii, H., Kanno, H., Hirono, A., Shiomura, T. & Miwa, S. (1992) A single amino acid substitution (157 Gly -> Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. Blood, 79, 1582-1585.
    • (1992) Blood , vol.79 , pp. 1582-1585
    • Fujii, H.1    Kanno, H.2    Hirono, A.3    Shiomura, T.4    Miwa, S.5
  • 25
    • 0034646435 scopus 로고    scopus 로고
    • Phosphoglycerate kinase deficiency: An adult myopathic form with a novel mutation
    • Hamano, T., Mutoh, T., Sugie, H., Koga, H. & Kuriyama, M. (2000) Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation. Neurology, 54, 1188-1190.
    • (2000) Neurology , vol.54 , pp. 1188-1190
    • Hamano, T.1    Mutoh, T.2    Sugie, H.3    Koga, H.4    Kuriyama, M.5
  • 26
    • 0019132601 scopus 로고
    • A phosphoglycerate kinase variant, PGK Uppsala, associated with hemolytic anemia
    • Hjelm, M., Wadam, B. & Yoshida, A. (1980) A phosphoglycerate kinase variant, PGK Uppsala, associated with hemolytic anemia. Journal of Laboratory and Clinical Medicine, 96, 1015-1021.
    • (1980) Journal of Laboratory and Clinical Medicine , vol.96 , pp. 1015-1021
    • Hjelm, M.1    Wadam, B.2    Yoshida, A.3
  • 27
    • 0013975026 scopus 로고
    • Pyruvate kinase deficiency and related disorders of red cell glycolysis
    • Keitt, A.S. & Bennett, D.C. (1966) Pyruvate kinase deficiency and related disorders of red cell glycolysis. American Journal of Medicine, 41, 762-785.
    • (1966) American Journal of Medicine , vol.41 , pp. 762-785
    • Keitt, A.S.1    Bennett, D.C.2
  • 31
    • 0031722646 scopus 로고    scopus 로고
    • Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency
    • Kugler, W., Breme, K., Laspe, P., Muirhead, H., Davies, C., Winkler, H., Schröter, W. & Lakomek, M. (1998) Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency. Human Genetics, 103, 450-454.
    • (1998) Human Genetics , vol.103 , pp. 450-454
    • Kugler, W.1    Breme, K.2    Laspe, P.3    Muirhead, H.4    Davies, C.5    Winkler, H.6    Schröter, W.7    Lakomek, M.8
  • 32
    • 0025819489 scopus 로고
    • Molecular defect of a phosphoglycerate kinase variant (PGK- Matsue) associated with hemolytic anemia: Leu->Pro substitution caused by T/A ->C/G transition in exon 3
    • Maeda, M. & Yoshida, A. (1991) Molecular defect of a phosphoglycerate kinase variant (PGK- Matsue) associated with hemolytic anemia: Leu->Pro substitution caused by T/A ->C/G transition in exon 3. Blood, 77, 1348-1352.
    • (1991) Blood , vol.77 , pp. 1348-1352
    • Maeda, M.1    Yoshida, A.2
  • 33
    • 0026772284 scopus 로고
    • Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation
    • Maeda, M., Bawle, E.V., Kulkarni, R., Beutler, E. & Yoshida, A. (1992) Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation. Blood, 79, 2759-2762.
    • (1992) Blood , vol.79 , pp. 2759-2762
    • Maeda, M.1    Bawle, E.V.2    Kulkarni, R.3    Beutler, E.4    Yoshida, A.5
  • 34
    • 0023091937 scopus 로고
    • Human testis-specific PGK gene lacks introns and possesses characteristics of a processed gene
    • McCarrey, J.R. & Thomas, K. (1987) Human testis-specific PGK gene lacks introns and possesses characteristics of a processed gene. Nature, 326, 501-505.
