User menu

A Novel Splice-Site Mutation in Angiotensin I-Converting Enzyme (ACE) Gene, c.3691+1G>A (IVS25+1G>A), Causes a Dramatic Increase in Circulating ACE through Deletion of the Transmembrane Anchor.

Bibliographic reference Persu, Alexandre ; Lambert, Michel ; Deinum, Jaap ; Cossu, Marta ; de Visscher, Nathalie ; et. al. A Novel Splice-Site Mutation in Angiotensin I-Converting Enzyme (ACE) Gene, c.3691+1G>A (IVS25+1G>A), Causes a Dramatic Increase in Circulating ACE through Deletion of the Transmembrane Anchor.. In: PLoS One, Vol. 8, no. 4, p. e59537 (2013)
Permanent URL
  1. Ehlers Mario R. W., Riordan James F., Angiotensin-converting enzyme: new concepts concerning its biological role, 10.1021/bi00439a001
  2. KE Bernstein, 96, 1135 (2005)
  3. Sturrock ED Anthony C, Danilov SM (2012) Peptidyl-dipeptidase A/Angiotensin I-converting enzyme. In: Barret AA, Rawlings ND, Woessner JF, editors. Handbook of Proteolytic Enzymes. Elsevier Academic Press, New York, 332–349.
  4. C Hubert, J Biol Chem, 266, 15377 (1991)
  5. HA El-Dorry, 115, 1096 (1983)
  6. Soubrier F., Alhenc-Gelas F., Hubert C., Allegrini J., John M., Tregear G., Corvol P., Two putative active centers in human angiotensin I-converting enzyme revealed by molecular cloning., 10.1073/pnas.85.24.9386
  7. Ehlers M. R., Fox E. A., Strydom D. J., Riordan J. F., Molecular cloning of human testicular angiotensin-converting enzyme: the testis isozyme is identical to the C-terminal half of endothelial angiotensin-converting enzyme., 10.1073/pnas.86.20.7741
  8. Ryan J W, Ryan U S, Schultz D R, Whitaker C, Chung A, Dorer F E, Subcellular localization of pulmonary antiotensin-converting enzyme (kininase II), 10.1042/bj1460497
  9. Caldwell P., Seegal B., Hsu K., Das M, Soffer R., Angiotensin-converting enzyme: vascular endothelial localization, 10.1126/science.175444
  10. Defending Richard, Zimmerman Earl A., Weare John A., Alhenc-Gelas François, Erdös Ervin G., Angiotensin-Converting Enzyme in Epithelial and Neuroepithelial Cells, 10.1159/000123512
  11. NM Hooper, Purification and characterization of amphipatic and hydrophilic forms of the enzyme establishes C-terminal anchorage to the plasma membrane, Biochem J, 247, 85 (1987)
  12. Franke FE, Metzger R, Bohle R-M, Kerkman L, Alhenc-Gelas F, et al.. (1997) Angiotensin I-Converting Enzyme (CD 143) on endothelial cells in normal and in pathological conditions. In: Kishimoto T. et al.., editors. Leucocyte Typing VI: White Cell Differentiation Antigens. Garland Publishing Inc. New York, 1997, 749–751.
  13. Metzger Roman, Franke Folker E., Bohle Rainer M., Alhenc-Gelas François, Danilov Sergei M., Heterogeneous distribution of angiotensin I-converting enzyme (CD143) in the human and rat vascular systems: Vessel, organ and species specificity, 10.1016/j.mvr.2010.12.003
  14. E Silverstein, 14, 314 (1978)
  15. Danilov Sergei M, Sadovnikova Elena, Scharenborg Nicole, Balyasnikova Irina V, Svinareva Daria A, Semikina Elena L, Parovichnikova Elena N, Savchenko Valery G, Adema Gosse J, Angiotensin-converting enzyme (CD143) is abundantly expressed by dendritic cells and discriminates human monocyte-derived dendritic cells from acute myeloid leukemia-derived dendritic cells, 10.1016/j.exphem.2003.08.018
  16. AJ Chubb, 297, 1225 (2002)
  17. Ching S. F., Hayes L. W., Slakey L. L., Angiotensin-converting enzyme in cultured endothelial cells. Synthesis, degradation, and transfer to culture medium, 10.1161/01.atv.3.6.581
  18. L Wei, 266, 5540 (1991)
  19. V Beldent, 268, 26428 (1993)
  20. WOODMAN Zenda L., OPPONG Sylvester Y., COOK Sarah, HOOPER Nigel M., SCHWAGER Sylva L. U., BRANDT Wolf F., EHLERS Mario R. W., STURROCK Edward D., Shedding of somatic angiotensin-converting enzyme (ACE) is inefficient compared with testis ACE despite cleavage at identical stalk sites, 10.1042/bj3470711
  21. ET Parkin, 11, 423 (2004)
  22. F Alhenc-Gelas, 117, 33 (1991)
  23. J Lieberman, 59, 365 (1975)
