-
3
-
-
0037180758
-
-
Muntau, A. C., Röschinger, W., Habich, M., Demmelmair, H., Hoffmann, B., Sommerhoff, C. P., and Roscher, A. A. (2002) N. Engl. J. Med. 347, 2122-2132
-
(2002)
N. Engl. J. Med.
, vol.347
, pp. 2122-2132
-
-
Muntau, A.C.1
Röschinger, W.2
Habich, M.3
Demmelmair, H.4
Hoffmann, B.5
Sommerhoff, C.P.6
Roscher, A.A.7
-
4
-
-
34547697475
-
-
Levy, H. L., Milanowski, A., Chakrapani, A., Cleary, M., Lee, P., Trefz, F. K., Whitley, C. B., Feillet, F., Feigenbaum, A. S., Bebchuk, J. D., Christ-Schmidt, H., and Dorenbaum, A. (2007) Lancet 370, 504-510
-
(2007)
Lancet
, vol.370
, pp. 504-510
-
-
Levy, H.L.1
Milanowski, A.2
Chakrapani, A.3
Cleary, M.4
Lee, P.5
Trefz, F.K.6
Whitley, C.B.7
Feillet, F.8
Feigenbaum, A.S.9
Bebchuk, J.D.10
Christ-Schmidt, H.11
Dorenbaum, A.12
-
5
-
-
63449107693
-
-
Trefz, F. K., Burton, B. K., Longo, N., Casanova, M. M., Gruskin, D. J., Dorenbaum, A., Kakkis, E. D., Crombez, E. A., Grange, D. K., Harmatz, P., Lipson, M. H., Milanowski, A., Randolph, L. M., Vockley, J., Whitley, C. B., Wolff, J. A., Bebchuk, J., Christ-Schmidt, H., and Hennermann, J. B. (2009) J. Pediatr. 154, 700-707
-
(2009)
J. Pediatr.
, vol.154
, pp. 700-707
-
-
Trefz, F.K.1
Burton, B.K.2
Longo, N.3
Casanova, M.M.4
Gruskin, D.J.5
Dorenbaum, A.6
Kakkis, E.D.7
Crombez, E.A.8
Grange, D.K.9
Harmatz, P.10
Lipson, M.H.11
Milanowski, A.12
Randolph, L.M.13
Vockley, J.14
Whitley, C.B.15
Wolff, J.A.16
Bebchuk, J.17
Christ-Schmidt, H.18
Hennermann, J.B.19
-
6
-
-
0028124992
-
-
Shiman, R., Gray, D. W., and Hill, M. A. (1994) J. Biol. Chem. 269, 24637-24646
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 24637-24646
-
-
Shiman, R.1
Gray, D.W.2
Hill, M.A.3
-
7
-
-
0027937757
-
-
Shiman, R., Xia, T., Hill, M. A., and Gray, D. W. (1994) J. Biol. Chem. 269, 24647-24656
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 24647-24656
-
-
Shiman, R.1
Xia, T.2
Hill, M.A.3
Gray, D.W.4
-
8
-
-
0028033734
-
-
Xia, T., Gray, D. W., and Shiman, R. (1994) J. Biol. Chem. 269, 24657-24665
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 24657-24665
-
-
Xia, T.1
Gray, D.W.2
Shiman, R.3
-
10
-
-
0025336708
-
-
Shiman, R., Jones, S. H., and Gray, D. W. (1990) J. Biol. Chem. 265, 11633-11642
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 11633-11642
-
-
Shiman, R.1
Jones, S.H.2
Gray, D.W.3
-
11
-
-
0020449519
-
-
Shiman, R., Mortimore, G. E., Schworer, C. M., and Gray, D. W. (1982) J. Biol. Chem. 257, 11213-11216
-
(1982)