    • (1987) Nature , vol.326 , pp. 501-505
    • McCarrey, J.R.1    Thomas, K.2
  • 36
    • 0021838357 scopus 로고
    • The human phosphoglycerate kinase multigene family. HLA-associated sequences and an X-linked locus containing a processed pseudogene and its functional counterpart
    • Michelson, A.M., Bruns, G.A., Morton, C.C. & Orkin, S.H. (1985) The human phosphoglycerate kinase multigene family. HLA-associated sequences and an X-linked locus containing a processed pseudogene and its functional counterpart. Journal of Biological Chemistry, 260, 6982-6992.
    • (1985) Journal of Biological Chemistry , vol.260 , pp. 6982-6992
    • Michelson, A.M.1    Bruns, G.A.2    Morton, C.C.3    Orkin, S.H.4
  • 37
    • 0015478128 scopus 로고
    • Phosphoglycerate kinase (PGK) deficiency hereditary nonspherocytic hemolytic anemia: Report of a case found in a Japanese family
    • Miwa, S., Nakashima, K., Oda, S., Ogawa, H., Nagafuji, H., Arima, M., Okuna, T. & Nakashima, T. (1972) Phosphoglycerate kinase (PGK) deficiency hereditary nonspherocytic hemolytic anemia: Report of a case found in a Japanese family. Acta Haematologica Japonica, 35, 571-574.
    • (1972) Acta Haematologica Japonica , vol.35 , pp. 571-574
    • Miwa, S.1    Nakashima, K.2    Oda, S.3    Ogawa, H.4    Nagafuji, H.5    Arima, M.6    Okuna, T.7    Nakashima, T.8
  • 41
    • 0014064165 scopus 로고
    • The role of membrane phosphoglycerate kinase in the control of glycolytic rate by active cation transport in human red blood cells
    • Parker, J.C. & Hoffman, J.F. (1967) The role of membrane phosphoglycerate kinase in the control of glycolytic rate by active cation transport in human red blood cells. Journal of General Physiology, 50, 893-916.
    • (1967) Journal of General Physiology , vol.50 , pp. 893-916
    • Parker, J.C.1    Hoffman, J.F.2
  • 42
    • 0017390388 scopus 로고
    • Membrane compartmentalized ATP and its preferential use by the Na, K-ATPase of human red cell ghosts
    • Proverbio, F. & Hoffman, J.F. (1977) Membrane compartmentalized ATP and its preferential use by the Na, K-ATPase of human red cell ghosts. Journal of General Physiology, 69, 605-632.
    • (1977) Journal of General Physiology , vol.69 , pp. 605-632
    • Proverbio, F.1    Hoffman, J.F.2
  • 43
    • 33845508619 scopus 로고
    • Severe deficiency of red cell phosphoglycerate kinase (PGK) without concomitant hemolysis
    • Rosa, R., George, C.L. & Rosa, J. (1979) Severe deficiency of red cell phosphoglycerate kinase (PGK) without concomitant hemolysis. Blood, 54(Suppl.1), 35A.
    • (1979) Blood , vol.54 , Issue.SUPPL. 1
    • Rosa, R.1    George, C.L.2    Rosa, J.3
  • 44
    • 0019973420 scopus 로고
    • A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia
    • Rosa, R., George, C., Fardeau, M., Calvin, M.C., Rapin, M. & Rosa, J. (1982) A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. Blood, 60, 84-91.
    • (1982) Blood , vol.60 , pp. 84-91
    • Rosa, R.1    George, C.2    Fardeau, M.3    Calvin, M.C.4    Rapin, M.5    Rosa, J.6
  • 45
    • 33645827525 scopus 로고    scopus 로고
    • Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing
    • Shirakawa, K., Takahashi, Y. & Miyajima, H. (2006) Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing. Neurology, 66, 925-927.
    • (2006) Neurology , vol.66 , pp. 925-927
    • Shirakawa, K.1    Takahashi, Y.2    Miyajima, H.3
  • 46
    • 0037314871 scopus 로고    scopus 로고
    • Familial phosphoglycerate kinase defi-ciency associated with rhabdomyolysis and acute renal failure: Abnormality in mRNA splicing?
