A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy

Proceedings of the National Academy of Sciences of the United States of America

Volumn 103, Issue 5, 2006, Pages 1388-1393

  Haghighi, Kobra ^a   Kolokathis, Fotis ^b   Gramolini, Anthony O ^c   Waggoner, Jason R ^a   Pater, Luke ^a   Lynch, Roy A ^a   Fan, Guo Chang ^a   Tsiapras, Dimitris ^b   Parekh, Rohan R ^a   Dorn II, Gerald W ^a   MacLennan, David H ^c   Kremastinos, Dimitrios Th ^b   Kranias, Evangelia G ^a,d  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b ONASSIS CARDIAC SURGERY CENTER   (Greece)

^c UNIVERSITY OF TORONTO   (Canada)

^d BIOMEDICAL RESEARCH FOUNDATION   (Greece)

Author keywords

Calcium cycling; Dilated cardiomyopathy; Heart failure; Mutation; Phosphorylation

Indexed keywords

ADENOSINE TRIPHOSPHATASE (CALCIUM); ARGININE; CALCIUM BINDING PROTEIN; CYCLIC AMP DEPENDENT PROTEIN KINASE; PHOSPHOLAMBAN;

ADULT; ARTICLE; CARDIOMYOPATHY; CELL STRAIN HEK293; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DEATH; ENZYME REPRESSION; FAMILIAL DISEASE; GENE DELETION; GENE MUTATION; GENE OVEREXPRESSION; GENETIC SCREENING; HEART FAILURE; HEART LEFT VENTRICLE FAILURE; HEART MUSCLE CONTRACTILITY; HETEROZYGOSITY; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; LETHALITY; MOUSE; MUTANT; NONHUMAN; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SARCOPLASMIC RETICULUM; SCHOOL CHILD; TRANSGENIC MOUSE;

ADULT; ANIMALS; ARGININE; ARRHYTHMIA; CALCIUM; CALCIUM-BINDING PROTEINS; CARDIOMYOPATHIES; CELL LINE; CHILD; DNA MUTATIONAL ANALYSIS; ECHOCARDIOGRAPHY; FAMILY HEALTH; FEMALE; GENE DELETION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MICE; MICE, TRANSGENIC; MICROSCOPY, FLUORESCENCE; MIDDLE AGED; MODELS, STATISTICAL; MUTATION; PEDIGREE; SARCOPLASMIC RETICULUM; TIME FACTORS;

MUS MUSCULUS;

EID: 31944450889     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0510519103     Document Type: Article

References (28)