J. Biol. Chem.
, vol.257
, pp. 11213-11216
-
-
Shiman, R.1
Mortimore, G.E.2
Schworer, C.M.3
Gray, D.W.4
-
13
-
-
0142106379
-
-
Andersen, O. A., Stokka, A. J., Flatmark, T., and Hough, E. (2003) J. Mol. Biol. 333, 747-757
-
(2003)
J. Mol. Biol.
, vol.333
, pp. 747-757
-
-
Andersen, O.A.1
Stokka, A.J.2
Flatmark, T.3
Hough, E.4
-
14
-
-
0037335668
-
-
Solstad, T., Stokka, A. J., Andersen, O. A., and Flatmark, T. (2003) Eur. J. Biochem. 270, 981-990
-
(2003)
Eur. J. Biochem.
, vol.270
, pp. 981-990
-
-
Solstad, T.1
Stokka, A.J.2
Andersen, O.A.3
Flatmark, T.4
-
15
-
-
0036071847
-
-
Andersen, O. A., Flatmark, T., and Hough, E. (2002) J. Mol. Biol. 320, 1095-1108
-
(2002)
J. Mol. Biol.
, vol.320
, pp. 1095-1108
-
-
Andersen, O.A.1
Flatmark, T.2
Hough, E.3
-
16
-
-
2942744565
-
-
Stokka, A. J., Carvalho, R. N., Barroso, J. F., and Flatmark, T. (2004) J. Biol. Chem. 279, 26571-26580
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 26571-26580
-
-
Stokka, A.J.1
Carvalho, R.N.2
Barroso, J.F.3
Flatmark, T.4
-
17
-
-
46149093432
-
-
Gersting, S. W., Kemter, K. F., Staudigl, M., Messing, D. D., Danecka, M. K., Lagler, F. B., Sommerhoff, C. P., Roscher, A. A., and Muntau, A. C. (2008) Am. J. Hum. Genet. 83, 5-17
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 5-17
-
-
Gersting, S.W.1
Kemter, K.F.2
Staudigl, M.3
Messing, D.D.4
Danecka, M.K.5
Lagler, F.B.6
Sommerhoff, C.P.7
Roscher, A.A.8
Muntau, A.C.9
-
18
-
-
0034110962
-
-
Waters, P. J., Parniak, M. A., Akerman, B. R., and Scriver, C. R. (2000) Mol. Genet. Metab. 69, 101-110
-
(2000)
Mol. Genet. Metab.
, vol.69
, pp. 101-110
-
-
Waters, P.J.1
Parniak, M.A.2
Akerman, B.R.3
Scriver, C.R.4
-
19
-
-
10044279157
-
-
Erlandsen, H., Pey, A. L., Gámez, A., Pérez, B., Desviat, L. R., Aguado, C., Koch, R., Surendran, S., Tyring, S., Matalon, R., Scriver, C. R., Ugarte, M., Martínez, A., and Stevens, R. C. (2004) Proc. Natl. Acad. Sci. U.S.A. 101, 16903-16908
-
(2004)
Proc. Natl. Acad. Sci. U.S.A.
, vol.101
, pp. 16903-16908
-
-
Erlandsen, H.1
Pey, A.L.2
Gámez, A.3
Pérez, B.4
Desviat, L.R.5
Aguado, C.6
Koch, R.7
Surendran, S.8
Tyring, S.9
Matalon, R.10
Scriver, C.R.11
Ugarte, M.12
Martínez, A.13
Stevens, R.C.14
-
21
-
-
0023654091
-
-
Ledley, F. D., Grenett, H. E., and Woo, S. L. (1987) J. Biol. Chem. 262, 2228-2233
-
(1987)
J. Biol. Chem.
, vol.262
, pp. 2228-2233
-
-
Ledley, F.D.1
Grenett, H.E.2
Woo, S.L.3
-
22
-
-
0028901398
-
-
Martinez, A., Knappskog, P. M., Olafsdottir, S., Døskeland, A. P., Eiken, H. G., Svebak, R. M., Bozzini, M., Apold, J., and Flatmark, T. (1995) Biochem. J. 306, 589-597
-
(1995)
Biochem. J.
