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Volumn 101, Issue 12, 2003, Pages 4808-4815

Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; FIBRINOGEN RECEPTOR; GLYCOPROTEIN IIB;

EID: 0037777629     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-08-2452     Document Type: Article
Times cited : (41)

References (28)
  • 2
    • 0023195433 scopus 로고
    • Biosynthesis and processing of platelet GPIIb-IIIa in human megakaryocytes
    • Duperray A, Berthiere R, Chagnon E, et al. Biosynthesis and processing of platelet GPIIb-IIIa in human megakaryocytes. J Cell Biol. 1987;104:1665-1673.
    • (1987) J Cell Biol , vol.104 , pp. 1665-1673
    • Duperray, A.1    Berthiere, R.2    Chagnon, E.3
  • 4
    • 0028028267 scopus 로고
    • Glanzmann thrombasthenia: New insight from an historical perspective
    • Coller BS, Seligsohn U, Peretz H, Newman PJ. Glanzmann thrombasthenia: new insight from an historical perspective. Semin Hematol. 1994;31:301-311.
    • (1994) Semin Hematol , vol.31 , pp. 301-311
    • Coller, B.S.1    Seligsohn, U.2    Peretz, H.3    Newman, P.J.4
  • 6
    • 0026583536 scopus 로고
    • Proteolytic dissection of the isolated platelet fibrinogen receptor, integrin GPIIb/IIIa: Localization of GPIIb and GPIIIa sequences putatively involved in the subunit interface and in intrasubunit and intrachain contacts
    • Calvete JJ, Mann K, Alvarez MV, Lopez MM, Gonzalez-Rodriguez J. Proteolytic dissection of the isolated platelet fibrinogen receptor, integrin GPIIb/IIIa: localization of GPIIb and GPIIIa sequences putatively involved in the subunit interface and in intrasubunit and intrachain contacts. Biochem J. 1992;282:523-532.
    • (1992) Biochem J , vol.282 , pp. 523-532
    • Calvete, J.J.1    Mann, K.2    Alvarez, M.V.3    Lopez, M.M.4    Gonzalez-Rodriguez, J.5
  • 7
    • 0035850669 scopus 로고    scopus 로고
    • Crystal structure of the extracellular segment of integrin αvβ3
    • Xiong JP, Stehle T, Diefenbach B, et al. Crystal structure of the extracellular segment of integrin αvβ3. Science. 2001;294:339-345.
    • (2001) Science , vol.294 , pp. 339-345
    • Xiong, J.P.1    Stehle, T.2    Diefenbach, B.3
  • 8
    • 0026728176 scopus 로고
    • Examination of the platelet membrane glycoprotein IIb-IIIa complex and its interaction with fibrinogen and other ligands by electron microscopy
    • Weisel JW, Nagaswami C, Vilaire G, Bennett JS. Examination of the platelet membrane glycoprotein IIb-IIIa complex and its interaction with fibrinogen and other ligands by electron microscopy. J Biol Chem. 1992;267:16637-16643.
    • (1992) J Biol Chem , vol.267 , pp. 16637-16643
    • Weisel, J.W.1    Nagaswami, C.2    Vilaire, G.3    Bennett, J.S.4
  • 9
    • 0037031906 scopus 로고    scopus 로고
    • Global conformational rearrangements in integrin extracellular domains in outside-in and inside-out signaling
    • Takagi J, Petre BM, Walz T, Springer T. Global conformational rearrangements in integrin extracellular domains in outside-in and inside-out signaling. Cell. 2002;110:599-611.
    • (2002) Cell , vol.110 , pp. 599-611
    • Takagi, J.1    Petre, B.M.2    Walz, T.3    Springer, T.4
  • 10
    • 0028936301 scopus 로고
    • Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene
    • Peretz H, Rosenberg N, Usher S, et al. Glanzmann's thrombasthenia associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene. Blood. 1995;85:414-421.
    • (1995) Blood , vol.85 , pp. 414-421
    • Peretz, H.1    Rosenberg, N.2    Usher, S.3
  • 11
    • 0031830770 scopus 로고    scopus 로고
    • Glanzmann thrombasthenia in two Iraqi-Jewish siblings is caused by a novel splice junction mutation in the glycoprotein IIb
    • Yatuv R, Rosenberg N, Dardik R, et al. Glanzmann thrombasthenia in two Iraqi-Jewish siblings is caused by a novel splice junction mutation in the glycoprotein IIb. Blood Coagul Fibrinolysis. 1998;9:285-288.
