-
1
-
-
19444368098
-
Congenital factor V deficiency (parahemophilia) with true hemophilia in two brothers
-
Oeri J. Congenital factor V deficiency (parahemophilia) with true hemophilia in two brothers. Bibl. Paediatr. 58 (1954) 575-588
-
(1954)
Bibl. Paediatr.
, vol.58
, pp. 575-588
-
-
Oeri, J.1
-
2
-
-
47049131483
-
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII
-
Zhang B., Spreafico M., Zheng C., Yang A., Platzer P., Callaghan M.U., Avci Z., Ozbek N., Mahlangu J., Haw T., Kaufman R.J., Marchant K., Tuddenham E.G.D., Seligsohn U., Peyvandi F., and Ginsburg D. Genotype-phenotype correlation in combined deficiency of factor V and factor VIII. Blood 111 (2008) 5592-5600
-
(2008)
Blood
, vol.111
, pp. 5592-5600
-
-
Zhang, B.1
Spreafico, M.2
Zheng, C.3
Yang, A.4
Platzer, P.5
Callaghan, M.U.6
Avci, Z.7
Ozbek, N.8
Mahlangu, J.9
Haw, T.10
Kaufman, R.J.11
Marchant, K.12
Tuddenham, E.G.D.13
Seligsohn, U.14
Peyvandi, F.15
Ginsburg, D.16
-
3
-
-
0032478548
-
Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII
-
Nichols W.C., Seligsohn U., Zivelin A., Terry V.H., Hertel C.E., Weatley M.A., Moussalli M., Hauri H.P., Ciavarella N., Kaufman R.J., and Ginsburg D. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 93 (1998) 61-70
-
(1998)
Cell
, vol.93
, pp. 61-70
-
-
Nichols, W.C.1
Seligsohn, U.2
Zivelin, A.3
Terry, V.H.4
Hertel, C.E.5
Weatley, M.A.6
Moussalli, M.7
Hauri, H.P.8
Ciavarella, N.9
Kaufman, R.J.10
Ginsburg, D.11
-
4
-
-
0038278822
-
Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex
-
Zhang B., Cunningham M.A., Nichols W.C., Bernat J.A., Seligsohn U., Pipe S.W., McVey J.H., Shulte-Overberg U., de Bosch N.B., Ruiz-Saez A., White G.C., Tuddenham E.G., Kaufman R.J., and Ginsburg D. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat. Genet. 34 (2003) 220-225
-
(2003)
Nat. Genet.
, vol.34
, pp. 220-225
-
-
Zhang, B.1
Cunningham, M.A.2
Nichols, W.C.3
Bernat, J.A.4
Seligsohn, U.5
Pipe, S.W.6
McVey, J.H.7
Shulte-Overberg, U.8
de Bosch, N.B.9
Ruiz-Saez, A.10
White, G.C.11
Tuddenham, E.G.12
Kaufman, R.J.13
Ginsburg, D.14
-
5
-
-
21844438479
-
LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway
-
Zhang B., Kaufman R.J., and Ginsburg D. LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway. J. Biol. Chem. 280 (2005) 25881-25886
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 25881-25886
-
-
Zhang, B.1
Kaufman, R.J.2
Ginsburg, D.3
-
6
-
-
41349121801
-
The sugar-binding ability of ERGIC-53 is enhanced by its interaction with MCFD2
-
Kawasaki N., Ichikawa Y., Matsuo I., Totani K., Matsumoto N., Ito Y., and Yamamoto K. The sugar-binding ability of ERGIC-53 is enhanced by its interaction with MCFD2. Blood 111 (2008) 1972-1979
-
(2008)
Blood
, vol.111
, pp. 1972-1979
-
-
Kawasaki, N.1
Ichikawa, Y.2
Matsuo, I.3
Totani, K.4
Matsumoto, N.5
Ito, Y.6
Yamamoto, K.7
-
7
-
-
48449089504
-
New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2
-
Guy J.E., Wigren E., Svärd M., Härd T., and Lindqvist Y. New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2. J. Mol. Biol. 381 (2008) 941-955
-
(2008)
