-
1
-
-
0015782203
-
Studies on erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease
-
Akatsuka, J., Saito, F., Okabe, N., Maekawa, K. & Kitani, N. (1973) Studies on erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease. Rinsho Ketsueki. Japanese Journal of Clinical Hematology, 14, 1189-1197.
-
(1973)
Rinsho Ketsueki. Japanese Journal of Clinical Hematology
, vol.14
, pp. 1189-1197
-
-
Akatsuka, J.1
Saito, F.2
Okabe, N.3
Maekawa, K.4
Kitani, N.5
-
2
-
-
0036111623
-
Endemic polycythemia in Russia: Mutation in the VHL gene
-
Ang, S.O., Chen, H., Gordeuk, V.R., Sergueeva, A.I., Polyakova, L.A., Miasnikova, G.Y., Kralovics, R., Stockton, D.W. & Prchal, J.T. (2002a) Endemic polycythemia in Russia: mutation in the VHL gene. Blood Cells, Molecules, and Diseases, 28, 57-62.
-
(2002)
Blood Cells, Molecules, and Diseases
, vol.28
, pp. 57-62
-
-
Ang, S.O.1
Chen, H.2
Gordeuk, V.R.3
Sergueeva, A.I.4
Polyakova, L.A.5
Miasnikova, G.Y.6
Kralovics, R.7
Stockton, D.W.8
Prchal, J.T.9
-
3
-
-
18744373593
-
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia
-
Ang, S.O., Chen, H., Hirota, K., Gordeuk, V.R., Jelinek, J., Guan, Y., Liu, E., Sergueeva, A.I., Miasnikova, G.Y., Mole, D., Maxwell, P.H., Stockton, D.W., Semenza, G.L. & Prchal, J.T. (2002b) Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Nature Genetics, 32, 614-621.
-
(2002)
Nature Genetics
, vol.32
, pp. 614-621
-
-
Ang, S.O.1
Chen, H.2
Hirota, K.3
Gordeuk, V.R.4
Jelinek, J.5
Guan, Y.6
Liu, E.7
Sergueeva, A.I.8
Miasnikova, G.Y.9
Mole, D.10
Maxwell, P.H.11
Stockton, D.W.12
Semenza, G.L.13
Prchal, J.T.14
-
4
-
-
0015544220
-
Red cell glycolysis in a case of 3-phosphoglycerate kinase deficiency
-
Arese, P., Bosia, A., Gallo, E., Mazza, U. & Pescarmona, G.P. (1973) Red cell glycolysis in a case of 3-phosphoglycerate kinase deficiency. European Journal of Clinical Investigation, 3, 86-92.
-
(1973)
European Journal of Clinical Investigation
, vol.3
, pp. 86-92
-
-
Arese, P.1
Bosia, A.2
Gallo, E.3
Mazza, U.4
Pescarmona, G.P.5
-
5
-
-
0014496479
-
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
-
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
-
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
-
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
-
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
-
10
-
-
0018148634
-
Existence of only a single functional pool of adenosine triphosphate in human erythrocytes
-
Beutler, E., Guinto, E., Kuhl, W. & Matsumoto, F. (1978) Existence of only a single functional pool of adenosine triphosphate in human erythrocytes. Proceedings of the National Academy of Sciences, United States of America, 75, 2825-2828.
-
(1978)
Proceedings of the National Academy of Sciences, United States of America
, vol.75
, pp. 2825-2828
-
-
Beutler, E.1
Guinto, E.2
Kuhl, W.3
Matsumoto, F.4
-
11
-
-
0029797046
-
Mutation nomenclature: Nicknames, systematic names, and unique identifiers
-
Beutler, E., McKusick, V.A., Motulsky, A.G., Scriver, C.R. & Hutchinson, F. (1996) Mutation nomenclature: Nicknames, systematic names, and unique identifiers. Human Mutation, 8, 203-206.
-
(1996)
Human Mutation
, vol.8
, pp. 203-206
-
-
Beutler, E.1
McKusick, V.A.2
Motulsky, A.G.3
Scriver, C.R.4
Hutchinson, F.5
-
12
-
-
33745000116
-
Genome-wide identification of pseudogenes capable of disease-causing gene conversion
-
Bischof, J.M., Chiang, A.P., Scheetz, T.E., Stone, E.M., Casavant, T.L., Sheffield, V.C. & Braun, T.A. (2006) Genome-wide identification of pseudogenes capable of disease-causing gene conversion. Human Mutation, 27, 545-552.