, vol.306
, pp. 589-597
-
-
Martinez, A.1
Knappskog, P.M.2
Olafsdottir, S.3
Døskeland, A.P.4
Eiken, H.G.5
Svebak, R.M.6
Bozzini, M.7
Apold, J.8
Flatmark, T.9
-
23
-
-
0004216822
-
-
2nd Ed., Wiley-VCH, New York, NY
-
Copeland, R. A. (2000) Enzymes: A Practical Introduction to Structure, Mechanism, and Data Analysis, 2nd Ed., Wiley-VCH, New York, NY
-
(2000)
Enzymes: A Practical Introduction to Structure, Mechanism, and Data Analysis
-
-
Copeland, R.A.1
-
25
-
-
0035879403
-
-
Flatmark, T., Stokka, A. J., and Berge, S. V. (2001) Anal. Biochem. 294, 95-101
-
(2001)
Anal. Biochem.
, vol.294
, pp. 95-101
-
-
Flatmark, T.1
Stokka, A.J.2
Berge, S.V.3
-
27
-
-
0033557480
-
-
Liu, Y., Kati, W., Chen, C. M., Tripathi, R., Molla, A., and Kohlbrenner, W. (1999) Anal. Biochem. 267, 331-335
-
(1999)
Anal. Biochem.
, vol.267
, pp. 331-335
-
-
Liu, Y.1
Kati, W.2
Chen, C.M.3
Tripathi, R.4
Molla, A.5
Kohlbrenner, W.6
-
29
-
-
34247635168
-
-
Reissmann, S., Parnot, C., Booth, C. R., Chiu, W., and Frydman, J. (2007) Nat. Struct. Mol. Biol. 14, 432-440
-
(2007)
Nat. Struct. Mol. Biol.
, vol.14
, pp. 432-440
-
-
Reissmann, S.1
Parnot, C.2
Booth, C.R.3
Chiu, W.4
Frydman, J.5
-
30
-
-
20144379204
-
-
Hutt, D. M., Baltz, J. M., and Ngsee, J. K. (2005) J. Biol. Chem. 280, 20197-20203
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 20197-20203
-
-
Hutt, D.M.1
Baltz, J.M.2
Ngsee, J.K.3
-
31
-
-
0347362817
-
-
Brock, D. A., Ehrenman, K., Ammann, R., Tang, Y., and Gomer, R. H. (2003) J. Biol. Chem. 278, 52262-52272
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 52262-52272
-
-
Brock, D.A.1
Ehrenman, K.2
Ammann, R.3
Tang, Y.4
Gomer, R.H.5
-
33
-
-
33751215258
-
-
James, J. R., Oliveira, M. I., Carmo, A. M., Iaboni, A., and Davis, S. J. (2006) Nat. Methods 3, 1001-1006
-
(2006)
Nat. Methods
, vol.3
, pp. 1001-1006
-
-
James, J.R.1
Oliveira, M.I.2
Carmo, A.M.3
Iaboni, A.4
Davis, S.J.5
-
34
-
-
41249083265
-
-
Miller, W. L., Matewish, M. J., McNally, D. J., Ishiyama, N., Anderson, E. M., Brewer, D., Brisson, J. R., Berghuis, A. M., and Lam, J. S. (2008) J. Biol. Chem. 283, 3507-3518
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 3507-3518
-
-
Miller, W.L.1
Matewish, M.J.2
McNally, D.J.3
Ishiyama, N.4
Anderson, E.M.5
Brewer, D.6
Brisson, J.R.7
Berghuis, A.M.8
Lam, J.S.9
-
37
-
-
0030437749
-
-
Knappskog, P. M., Flatmark, T., Aarden, J. M., Haavik, J., and Martínez, A. (1996) Eur. J. Biochem. 242, 813-821
-
(1996)
Eur. J. Biochem.