J. Mol. Biol.
, vol.381
, pp. 941-955
-
-
Guy, J.E.1
Wigren, E.2
Svärd, M.3
Härd, T.4
Lindqvist, Y.5
-
9
-
-
27744508476
-
Oligomerization and intracellular localization of the glycoprotein receptor ERGIC-53 is independent of disulfide bonds
-
Neve E.P.A., Lahtinen U., and Pettersson R.F. Oligomerization and intracellular localization of the glycoprotein receptor ERGIC-53 is independent of disulfide bonds. J. Mol. Biol. 354 (2005) 556-568
-
(2005)
J. Mol. Biol.
, vol.354
, pp. 556-568
-
-
Neve, E.P.A.1
Lahtinen, U.2
Pettersson, R.F.3
-
10
-
-
33745485316
-
The ER-Golgi intermediate compartment (ERGIC): in search of its identity and function
-
Appenzeller-Herzog C., and Hauri H.P. The ER-Golgi intermediate compartment (ERGIC): in search of its identity and function. J. Cell Sci. 119 (2006) 2173-2183
-
(2006)
J. Cell Sci.
, vol.119
, pp. 2173-2183
-
-
Appenzeller-Herzog, C.1
Hauri, H.P.2
-
11
-
-
40849088166
-
Identification of ERGIC-53 as an intracellular transport receptor of alpha1-antitrypsin
-
Nyfeler B., Reiterer V., Wendeler M.W., Stefan E., Zhang B., Michnick S.W., and Hauri H.P. Identification of ERGIC-53 as an intracellular transport receptor of alpha1-antitrypsin. J. Cell Biol. 180 (2008) 705-712
-
(2008)
J. Cell Biol.
, vol.180
, pp. 705-712
-
-
Nyfeler, B.1
Reiterer, V.2
Wendeler, M.W.3
Stefan, E.4
Zhang, B.5
Michnick, S.W.6
Hauri, H.P.7
-
12
-
-
49649122527
-
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44
-
Fraldi A., Zito E., Annunziata F., Lombardi A., Cozzolino M., Monti M., Spampanato C., Ballabio A., Pucci P., Sitia R., and Cosma M.P. Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44. Hum. Mol. Genet. 17 (2008) 2610-2621
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 2610-2621
-
-
Fraldi, A.1
Zito, E.2
Annunziata, F.3
Lombardi, A.4
Cozzolino, M.5
Monti, M.6
Spampanato, C.7
Ballabio, A.8
Pucci, P.9
Sitia, R.10
Cosma, M.P.11
-
13
-
-
0037013292
-
Crystal structure of the carbohydrate recognition domain of p58/ERGIC-53, a protein involved in glycoprotein export from the endoplasmic reticulum
-
Velloso L.M., Svensson K., Schneider G., Pettersson R.F., and Lindqvist Y. Crystal structure of the carbohydrate recognition domain of p58/ERGIC-53, a protein involved in glycoprotein export from the endoplasmic reticulum. J. Biol. Chem. 277 (2002) 15979-15984
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 15979-15984
-
-
Velloso, L.M.1
Svensson, K.2
Schneider, G.3
Pettersson, R.F.4
Lindqvist, Y.5
-
14
-
-
0344873595
-
The crystal structure of the carbohydrate-recognition domain of the glycoprotein sorting receptor p58/ERGIC-53 reveals an unpredicted metal-binding site and conformational changes associated with calcium ion binding
-
Velloso L.M., Svensson K., Pettersson R.F., and Lindqvist Y. The crystal structure of the carbohydrate-recognition domain of the glycoprotein sorting receptor p58/ERGIC-53 reveals an unpredicted metal-binding site and conformational changes associated with calcium ion binding. J. Mol. Biol. 334 (2003) 845-851
-
(2003)
J. Mol. Biol.
, vol.334
, pp. 845-851
-
-
Velloso, L.M.1
Svensson, K.2
Pettersson, R.F.3
Lindqvist, Y.4
-
15
-
-
70449591906
-
A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII
-
Yamada T., Fujimori Y., Suzuki A., Miyawaki Y., Takagi A., Murate T., Sano M., Matsushita T., Saito H., and Kojima T. A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII. Am. J. Hematol. 84 (2009) 738-742
-
(2009)
Am. J. Hematol.