    • Spanu, C. & Oltean, S. (2003) Familial phosphoglycerate kinase defi-ciency associated with rhabdomyolysis and acute renal failure: abnormality in mRNA splicing? Nephrology, Dialysis, Transplantation, 18, 445-446.
    • (2003) Nephrology, Dialysis, Transplantation , vol.18 , pp. 445-446
    • Spanu, C.1    Oltean, S.2
  • 48
    • 0031969489 scopus 로고    scopus 로고
    • A novel missense mutation (837T -> C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency
    • Sugie, H., Sugie, Y., Ito, M. & Fukuda, T. (1998) A novel missense mutation (837T -> C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency. Journal of Child Neurology, 13, 95-97.
    • (1998) Journal of Child Neurology , vol.13 , pp. 95-97
    • Sugie, H.1    Sugie, Y.2    Ito, M.3    Fukuda, T.4
  • 49
    • 0028231750 scopus 로고
    • A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina)
    • Tsujino, S., Tonin, P., Shanske, S., Nohria, V., Boustany, R.M., Lewis, D., Chen, Y.T. & DiMauro, S. (1994) A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). Annals of Neurology, 35, 349-353.
    • (1994) Annals of Neurology , vol.35 , pp. 349-353
    • Tsujino, S.1    Tonin, P.2    Shanske, S.3    Nohria, V.4    Boustany, R.M.5    Lewis, D.6    Chen, Y.T.7    DiMauro, S.8
  • 50
    • 0029133492 scopus 로고
    • Molecular defect of a phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred
    • Turner, G., Fletcher, J., Elber, J., Yanagawa, Y., Dave, V. & Yoshida, A. (1995) Molecular defect of a phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred. British Journal of Haematology, 91, 60-65.
    • (1995) British Journal of Haematology , vol.91 , pp. 60-65
    • Turner, G.1    Fletcher, J.2    Elber, J.3    Yanagawa, Y.4    Dave, V.5    Yoshida, A.6
  • 51
    • 0031656769 scopus 로고    scopus 로고
    • A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: Mechanism of mutation and structure-function relationships
    • Valentin, C., Birgens, H., Craescu, C.T., Brodum-Nielsen, K. & Cohen-Solal, M. (1998) A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships. Human Mutation, 12, 280-287.
    • (1998) Human Mutation , vol.12 , pp. 280-287
    • Valentin, C.1    Birgens, H.2    Craescu, C.T.3    Brodum-Nielsen, K.4    Cohen-Solal, M.5
  • 54
    • 17444381136 scopus 로고    scopus 로고
    • Correlation between conformational stability of the ternary enzyme-substrate complex and domain closure of 3-phosphoglycerate kinase
    • Varga, A., Flachner, B., Graczer, E., Osvath, S., Szilagyi, A.N. & Vas, M. (2005) Correlation between conformational stability of the ternary enzyme-substrate complex and domain closure of 3-phosphoglycerate kinase. FEBS Journal, 272, 1867-1885.
    • (2005) FEBS Journal , vol.272 , pp. 1867-1885
    • Varga, A.1    Flachner, B.2    Graczer, E.3    Osvath, S.4    Szilagyi, A.N.5    Vas, M.6
  • 55
    • 0022339843 scopus 로고
    • Regional localization of the phosphoglycerate kinase gene and pseudogene on the human X chromosome and assignment of a related DNA sequence to chromosome 19
    • Willard, H.F., Goss, S.J., Holmes, M.T. & Munroe, D.L. (1985) Regional localization of the phosphoglycerate kinase gene and pseudogene on the human X chromosome and assignment of a related DNA sequence to chromosome 19. Human Genetics, 71, 138-143.
    • (1985) Human Genetics , vol.71 , pp. 138-143
    • Willard, H.F.1    Goss, S.J.2    Holmes, M.T.3    Munroe, D.L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.