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. 1999 Jun;64(6):1493–1498. doi: 10.1086/302433

From the ER to the golgi: insights from the study of combined factors V and VIII deficiency.

W C Nichols 1, D Ginsburg 1
PMCID: PMC1377892  PMID: 10330336

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Arar C., Carpentier V., Le Caer J. P., Monsigny M., Legrand A., Roche A. C. ERGIC-53, a membrane protein of the endoplasmic reticulum-Golgi intermediate compartment, is identical to MR60, an intracellular mannose-specific lectin of myelomonocytic cells. J Biol Chem. 1995 Feb 24;270(8):3551–3553. doi: 10.1074/jbc.270.8.3551. [DOI] [PubMed] [Google Scholar]
  2. Aridor M., Weissman J., Bannykh S., Nuoffer C., Balch W. E. Cargo selection by the COPII budding machinery during export from the ER. J Cell Biol. 1998 Apr 6;141(1):61–70. doi: 10.1083/jcb.141.1.61. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Ashkenas J., Byers P. H. The final stage of gene expression: chaperones and the regulation of protein fate. Am J Hum Genet. 1997 Aug;61(2):267–272. doi: 10.1086/514865. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Bannykh S. I., Balch W. E. Selective transport of cargo between the endoplasmic reticulum and Golgi compartments. Histochem Cell Biol. 1998 May-Jun;109(5-6):463–475. doi: 10.1007/s004180050248. [DOI] [PubMed] [Google Scholar]
  5. Bannykh S. I., Nishimura N., Balch W. E. Getting into the Golgi. Trends Cell Biol. 1998 Jan;8(1):21–25. doi: 10.1016/s0962-8924(97)01184-7. [DOI] [PubMed] [Google Scholar]
  6. Barlowe C. COPII and selective export from the endoplasmic reticulum. Biochim Biophys Acta. 1998 Aug 14;1404(1-2):67–76. doi: 10.1016/s0167-4889(98)00047-0. [DOI] [PubMed] [Google Scholar]
  7. Campbell J. L., Schekman R. Selective packaging of cargo molecules into endoplasmic reticulum-derived COPII vesicles. Proc Natl Acad Sci U S A. 1997 Feb 4;94(3):837–842. doi: 10.1073/pnas.94.3.837. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Fiedler K., Simons K. A putative novel class of animal lectins in the secretory pathway homologous to leguminous lectins. Cell. 1994 Jun 3;77(5):625–626. doi: 10.1016/0092-8674(94)90047-7. [DOI] [PubMed] [Google Scholar]
  9. Fiedler K., Veit M., Stamnes M. A., Rothman J. E. Bimodal interaction of coatomer with the p24 family of putative cargo receptors. Science. 1996 Sep 6;273(5280):1396–1399. doi: 10.1126/science.273.5280.1396. [DOI] [PubMed] [Google Scholar]
  10. Gaynor E. C., Emr S. D. COPI-independent anterograde transport: cargo-selective ER to Golgi protein transport in yeast COPI mutants. J Cell Biol. 1997 Feb 24;136(4):789–802. doi: 10.1083/jcb.136.4.789. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Gaynor E. C., Graham T. R., Emr S. D. COPI in ER/Golgi and intra-Golgi transport: do yeast COPI mutants point the way? Biochim Biophys Acta. 1998 Aug 14;1404(1-2):33–51. doi: 10.1016/s0167-4889(98)00045-7. [DOI] [PubMed] [Google Scholar]
  12. Harter C. COP-coated vesicles in intracellular protein transport. FEBS Lett. 1995 Aug 1;369(1):89–92. doi: 10.1016/0014-5793(95)00621-f. [DOI] [PubMed] [Google Scholar]
  13. Itin C., Roche A. C., Monsigny M., Hauri H. P. ERGIC-53 is a functional mannose-selective and calcium-dependent human homologue of leguminous lectins. Mol Biol Cell. 1996 Mar;7(3):483–493. doi: 10.1091/mbc.7.3.483. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Jackson M. R., Nilsson T., Peterson P. A. Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulum. EMBO J. 1990 Oct;9(10):3153–3162. doi: 10.1002/j.1460-2075.1990.tb07513.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Kappeler F., Klopfenstein D. R., Foguet M., Paccaud J. P., Hauri H. P. The recycling of ERGIC-53 in the early secretory pathway. ERGIC-53 carries a cytosolic endoplasmic reticulum-exit determinant interacting with COPII. J Biol Chem. 1997 Dec 12;272(50):31801–31808. doi: 10.1074/jbc.272.50.31801. [DOI] [PubMed] [Google Scholar]
  16. Kaufman R. J. Post-translational modifications required for coagulation factor secretion and function. Thromb Haemost. 1998 Jun;79(6):1068–1079. [PubMed] [Google Scholar]
  17. Kuehn M. J., Herrmann J. M., Schekman R. COPII-cargo interactions direct protein sorting into ER-derived transport vesicles. Nature. 1998 Jan 8;391(6663):187–190. doi: 10.1038/34438. [DOI] [PubMed] [Google Scholar]
  18. Matsuoka K., Orci L., Amherdt M., Bednarek S. Y., Hamamoto S., Schekman R., Yeung T. COPII-coated vesicle formation reconstituted with purified coat proteins and chemically defined liposomes. Cell. 1998 Apr 17;93(2):263–275. doi: 10.1016/s0092-8674(00)81577-9. [DOI] [PubMed] [Google Scholar]