-
(2006)
Human Mutation
, vol.27
, pp. 545-552
-
-
Bischof, J.M.1
Chiang, A.P.2
Scheetz, T.E.3
Stone, E.M.4
Casavant, T.L.5
Sheffield, V.C.6
Braun, T.A.7
-
13
-
-
0016164570
-
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
-
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
-
15
-
-
0014990309
-
Phosphoglycerate kinase: An X-linked polymorphism in man
-
Chen, S.-H., Malcolm, L.A., Yoshida, A. & Giblett, E.R. (1971) Phosphoglycerate kinase: an X-linked polymorphism in man. American Journal of Human Genetics, 23, 87-91.
-
(1971)
American Journal of Human Genetics
, vol.23
, pp. 87-91
-
-
Chen, S.-H.1
Malcolm, L.A.2
Yoshida, A.3
Giblett, E.R.4
-
16
-
-
0017113656
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
28
-
-
0015593631
-
Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease
-
Konrad, P.N., McCarthy, D.J., Mauer, A.M., Valentine, W.N. & Paglia, D.E. (1973) Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease. Journal of Pediatrics, 82, 456-460.
-
(1973)
Journal of Pediatrics
, vol.82
, pp. 456-460
-
-
Konrad, P.N.1
McCarthy, D.J.2
Mauer, A.M.3
Valentine, W.N.4
Paglia, D.E.5
-
29
-
-
0014429088
-
Red cell phosphoglycerate kinase deficiency
-
Kraus, A.P., Langston, M.F., Jr., & Lynch, B.L. (1968) Red cell phosphoglycerate kinase deficiency. Biochemical and Biophysical Research Communications, 30, 173-177.
-
(1968)
Biochemical and Biophysical Research Communications
, vol.30
, pp. 173-177
-
-
Kraus, A.P.1
Langston Jr., M.F.2
Lynch, B.L.3
-
30
-
-
0017589708
-
Hereditary deficiency of phosphoglycerate kinase: A new variant in erythrocytes and leucocytes, not associated with haemolytic anaemia
-
Krietsch, W.K.G., Krietsch, H., Kaiser, W., Duennwald, M., Kuntz, G.W.K., Duhm, J. & Buecher, T. (1977) Hereditary deficiency of phosphoglycerate kinase: a new variant in erythrocytes and leucocytes, not associated with haemolytic anaemia. European Journal of Clinical Investigation, 7, 427-435.
-
(1977)
European Journal of Clinical Investigation
, vol.7
, pp. 427-435
-
-
Krietsch, W.K.G.1
Krietsch, H.2
Kaiser, W.3
Duennwald, M.4
Kuntz, G.W.K.5
Duhm, J.6
Buecher, T.7
-
31
-
-
0031722646
-
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
-
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
-
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
-
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
-
35
-
-
0020698922
-
Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase
-
Michelson, A.M., Markham, A.F. & Orkin, S.H. (1983) Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase. Proceedings of the National Academy of Sciences, United States of America, 80, 472-476.
-
(1983)
Proceedings of the National Academy of Sciences, United States of America
, vol.80
, pp. 472-476
-
-
Michelson, A.M.1
Markham, A.F.2
Orkin, S.H.3
-
36
-
-
0021838357
-
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
-
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
-
38
-
-
0141428864
-
A novel missense mutation (1060G -> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis
-
Morimoto, A., Ueda, I., Hirashima, Y., Sawai, Y., Usuku, T., Kano, G., Kuriyama, K., Todo, S., Sugimoto, T., Kanno, H., Fujii, H. & Imashuku, S. (2003) A novel missense mutation (1060G -> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis. British Journal of Haematology, 122, 1009-1013.
-
(2003)
British Journal of Haematology
, vol.122
, pp. 1009-1013
-
-
Morimoto, A.1
Ueda, I.2
Hirashima, Y.3
Sawai, Y.4
Usuku, T.5
Kano, G.6
Kuriyama, K.7
Todo, S.8
Sugimoto, T.9
Kanno, H.10
Fujii, H.11
Imashuku, S.12
-
39
-
-
33644869707
-
Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain
-
Noel, N., Flanagan, J., Kalko, S.G., Bajo, M.J.R., del Mar Mañu, M., Mañú, M., Fuster, J.L.G., Beutler, E. & Vives-Corrons, J.-L. (2005) Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain. British Journal of Haematology, 132, 523-529.
