A mutation in telethonin alters Nav1.5 function

Journal of Biological Chemistry

Volumn 283, Issue 24, 2008, Pages 16537-16544

  Mazzone, Amelia ^a   Strege, Peter R ^a   Tester, David J ^a   Bernard, Cheryl E ^a   Faulkner, Georgine ^b   De Giorgio, Roberto ^c   Makielski, Jonathan C ^d   Stanghellini, Vincenzo ^c   Gibbons, Simon J ^a   Ackerman, Michael J ^a   Farrugia, Gianrico ^a  

^a MAYO CLINIC   (United States)

^b INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL CULTURE; FUNCTIONS; GENE ENCODING; IONS; PLANTS (BOTANY); PROBABILITY DENSITY FUNCTION; PROTEINS; TOXIC MATERIALS;

293 CELLS; ACTIVATION KINETICS; CELLULAR DEPOLARIZATIONS; EXCITABLE CELLS; EXTRACELLULAR SPACES; GASTROINTESTINAL SYMPTOMS; GASTROINTESTINAL TRACTS; ION CHANNELS; QT SYNDROMES; SMOOTH MUSCLES; SODIUM CHANNELS; STEADY STATES;

ION EXCHANGE;

MUSCLE PROTEIN; PROTEIN NAV1.5; PROTEIN SCN5A; PROTEIN TELETHONIN; SODIUM CHANNEL; UNCLASSIFIED DRUG; ION CHANNEL; SCN5A PROTEIN, HUMAN; TCAP PROTEIN, HUMAN;

ADULT; AMINO ACID SEQUENCE; ARTICLE; BRUGADA SYNDROME; CASE REPORT; CONTROLLED STUDY; GASTROINTESTINAL SYMPTOM; HEART FUNCTION; HEART FUNCTION TEST; HUMAN; HUMAN CELL; INTESTINE PSEUDOOBSTRUCTION; MALE; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; QT PROLONGATION; SMOOTH MUSCLE; BIOLOGICAL MODEL; CHEMISTRY; GENE VECTOR; GENETICS; KINETICS; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PHYSIOLOGY;

ADULT; AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; GENETIC VECTORS; HUMANS; ION CHANNELS; KINETICS; MALE; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCLE, SMOOTH; MUTATION; PATCH-CLAMP TECHNIQUES; SODIUM CHANNELS;

EID: 47749102965     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M801744200     Document Type: Article

References (29)