    • (1998) Blood Coagul Fibrinolysis , vol.9 , pp. 285-288
    • Yatuv, R.1    Rosenberg, N.2    Dardik, R.3
  • 12
    • 0031019073 scopus 로고    scopus 로고
    • Platelets mediate tumor cell adhesion to subendothelium under flow conditions: Involvement of platelets GPIIb-IIIa and tumor cell alpha(v) integrins
    • Dardik R, Kaufmann Y, Savion N, et al. Platelets mediate tumor cell adhesion to subendothelium under flow conditions: involvement of platelets GPIIb-IIIa and tumor cell alpha(v) integrins. Int J Cancer. 1997;70:201-207.
    • (1997) Int J Cancer , vol.70 , pp. 201-207
    • Dardik, R.1    Kaufmann, Y.2    Savion, N.3
  • 13
    • 0035883072 scopus 로고    scopus 로고
    • Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: Further lessons from Iraqi-Jewish Glanzmann thrombasthenia
    • Yatuv R, Rosenberg N, Zivelin A, et al. Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: further lessons from Iraqi-Jewish Glanzmann thrombasthenia. Blood. 2001;98:1063-1069.
    • (2001) Blood , vol.98 , pp. 1063-1069
    • Yatuv, R.1    Rosenberg, N.2    Zivelin, A.3
  • 14
    • 0023607232 scopus 로고
    • Comparison of cDNA-derived protein sequences of the human fibronectin and vitronectin receptor alpha-subunits and platelet glycoprotein IIb
    • Fitzgerald LA, Poncz M, Steiner B, Rall SC Jr, Bennett JS, Phillips DR. Comparison of cDNA-derived protein sequences of the human fibronectin and vitronectin receptor alpha-subunits and platelet glycoprotein IIb. Biochemistry. 1987;26:8158-8165.
    • (1987) Biochemistry , vol.26 , pp. 8158-8165
    • Fitzgerald, L.A.1    Poncz, M.2    Steiner, B.3    Rall S.C., Jr.4    Bennett, J.S.5    Phillips, D.R.6
  • 15
    • 0022336792 scopus 로고
    • Calculation of protein conformations by proton-proton distance constraints: A new efficient algorithm
    • Braun W, Go N. Calculation of protein conformations by proton-proton distance constraints: a new efficient algorithm. J Mol Biol. 1985;186:611-626.
    • (1985) J Mol Biol , vol.186 , pp. 611-626
    • Braun, W.1    Go, N.2
  • 17
    • 0030753787 scopus 로고    scopus 로고
    • A three amino acid deletion in glycoprotein IIIa is responsible for type I Glanzmann's thrombasthenia: Importance of residues IIe325Pro326Gly327 for β3 integrin subunit association
    • Morel-Kopp MC, Kaplan C, Proulle V, et al. A three amino acid deletion in glycoprotein IIIa is responsible for type I Glanzmann's thrombasthenia: importance of residues IIe325Pro326Gly327 for β3 integrin subunit association. Blood. 1997;90:669-677.
    • (1997) Blood , vol.90 , pp. 669-677
    • Morel-Kopp, M.C.1    Kaplan, C.2    Proulle, V.3
  • 18
    • 0032531431 scopus 로고    scopus 로고
    • A Gln747Pro substitution in the αIIb subunit is responsible for a moderate αIIbβ3 deficiency in Glanzmann thrombasthenia
    • Tadokoro S, Tomiyama Y, Honda S, et al. A Gln747Pro substitution in the αIIb subunit is responsible for a moderate αIIbβ3 deficiency in Glanzmann thrombasthenia. Blood, 1998;92:2750-2758.
    • (1998) Blood , vol.92 , pp. 2750-2758
    • Tadokoro, S.1    Tomiyama, Y.2    Honda, S.3
  • 19
    • 0345004833 scopus 로고    scopus 로고
    • Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: Disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes
    • Gonzalez-Manchon C, Fernandez-Pinel M, Arias-Sakgado EG, et al. Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes. Blood. 1999;93:866-875.
    • (1999) Blood , vol.93 , pp. 866-875
    • Gonzalez-Manchon, C.1    Fernandez-Pinel, M.2    Arias-Sakgado, E.G.3
  • 20
    • 0025996473 scopus 로고
    • Effect of deletion of glycoprotein IIb exon 28 on the expression of the platelet glycoprotein IIb/IIIa complex
    • Kolodziej MA, Vilaire G, Rifat S, Poncz M, Bennett JS. Effect of deletion of glycoprotein IIb exon 28 on the expression of the platelet glycoprotein IIb/IIIa complex. Blood. 1991;78:2344-2353.