, vol.84
, pp. 738-742
-
-
Yamada, T.1
Fujimori, Y.2
Suzuki, A.3
Miyawaki, Y.4
Takagi, A.5
Murate, T.6
Sano, M.7
Matsushita, T.8
Saito, H.9
Kojima, T.10
-
16
-
-
38949176056
-
Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency
-
Nyfeler B., Kamiyaa Y., Boehlen F., Yamamoto K., Kato K., de Moerloose P., Hauri H.P., and Neerman-Arbez M. Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency. Blood 111 (2008) 1299-1301
-
(2008)
Blood
, vol.111
, pp. 1299-1301
-
-
Nyfeler, B.1
Kamiyaa, Y.2
Boehlen, F.3
Yamamoto, K.4
Kato, K.5
de Moerloose, P.6
Hauri, H.P.7
Neerman-Arbez, M.8
-
17
-
-
58149140521
-
The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene
-
Ivaskevicius V., Windyga J., Baran B., Bykowska K., Daugela L., Watzka M., Seifried E., and Oldenburg J. The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene. Blood Coagul. Fibrinolysis 19 (2008) 531-534
-
(2008)
Blood Coagul. Fibrinolysis
, vol.19
, pp. 531-534
-
-
Ivaskevicius, V.1
Windyga, J.2
Baran, B.3
Bykowska, K.4
Daugela, L.5
Watzka, M.6
Seifried, E.7
Oldenburg, J.8
-
18
-
-
14844294424
-
Protein production by auto-induction in high density shaking cultures
-
Studier F.W. Protein production by auto-induction in high density shaking cultures. Protein Expr. Purif. 41 (2005) 207-234
-
(2005)
Protein Expr. Purif.
, vol.41
, pp. 207-234
-
-
Studier, F.W.1
-
19
-
-
0027879008
-
Automatic processing of rotation diffraction data from crystals of initially unknown symmetry and cell constants
-
Kabsch W. Automatic processing of rotation diffraction data from crystals of initially unknown symmetry and cell constants. J. Appl. Cryst. 26 (1993) 795-800
-
(1993)
J. Appl. Cryst.
, vol.26
, pp. 795-800
-
-
Kabsch, W.1
-
20
-
-
0028103275
-
-
Collaborative Computational Project, Number 4. (1994). The CCP4 Suite: Programs for Protein Crystallography. Acta Cryst. D 50, 760-763.
-
Collaborative Computational Project, Number 4. (1994). The CCP4 Suite: Programs for Protein Crystallography. Acta Cryst. D 50, 760-763.
-
-
-
-
21
-
-
34447508216
-
Phaser crystallographic software
-
McCoy A.J., Grosse-Kunstleve R.W., Adams P.D., Winn M.D., Storoni L.C., and Read R.J. Phaser crystallographic software. J. Appl. Cryst. 40 (2007) 658-674
-
(2007)
J. Appl. Cryst.
, vol.40
, pp. 658-674
-
-
McCoy, A.J.1
Grosse-Kunstleve, R.W.2
Adams, P.D.3
Winn, M.D.4
Storoni, L.C.5
Read, R.J.6
-
23
-
-
77949535720
-
-
Emsley, P. Lohkamp, B., Scott W.G. and Cowtan, K. (2010) Features and Development of Coot. Acta Cryst. D 66 (in press).
-
Emsley, P. Lohkamp, B., Scott W.G. and Cowtan, K. (2010) Features and Development of Coot. Acta Cryst. D 66 (in press).
-
-
-
-
24
-
-
0030924992
-
Refinement of macromolecular structures by the maximum-likelihood method
-
Murshudov G.N., Vagin A.A., and Dodson E.J. Refinement of macromolecular structures by the maximum-likelihood method. Acta Cryst. D 53 (1997) 240-255
-
(1997)
Acta Cryst. D
, vol.53
, pp. 240-255
-
-
Murshudov, G.N.1
Vagin, A.A.2
Dodson, E.J.3
-
25
-
-
76749102606
-
-
DeLano Scientific, San Carlos, CA
-
W.L. DeLano, The PyMOL Molecular Graphics System, DeLano Scientific, San Carlos, CA (2002) http://www.pymol.org.
-
(2002)
-
-
DeLano, W.L.1
|