, vol.242
, pp. 813-821
-
-
Knappskog, P.M.1
Flatmark, T.2
Aarden, J.M.3
Haavik, J.4
Martínez, A.5
-
38
-
-
0035059729
-
-
Bjørgo, E., de Carvalho, R. M., and Flatmark, T. (2001) Eur. J. Biochem. 268, 997-1005
-
(2001)
Eur. J. Biochem.
, vol.268
, pp. 997-1005
-
-
Bjørgo, E.1
De Carvalho, R.M.2
Flatmark, T.3
-
39
-
-
28844490531
-
-
Pérez, B., Desviat, L. R., Gómez-Puertas, P., Martínez, A., Stevens, R. C., and Ugarte, M. (2005) Mol. Genet. Metab. 86, S11-S16
-
(2005)
Mol. Genet. Metab.
, vol.86
-
-
Pérez, B.1
Desviat, L.R.2
Gómez-Puertas, P.3
Martínez, A.4
Stevens, R.C.5
Ugarte, M.6
-
40
-
-
77952483396
-
-
Gersting, S. W., Lagler, F. B., Eichinger, A., Kemter, K. F., Danecka, M. K., Messing, D. D., Staudigl, M., Domdey, K. A., Zsifkovits, C., Fingerhut, R., Glossmann, H., Roscher, A. A., and Muntau, A. C. (2010) Hum. Mol. Genet. 19, 2039-2049
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 2039-2049
-
-
Gersting, S.W.1
Lagler, F.B.2
Eichinger, A.3
Kemter, K.F.4
Danecka, M.K.5
Messing, D.D.6
Staudigl, M.7
Domdey, K.A.8
Zsifkovits, C.9
Fingerhut, R.10
Glossmann, H.11
Roscher, A.A.12
Muntau, A.C.13
-
41
-
-
0029587741
-
-
Kappock, T. J., Harkins, P. C., Friedenberg, S., and Caradonna, J. P. (1995) J. Biol. Chem. 270, 30532-30544
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 30532-30544
-
-
Kappock, T.J.1
Harkins, P.C.2
Friedenberg, S.3
Caradonna, J.P.4
-
42
-
-
0031037146
-
-
Davis, M. D., Parniak, M. A., Kaufman, S., and Kempner, E. (1997) Proc. Natl. Acad. Sci. U.S.A. 94, 491-495
-
(1997)
Proc. Natl. Acad. Sci. U.S.A.
, vol.94
, pp. 491-495
-
-
Davis, M.D.1
Parniak, M.A.2
Kaufman, S.3
Kempner, E.4
-
43
-
-
0032579213
-
-
Chehin, R., Thorolfsson, M., Knappskog, P. M., Martinez, A., Flatmark, T., Arrondo, J. L., and Muga, A. (1998) FEBS Lett. 422, 225-230
-
(1998)
FEBS Lett.
, vol.422
, pp. 225-230
-
-
Chehin, R.1
Thorolfsson, M.2
Knappskog, P.M.3
Martinez, A.4
Flatmark, T.5
Arrondo, J.L.6
Muga, A.7
-
44
-
-
0033521234
-
-
Teigen, K., Frøystein, N. A., and Martínez, A. (1999) J. Mol. Biol. 294, 807-823
-
(1999)
J. Mol. Biol.
, vol.294
, pp. 807-823
-
-
Teigen, K.1
Frøystein, N.A.2
Martínez, A.3
-
45
-
-
0037129928
-
-
Thórólfsson, M., Ibarra-Molero, B., Fojan, P., Petersen, S. B., Sanchez- Ruiz, J. M., and Martínez, A. (2002) Biochemistry 41, 7573-7585
-
(2002)
Biochemistry
, vol.41
, pp. 7573-7585
-
-
Thórólfsson, M.1
Ibarra-Molero, B.2
Fojan, P.3
Petersen, S.B.4
Sanchez-Ruiz, J.M.5
Martínez, A.6
-
46
-
-
78651189765
-
-
Monod, J., Wyman, J., and Changeux, J. P. (1965) J. Mol. Biol. 12, 88-118
-
(1965)