1. Abriel, H., and Kass, R. S. (2005) Trends Cardiovasc. Med. 15, 35-40
2. Gellens, M. E., George, A. L., Jr., Chen, L. Q., Chahine, M., Horn, R., Barchi, R. L., and Kallen, R. G. (1992) Proc. Natl. Acad. Sci. U. S. A. 89, 554-558
3. Holm, A. N., Rich, A., Miller, S. M., Strege, P., Ou, Y., Gibbons, S., Sarr, M. G., Szurszewski, J. H., Rae, J. L., and Farrugia, G. (2002) Gastroenterology 122, 178-187
4. Hartmann, H. A., Colom, L. V., Sutherland, M. L., and Noebels, J. L. (1999) Nat. Neurosci. 2, 593-595
5. Ou, Y., Gibbons, S. J., Miller, S. M., Strege, P. R., Rich, A., Distad, M. A., Ackerman, M. J., Rae, J. L., Szurszewski, J. H., and Farrugia, G. (2002) Neurogastroenterol. Motil. 14, 477-486
6. Strege, P. R., Holm, A. N., Rich, A., Miller, S. M., Ou, Y., Sarr, M. G., and Farrugia, G. (2003) Am. J. Physiol. 284, C60-C66
7. Locke, G. R., III, Ackerman, M. J., Zinsmeister, A. R., Thapa, P., and Farrugia, G. (2006) Am. J. Gastroenterol. 101, 1299-1304
8. Milla, P. J. (1994) in Gastrointestinal Transit: Pathophysiology and Pharmacology (Kamm, M. A., and Lennard-Jones, J. E., eds) Wrightson Biomedical Publishing, Petersfiend, UK
9. Schuffler, M. D. (1981) Med. Clin. N. Am. 65, 1331-1358
10. Furukawa, T., Ono, Y., Tsuchiya, H., Katayama, Y., Bang, M. L., Labeit, D., Labeit, S., Inagaki, N., and Gregorio, C. C. (2001) J. Mol. Biol. 313, 775-784
11. Kojic, S., Medeot, E., Guccione, E., Krmac, H., Zara, I., Martinelli, V., Valle, G., and Faulkner, G. (2004) J. Mol. Biol. 339, 313-325
12. Miller, M. K., Bang, M. L., Witt, C. C., Labeit, D., Trombitas, C., Watanabe, K., Granzier, H., McElhinny, A. S., Gregorio, C. C., and Labeit, S. (2003) J. Mol. Biol. 333, 951-964
13. Knoll, R., Hoshijima, M., Hoffman, H. M., Person, V., Lorenzen-Schmidt, I., Bang, M. L., Hayashi, T., Shiga, N., Yasukawa, H., Schaper, W., McKenna, W., Yokoyama, M., Schork, N. J., Omens, J. H., McCulloch, A. D., Kimura, A., Gregorio, C. C., Poller, W., Schaper, J., Schultheiss, H. P., and Chien, K. R. (2002) Cell 111, 943-955
14. Valle, G., Faulkner, G., De Antoni, A., Pacchioni, B., Pallavicini, A., Pandolfo, D., Tiso, N., Toppo, S., Trevisan, S., and Lanfranchi, G. (1997) FEBS Lett. 415, 163-168
15. Mayans, O., van der Ven, P. F., Wilm, M., Mues, A., Young, P., Furst, D. O., Wilmanns, M., and Gautel, M. (1998) Nature 395, 863-869
16. Haworth, R. S., Cuello, F., Herron, T. J., Franzen, G., Kentish, J. C., Gautel, M., and Avkiran, M. (2004) Circ. Res. 95, 1091-1099
17. Nicholas, G., Thomas, M., Langley, B., Somers, W., Patel, K., Kemp, C. F., Sharma, M., and Kambadur, R. (2002) J. Cell. Physiol. 193, 120-131
18. Witt, S. H., Granzier, H., Witt, C. C., and Labeit, S. (2005) J. Mol. Biol. 350, 713-722
19. Faulkner, G., Pallavicini, A., Comelli, A., Salamon, M., Bortoletto, G., Ievolella, C., Trevisan, S., Kojic, S., Dalla Vecchia, F., Laveder, P., Valle, G., and Lanfranchi, G. (2000) J. Biol. Chem. 275, 41234-41242
20. Mues, A., van der Ven, P. F., Young, P., Furst, D. O., and Gautel, M. (1998) FEBS Lett. 428, 111-114
21. Ackerman, M. J., Tester, D. J., Jones, G. S., Will, M. L., Burrow, C. R., and Curran, M. E. (2003) Mayo Clin. Proc. 78, 1479-1487
22. Farrugia, G., Rae, J. L., Sarr, M. G., and Szurszewski, J. H. (1993) Am. J. Physiol. 265, G873-G879
23. Strege, P. R., Mazzone, A., Kraichely, R. E., Sha, L., Holm, A. N., Ou, Y., Lim, I., Gibbons, S. J., Sarr, M. G., and Farrugia, G. (2007) Neurogastroenterol. Motil. 19, 135-143
24. Ou, Y., Strege, P., Miller, S. M., Makielski, J., Ackerman, M., Gibbons, S. J., and Farrugia, G. (2003) J. Biol. Chem. 278, 1915-1923
25. Moreira, E. S., Wiltshire, T. J., Faulkner, G., Nilforoushan, A., Vainzof, M., Suzuki, O. T., Valle, G., Reeves, R., Zatz, M., Passos-Bueno, M. R., and Jenne, D. E. (2000) Nat. Genet. 24, 163-166
26. Strege, P. R., Ou, Y., Sha, L., Rich, A., Gibbons, S. J., Szurszewski, J. H., Sarr, M. G., and Farrugia, G. (2003) Am. J. Physiol. 285, G1111-G1121
27. Mohler, P. J., Rivolta, I., Napolitano, C., LeMaillet, G., Lambert, S., Priori, S. G., and Bennett, V. (2004) Proc. Natl. Acad. Sci. U. S. A. 101, 17533-17538
28. Gavillet, B., Rougier, J. S., Domenighetti, A. A., Behar, R., Boixel, C., Ruchat, P., Lehr, H. A., Pedrazzini, T., and Abriel, H. (2006) Circ. Res. 99, 407-414
29. Hoshijima, M. (2006) Am. J. Physiol. 290, H1313-H1325