-
(2005)
British Journal of Haematology
, vol.132
, pp. 523-529
-
-
Noel, N.1
Flanagan, J.2
Kalko, S.G.3
Bajo, M.J.R.4
Del Mar Mañu, M.5
Mañú, M.6
Fuster, J.L.G.7
Beutler, E.8
Vives-Corrons, J.-L.9
-
40
-
-
0030020690
-
Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant
-
Ookawara, T., Dave, V., Willems, P., Martin, J.J., de Barsy, T., Matthys, E. & Yoshida, A. (1996) Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant. Archives of Biochemistry and Biophysics, 327, 35-40.
-
(1996)
Archives of Biochemistry and Biophysics
, vol.327
, pp. 35-40
-
-
Ookawara, T.1
Dave, V.2
Willems, P.3
Martin, J.J.4
De Barsy, T.5
Matthys, E.6
Yoshida, A.7
-
41
-
-
0014064165
-
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
-
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
-
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
-
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
-
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
-
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
-
47
-
-
0024500528
-
Recurrent myoglobinuria in a child with mental retardation: Phosphoglycerate kinase deficiency
-
Sugie, H., Sugie, Y., Nishida, M., Ito, M., Tsurui, S., Suzuki, M., Miyamoto, R. & Igarashi, Y. (1989) Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency. Journal of Child Neurology, 4, 95-99.
-
(1989)
Journal of Child Neurology
, vol.4
, pp. 95-99
-
-
Sugie, H.1
Sugie, Y.2
Nishida, M.3
Ito, M.4
Tsurui, S.5
Suzuki, M.6
Miyamoto, R.7
Igarashi, Y.8
-
48
-
-
0031969489
-
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
-
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
-
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
-
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
-
52
-
-
0014398479
-
Hereditary hemolytic anemia: Association with phosphoglycerate kinase deficiency in erythrocytes and leukocytes
-
Valentine, W.N., Hsieh, H.S., Paglia, D.E., Anderson, H.M., Baughan, M.A., Jaffe, E.R. & Garson, O.M. (1968) Hereditary hemolytic anemia: association with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. Transactions of the Association of American Physicians, 81, 49-65.
-
(1968)
Transactions of the Association of American Physicians
, vol.81
, pp. 49-65
-
-
Valentine, W.N.1
Hsieh, H.S.2
Paglia, D.E.3
Anderson, H.M.4
Baughan, M.A.5
Jaffe, E.R.6
Garson, O.M.7
-
53
-
-
0014665542
-
Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes
-
Valentine, W.N., Hsieh, H., Paglia, D.E., Anderson, H.M., Baughan, M.A., Jaffe, E.R. & Garson, O.M. (1969) Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. New England Journal of Medicine, 280, 528-534.
-
(1969)
New England Journal of Medicine
, vol.280
, pp. 528-534
-
-
Valentine, W.N.1
Hsieh, H.2
Paglia, D.E.3
Anderson, H.M.4
Baughan, M.A.5
Jaffe, E.R.6
Garson, O.M.7
-
54
-
-
17444381136
-
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
-
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
-
56
-
-
0015522385
-
Human phosphoglycerate kinase II. Structure of a variant enzyme
-
Yoshida, A., Watanabe, S., Chen, S.-H., Giblett, E.R. & Malcolm, L.A. (1972) Human phosphoglycerate kinase II. Structure of a variant enzyme. Journal of Biological Chemistry, 247, 446-449.
-
(1972)
Journal of Biological Chemistry
, vol.247
, pp. 446-449
-
-
Yoshida, A.1
Watanabe, S.2
Chen, S.-H.3
Giblett, E.R.4
Malcolm, L.A.5
-
57
-
-
0029548895
-
Molecular abnormality of a phosphoglycerate kinase variant (PGK- Alabama)
-
Yoshida, A., Twele, T.W., Dave, V. & Beutler, E. (1995) Molecular abnormality of a phosphoglycerate kinase variant (PGK- Alabama). Blood Cells, Molecules, and Diseases, 21, 179-181.
-
(1995)
Blood Cells, Molecules, and Diseases
, vol.21
, pp. 179-181
-
-
Yoshida, A.1
Twele, T.W.2
Dave, V.3
Beutler, E.4
|