1. Ho, K. K., Andersen, K. M., Kannel, W. B., Grossman, W. & Levy, D. (1993) Circulation 88, 107-115.
2. Gwathmey, J. K., Copelas, L., MacKinnon, R., Schoen, F. J., Feldman, M. D., Grossman, W. & Morgan, J. P. (1987) Circ. Res. 61, 70-76.
3. Hasenfuss, G. (1998) Cardiovasc. Res. 37, 279-289.
4. Beuckelmann, D. J., Nabauer, M. & Erdmann, E. (1992) Circulation 85, 1046-1055.
5. Meyer, M., Schillinger, W., Pieske, B., Holubarsch, C., Heilmann, C., Posival, H., Kuwajima, G., Mikoshiba, K., Just, H., Hasenfuss, G., et al. (1995) Circulation 92, 778-784.
6. Haghighi, K., Schmidt, A. G., Hoit, B. D., Brittsan, A. G., Yatani, A., Lester, J. W., Zhai, J., Kimura, Y., Dorn, G. W., 2nd, MacLennan, D. H., et al. (2001) J. Biol. Chem. 276, 24145-24152.
7. Schmidt, A. G., Zhai, J., Carr, A. C., Gerst, M. J., Lorenz, J. N., Pollesello, P., Annila, A., Hoit, B. D., Kranias, E. G. (2002) Cardiovasc. Res. 56, 248-259.
8. Dash, R., Frank, K. F., Carr, A. N., Moravec, C. S. & Kranias, E. G. (2001) J. Mol. Cell Cardiol. 33, 1345-1353.
9. MacLennan, D. H. & Kranias, E. G. (2003) Nat. Rev. Mol. Cell Biol. 7, 566-577.
10. Haghighi, K., Kolokathis, F., Pater, L., Lynch, R. A., Asahi, M., Gramolini, A. O., Fan, G. C., Tsiapras, D., Hahn, H. S., Adamopoulos, S., et al. (2003) J. Clin. Invest. 111, 869-876.
11. Schmitt, J. P., Kamisago, M., Asahi, M., Li, O. H., Ahmad, F., Mende, U., Kranias, E. G., MacLennan, D. H., Seidman, J. G. & Seidman, C. E. (2003) Science 299, 1410-1413.
12. Minamisawa, S., Sato, Y., Tatsuguchi, Y., Fujino, T., Imamura, S., Uetsuka, Y, Nakazawa, M. & Matsuoka, R. (2003) Biochem. Biophys. Res. Commun. 304, 1-4.
13. McTiernan, C. F., Frye, C. S., Lemster, B. H., Kinder, E. A., Ogletree-Hughes, M. L., Moravec, C. S. & Feldman, A. M. (1999) J. Mol. Cell Cardiol. 31, 679-692.
14. Mayer, E. J., McKenna, E., Garsky, V. M., Burke, C. J., Mach, H., Middaugh, C. R., Sardana, M., Smith, J. S. & Johnson, R. G., Jr., (1996) J. Biol. Chem. 271, 1669-1677.
15. Zvaritch, E., Backx, P. H., Jirik, F., Kimura, Y., de Leon, S., Schmidt, A. G., Hoit, B. D., Lester, J. W., Kranias, E. G. & MacLennan, D. H. (2000) J. Biol. Chem. 275, 14985-14991.
16. Zhai, J., Schmidt, A. G., Hoit, B. D., Kimura, Y., MacLennan, D. H. & Kranias, E. G. (2000) J. Biol. Chem. 275, 10538-10544.
17. Del Monte, F., Williams, E., Lebeche, D., Schmidt, U., Rosenzweig, A., Gwathmey, J. K., Lewandowski, E. D. & Hajjar, R. J. (2001) Circulation 104, 1424-1429.
18. Del Monte, F., Harding, S. E., Dec, G. W., Gwathmey, J. K. & Hajjar, R. J. (2002) Circulation 105, 904-907.
19. Luo, W., Grupp, I. L., Harrer, J., Ponniah, S., Grupp, G., Duffy, J. J., Doetschman, T. & Kranias, E. G. (1994) Circ. Res. 75, 401-409.
20. Hoshijima, M., Ikeda, Y., Iwanaga, Y., Minamisawa, S., Date, M. O., Gu, Y., Iwatate, M., Li, M., Wang, L., Wilson, J. M., et al (2002) Nat. Med. 8, 864-871.
21. Wehrens, X. H. T., Lehnart, S. E., Reiken, S., van der Nagel, R., Morales, R., Sun, J., Cheng, Z., Deng, S.-X., de Windt, L. J., Landry, D. W. & Marks, A. R. (2005) Proc. Natl. Acad. Sci. USA 102, 9607-9612.
22. Viatchenko-Karpinski, S., Terentyev, D., Gyorke, I., Terentyeva, R., Volpe, P., Priori, S. G., Napolitano, C., Nori, A., Williams, S. C. & Gyorke, S. (2004) Circ. Res. 94, 471-477.
23. Priori, S. O. & Napolitano, C. (2005) J. Clin. Invest. 115, 2033-2038.
24. Sahn, D. J., DeMaria, A., Kisslo, J. & Weyman, A. (1987) Circulation 58, 1072-1083.
25. Schiller, N. B., Shah, P. M., Crawford, M., DeMaria, A., Devereux, R., Feigenbaum, H., Gutgesell, H., Reichek, N., Sahn, D., Schnittger, I., et al. (1989) J. Am. Soc. Echocardiogr. 2, 358-367.
26. Asahi, M., Kimura, Y., Kurzydlowski, K., Tada, M. & MacLennan, D. H. (1999) J. Biol. Chem. 274, 32855-32862.
27. Kimura, Y., Kurzydlowski, K., Tada, M. & MacLennan, D. H. (1997) J. Biol. Chem. 272, 15061-15064.
28. Brittsan, A. G., Carr, A. N., Schmidt, A. O. & Kranias, E. O. (2000) J. Biol. Chem. 275, 12129-12135.