  19. Neerman-Arbez M., Antonarakis S. E., Blouin J. L., Zeinali S., Akhtari M., Afshar Y., Tuddenham E. G. The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103. Am J Hum Genet. 1997 Jul;61(1):143–150. doi: 10.1086/513897. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Neerman-Arbez M., Johnson K. M., Morris M. A., McVey J. H., Peyvandi F., Nichols W. C., Ginsburg D., Rossier C., Antonarakis S. E., Tuddenham E. G. Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. Blood. 1999 Apr 1;93(7):2253–2260. [PubMed] [Google Scholar]
  21. Nichols W. C., Seligsohn U., Zivelin A., Terry V. H., Arnold N. D., Siemieniak D. R., Kaufman R. J., Ginsburg D. Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping. J Clin Invest. 1997 Feb 15;99(4):596–601. doi: 10.1172/JCI119201. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Nichols W. C., Seligsohn U., Zivelin A., Terry V. H., Hertel C. E., Wheatley M. A., Moussalli M. J., Hauri H. P., Ciavarella N., Kaufman R. J. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell. 1998 Apr 3;93(1):61–70. doi: 10.1016/s0092-8674(00)81146-0. [DOI] [PubMed] [Google Scholar]
  23. Nichols W. C., Terry V. H., Wheatley M. A., Yang A., Zivelin A., Ciavarella N., Stefanile C., Matsushita T., Saito H., de Bosch N. B. ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. Blood. 1999 Apr 1;93(7):2261–2266. [PubMed] [Google Scholar]
  24. OERI J., MATTER M., ISENSCHMID H., HAUSER F., KOLLER F. Angeborener Mangel an Faktor V (Parahaemophilie) verbunden mit echter Haemophilie A bei zwei Brüdern. Bibl Paediatr. 1954;58:575–588. [PubMed] [Google Scholar]
  25. Pipe S. W., Morris J. A., Shah J., Kaufman R. J. Differential interaction of coagulation factor VIII and factor V with protein chaperones calnexin and calreticulin. J Biol Chem. 1998 Apr 3;273(14):8537–8544. doi: 10.1074/jbc.273.14.8537. [DOI] [PubMed] [Google Scholar]
  26. Presley J. F., Cole N. B., Schroer T. A., Hirschberg K., Zaal K. J., Lippincott-Schwartz J. ER-to-Golgi transport visualized in living cells. Nature. 1997 Sep 4;389(6646):81–85. doi: 10.1038/38001. [DOI] [PubMed] [Google Scholar]
  27. Riordan J. R. Cystic fibrosis as a disease of misprocessing of the cystic fibrosis transmembrane conductance regulator glycoprotein. Am J Hum Genet. 1999 Jun;64(6):1499–1504. doi: 10.1086/302429. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Rothman J. E., Wieland F. T. Protein sorting by transport vesicles. Science. 1996 Apr 12;272(5259):227–234. doi: 10.1126/science.272.5259.227. [DOI] [PubMed] [Google Scholar]
  29. Scales S. J., Pepperkok R., Kreis T. E. Visualization of ER-to-Golgi transport in living cells reveals a sequential mode of action for COPII and COPI. Cell. 1997 Sep 19;90(6):1137–1148. doi: 10.1016/s0092-8674(00)80379-7. [DOI] [PubMed] [Google Scholar]
  30. Schekman R., Mellman I. Does COPI go both ways? Cell. 1997 Jul 25;90(2):197–200. doi: 10.1016/s0092-8674(00)80326-8. [DOI] [PubMed] [Google Scholar]
  31. Schekman R., Orci L. Coat proteins and vesicle budding. Science. 1996 Mar 15;271(5255):1526–1533. doi: 10.1126/science.271.5255.1526. [DOI] [PubMed] [Google Scholar]
  32. Schimmöller F., Singer-Krüger B., Schröder S., Krüger U., Barlowe C., Riezman H. The absence of Emp24p, a component of ER-derived COPII-coated vesicles, causes a defect in transport of selected proteins to the Golgi. EMBO J. 1995 Apr 3;14(7):1329–1339. doi: 10.1002/j.1460-2075.1995.tb07119.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  33. Schröder S., Schimmöller F., Singer-Krüger B., Riezman H. The Golgi-localization of yeast Emp47p depends on its di-lysine motif but is not affected by the ret1-1 mutation in alpha-COP. J Cell Biol. 1995 Nov;131(4):895–912. doi: 10.1083/jcb.131.4.895. [DOI] [PMC free article] [PubMed] [Google Scholar]
  34. Springer S., Schekman R. Nucleation of COPII vesicular coat complex by endoplasmic reticulum to Golgi vesicle SNAREs. Science. 1998 Jul 31;281(5377):698–700. doi: 10.1126/science.281.5377.698. [DOI] [PubMed] [Google Scholar]
  35. Stamnes M. A., Craighead M. W., Hoe M. H., Lampen N., Geromanos S., Tempst P., Rothman J. E. An integral membrane component of coatomer-coated transport vesicles defines a family of proteins involved in budding. Proc Natl Acad Sci U S A. 1995 Aug 15;92(17):8011–8015. doi: 10.1073/pnas.92.17.8011. [DOI] [PMC free article] [PubMed] [Google Scholar]
  36. Tisdale E. J., Plutner H., Matteson J., Balch W. E. p53/58 binds COPI and is required for selective transport through the early secretory pathway. J Cell Biol. 1997 May 5;137(3):581–593. doi: 10.1083/jcb.137.3.581. [DOI] [PMC free article] [PubMed] [Google Scholar]
  37. Vollenweider F., Kappeler F., Itin C., Hauri H. P. Mistargeting of the lectin ERGIC-53 to the endoplasmic reticulum of HeLa cells impairs the secretion of a lysosomal enzyme. J Cell Biol. 1998 Jul 27;142(2):377–389. doi: 10.1083/jcb.142.2.377. [DOI] [PMC free article] [PubMed] [Google Scholar]

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