  24. J Lieberman, 294, 1442 (1976)
  25. E Silverstein, 278, 498 (1976)
  26. Kramers C., Danilov S. M., Deinum J., Balyasnikova I. V., Scharenborg N., Looman M., Boomsma F., de Keijzer M. H., van Duijn C., Martin S., Soubrier F., Adema G. J., Point Mutation in the Stalk of Angiotensin-Converting Enzyme Causes a Dramatic Increase in Serum Angiotensin-Converting Enzyme But No Cardiovascular Disease, 10.1161/hc3601.095932
  27. Nesterovitch Andrew B., Hogarth Kyle D., Adarichev Vyacheslav A., Vinokour Elena I., Schwartz David E., Solway Julian, Danilov Sergei M., Angiotensin I-Converting Enzyme Mutation (Trp1197Stop) Causes a Dramatic Increase in Blood ACE, 10.1371/journal.pone.0008282
  28. Danilov Sergei M., Gordon Kerry, Nesterovitch Andrew B., Lünsdorf Heinrich, Chen Zhenlong, Castellon Maricela, Popova Isolda A., Kalinin Sergey, Mendonca Emma, Petukhov Pavel A., Schwartz David E., Minshall Richard D., Sturrock Edward D., An Angiotensin I-Converting Enzyme Mutation (Y465D) Causes a Dramatic Increase in Blood ACE via Accelerated ACE Shedding, 10.1371/journal.pone.0025952
  29. Y Kasahara, 27, 1922 (1981)
  30. Piquilloud Yvonne, Reinharz Anja, Roth M., Studies on the angiotensin converting enzyme with different substrates, 10.1016/0005-2744(70)90090-2
  31. J Friedland, Am J Pathol, 66, 416 (1976)
  32. S Klotz, 30, 805 (2009)
  33. B Tom, 23, 251 (2003)
  34. S Danilov, J Biol Chem, 269, 26806 (1994)
  35. SM Danilov, 9, 5782 (2010)
  36. IY Sakharov, Biokhimiya), 56, 55 (1991)
  37. Balyasnikova I.V., Metzger R., Franke F.E., Danilov S.M., Monoclonal antibodies to denatured human ACE (CD 143), broad species specificity, reactivity on paraffin sections, and detection of subtle conformational changes in the C-terminal domain of ACE, 10.1034/j.1399-0039.2003.610104.x
  38. Balyasnikova Irina V., Sun Zhu-Li, Franke Folker E., Berestetskaya Yulia V., Chubb Antony J., Albrecht Ronald F., Sturrock Edward D., Danilov Sergei M., Monoclonal Antibodies 1B3 and 5C8 as Probes for Monitoring the Integrity of the C-Terminal End of Soluble Angiotensin-Converting Enzyme, 10.1089/hyb.2005.24.14
  39. Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P, Soubrier F, An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels., 10.1172/jci114844
  40. Churbanov Alexander, Vořechovský Igor, Hicks Chindo, A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements, 10.1186/1471-2105-11-22
  41. P Divina, 17, 759 (2009)
  42. Danilov Sergei, Savoie Fran??oise, Lenoir Bertrand, Jeunemaitre Xavier, Azizi Michel, Tarnow Lise, Alhenc-Gelas Fran??ois, Development of enzyme-linked immunoassays for human angiotensin I converting enzyme suitable for large-scale studies : , 10.1097/00004872-199606000-00007
  43. T Okabe, 55, 55 (1985)
  44. M Luisetti, 3, 441 (1990)
  45. Balyasnikova I. V., Metzger R., Franke F. E., Conrad N., Towbin H., Schwartz D. E., Sturrock E. D., Danilov S. M., Epitope mapping of mAbs to denatured human testicular ACE (CD143), 10.1111/j.1399-0039.2008.01112.x
  46. M Eyries, 276, 5525 (2001)
  47. Linnebank M., Kesper K., Jeub M., Urbach H., Wullner U., Klockgether T., Schmidt S., Hereditary elevation of angiotensin converting enzyme suggesting neurosarcoidosis, 10.1212/01.wnl.0000098990.12845.da
  48. A Semmler, 44, 1088 (2006)
  49. Ehlers M. R., Chen Y. N., Riordan J. F., Spontaneous solubilization of membrane-bound human testis angiotensin-converting enzyme expressed in Chinese hamster ovary cells., 10.1073/pnas.88.3.1009
  50. Houdayer Claude, Dehainault Catherine, Mattler Christophe, Michaux Dorothée, Caux-Moncoutier Virginie, Pagès-Berhouet Sabine, d'Enghien Catherine Dubois, Laugé Anthony, Castera Laurent, Gauthier-Villars Marion, Stoppa-Lyonnet Dominique, Evaluation of in silico splice tools for decision-making in molecular diagnosis, 10.1002/humu.20765
  51. A Kramer, 65, 367 (1996)
  52. Y von Kodolitsch, 100, 693 (1999)
  53. CR Esther, 99, 2375 (1997)
  54. C Kramers, Ned Tijdschr Geneeskd, 147, 473 (2003)