J. Mol. Biol.
, vol.12
, pp. 88-118
-
-
Monod, J.1
Wyman, J.2
Changeux, J.P.3
-
47
-
-
0013863816
-
-
Koshland, D. E., Jr., Némethy, G., and Filmer, D. (1966) Biochemistry 5, 365-385
-
(1966)
Biochemistry
, vol.5
, pp. 365-385
-
-
Koshland Jr., D.E.1
Némethy, G.2
Filmer, D.3
-
49
-
-
0018801561
-
-
Shiman, R., Gray, D. W., and Pater, A. (1979) J. Biol. Chem. 254, 11300-11306
-
(1979)
J. Biol. Chem.
, vol.254
, pp. 11300-11306
-
-
Shiman, R.1
Gray, D.W.2
Pater, A.3
-
51
-
-
0037262644
-
-
Volner, A., Zoidakis, J., and Abu-Omar, M. M. (2003) J. Biol. Inorg. Chem. 8, 121-128
-
(2003)
J. Biol. Inorg. Chem.
, vol.8
, pp. 121-128
-
-
Volner, A.1
Zoidakis, J.2
Abu-Omar, M.M.3
-
52
-
-
0034093759
-
-
Erlandsen, H., Bjørgo, E., Flatmark, T., and Stevens, R. C. (2000) Biochemistry 39, 2208-2217
-
(2000)
Biochemistry
, vol.39
, pp. 2208-2217
-
-
Erlandsen, H.1
Bjørgo, E.2
Flatmark, T.3
Stevens, R.C.4
-
53
-
-
8144220031
-
-
Pey, A. L., Pérez, B., Desviat, L. R., Martínez, M. A., Aguado, C., Erlandsen, H., Gámez, A., Stevens, R. C., Thórólfsson, M., Ugarte, M., and Martínez, A. (2004) Hum. Mutat. 24, 388-399
-
(2004)
Hum. Mutat.
, vol.24
, pp. 388-399
-
-
Pey, A.L.1
Pérez, B.2
Desviat, L.R.3
Martínez, M.A.4
Aguado, C.5
Erlandsen, H.6
Gámez, A.7
Stevens, R.C.8
Thórólfsson, M.9
Ugarte, M.10
Martínez, A.11
-
54
-
-
70450233453
-
-
Lee, J., Johnson, J., Ding, Z., Paetzel, M., and Cornell, R. B. (2009) J. Biol. Chem. 284, 33535-33548
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 33535-33548
-
-
Lee, J.1
Johnson, J.2
Ding, Z.3
Paetzel, M.4
Cornell, R.B.5
-
55
-
-
38949105849
-
-
Velloso, L. M., Bhaskaran, S. S., Schuch, R., Fischetti, V. A., and Stebbins, C. E. (2008) EMBO Rep. 9, 199-205
-
(2008)
EMBO Rep.
, vol.9
, pp. 199-205
-
-
Velloso, L.M.1
Bhaskaran, S.S.2
Schuch, R.3
Fischetti, V.A.4
Stebbins, C.E.5
-
58
-
-
0037931788
-
-
Pauwels, F., Vergauwen, B., Vanrobaeys, F., Devreese, B., and Van Beeumen, J. J. (2003) J. Biol. Chem. 278, 16658-16666
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 16658-16666
-
-
Pauwels, F.1
Vergauwen, B.2
Vanrobaeys, F.3
Devreese, B.4
Van Beeumen, J.J.5
-
59
-
-
0037378765
-
-
Thórólfsson, M., Teigen, K., and Martínez, A. (2003) Biochemistry 42, 3419-3428
-
(2003)
Biochemistry
, vol.42
, pp. 3419-3428
-
-
Thórólfsson, M.1
Teigen, K.2
Martínez, A.3
|