    • (1991) Blood , vol.78 , pp. 2344-2353
    • Kolodziej, M.A.1    Vilaire, G.2    Rifat, S.3    Poncz, M.4    Bennett, J.S.5
  • 21
    • 0028117258 scopus 로고
    • An exon 28 mutation resulting in alternative splicing of the glycoprotein IIb transcript and Glanzmann's thrombasthenia
    • Iwamoto S, Nishiumi E, Kajii E, Ikemoto S. An exon 28 mutation resulting in alternative splicing of the glycoprotein IIb transcript and Glanzmann's thrombasthenia. Blood. 1994;83:1017-1023.
    • (1994) Blood , vol.83 , pp. 1017-1023
    • Iwamoto, S.1    Nishiumi, E.2    Kajii, E.3    Ikemoto, S.4
  • 22
    • 0029842409 scopus 로고    scopus 로고
    • A nonsense mutation in the GPIIb heavy chain (Ser 870→stop) impairs platelet GPIIb-IIIa expression
    • Vinciguerra C, Khelif A, Alemany M, et al. A nonsense mutation in the GPIIb heavy chain (Ser 870→stop) impairs platelet GPIIb-IIIa expression. Br J Haematol. 1996;95:399-407.
    • (1996) Br J Haematol , vol.95 , pp. 399-407
    • Vinciguerra, C.1    Khelif, A.2    Alemany, M.3
  • 23
    • 0026537207 scopus 로고
    • Role of the transmembrane and cytoplasmic domains in the assembly and surface exposure of the platelet integrin GPIIb/IIIa
    • Frachet P, Duperray A, Delachanal E, Marguerie G. Role of the transmembrane and cytoplasmic domains in the assembly and surface exposure of the platelet integrin GPIIb/IIIa. Biochemistry. 1992;31:2408-2415.
    • (1992) Biochemistry , vol.31 , pp. 2408-2415
    • Frachet, P.1    Duperray, A.2    Delachanal, E.3    Marguerie, G.4
  • 24
    • 0036212986 scopus 로고    scopus 로고
    • Nonsense mutation in exon-19 of GPIIb associated with thrombasthenic phenotype: Failure of GPIIb (597-1008) to form stable complexes with GPIIIa
    • Arias-Salgado EG, Tao J, Gonzalez-Manchon C, et al. Nonsense mutation in exon-19 of GPIIb associated with thrombasthenic phenotype: failure of GPIIb (597-1008) to form stable complexes with GPIIIa. Thromb Haemost. 2002;87:684-691.
    • (2002) Thromb Haemost , vol.87 , pp. 684-691
    • Arias-Salgado, E.G.1    Tao, J.2    Gonzalez-Manchon, C.3
  • 25
    • 0038162840 scopus 로고    scopus 로고
    • The molecular pathology of Glanzmann's thrombasthenia
    • Rao GHR, ed. Boston, MA: Kluwer Academic Publishers
    • French D. The molecular pathology of Glanzmann's thrombasthenia. In: Rao GHR, ed. Handbook of Platelet Physiology and Pharmacology. Boston, MA: Kluwer Academic Publishers; 1999:394-423.
    • (1999) Handbook of Platelet Physiology and Pharmacology , pp. 394-423
    • French, D.1
  • 26
    • 0028358415 scopus 로고
    • Clues for understanding the structure and function of a prototypic human integrin: The platelet glycoprotein IIb/IIIa complex
    • Calvete JJ. Clues for understanding the structure and function of a prototypic human integrin: the platelet glycoprotein IIb/IIIa complex. Thromb Haemost. 1994;72:1-15.
    • (1994) Thromb Haemost , vol.72 , pp. 1-15
    • Calvete, J.J.1
  • 27
    • 0022450133 scopus 로고
    • Amino-aromatic interactions in proteins
    • Burley S, Petsko G. Amino-aromatic interactions in proteins. FEBS Lett. 1986;203:139-143.
    • (1986) FEBS Lett , vol.203 , pp. 139-143
    • Burley, S.1    Petsko, G.2
  • 28
    • 0034295617 scopus 로고    scopus 로고
    • How does ammonium interact with aromatic group? A density functional theory (DFT/B3LYP) investigation
    • Zhu WL, Tan XJ, Puah CM, et al. How does ammonium interact with aromatic group? A density functional theory (DFT/B3LYP) investigation. J Phys Chem. 2000;104:9573-9580.
    • (2000) J Phys Chem , vol.104 , pp. 9573-9580
    • Zhu, W.L.1    Tan, X.J.2    Puah, C.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.