A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome

FEBS Letters

Volumn 423, Issue 1, 1998, Pages 5-9

  Makita, Naomasa ^a   Shirai, Nobumasa ^a   Nagashima, Masato ^b   Matsuoka, Rumiko ^c   Yamada, Yoichi ^b   Tohse, Noritsugu ^b   Kitabatake, Akira ^a  

^a HOKKAIDO UNIVERSITY   (Japan)

^b SAPPORO MEDICAL UNIVERSITY   (Japan)

^c Department of Pediatric Cardiology   (Japan)

Author keywords

De novo mutation; Inactivation; Long QT syndrome; Sodium channel; Voltage sensor

Indexed keywords

SODIUM CHANNEL;

ARTICLE; CASE REPORT; CHROMOSOME 3; ELECTRIC POTENTIAL; FEMALE; HUMAN; HUMAN CELL; LONG QT SYNDROME; MISSENSE MUTATION; OOCYTE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SENSOR;

ANIMALS; ARGININE; ELECTRIC CONDUCTIVITY; FEMALE; GLUTAMINE; HUMANS; INFANT; LONG QT SYNDROME; MUTAGENESIS, SITE-DIRECTED; MYOCARDIUM; PATCH-CLAMP TECHNIQUES; SODIUM; SODIUM CHANNELS; XENOPUS;

EID: 0032512627     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0014-5793(98)00033-7     Document Type: Article

References (31)

1. Curran M.E., Splawski I., Timothy K.W., Vincent G.M., Green E.D., Keating M.T. Cell. 80:1995;795-803.
2. Wang Q., Shen J., Splawski I., Atkinson D., Li Z., Robinson J.L., Moss A.J., Towbin J.A., Keating M.T. Cell. 80:1995;805-811.
3. Schott J.J., Charpentier F., Peltier S., Foley P., Drouin E., Bouhour J.B., Donnelly P., Vergnaud G., Bachner L., Moisan J.P., Le Marec H., Pascal O. Am. J. Hum. Genet. 57:1995;1114-1122.
4. Wang Q., Curran M.E., Splawski I., Burn T.C., Millholland J.M., VanRaay T.J., Shen J., Timothy K.W., Vincent G.M., de Jager T., Schwartz P.J., Toubin J.A., Moss A.J., Atkinson D.L., Landes G.M., Connors T.D., Keating M.T. Nature Genet. 12:1996;17-23.
5. Splawski I., Tristani-Firouzi M., Lehmann M.H., Sanguinetti M.C., Keating M.T. Nature Genet. 17:1997;338-340.
6. George A.L. Jr., Varkony T.A., Drabkin H.A., Han J., Knops J.F., Finley W.H., Brown G.B., Ward D.C., Haas M. Cytogenet. Cell Genet. 68:1995;67-70.
7. Wang Q., Shen J., Li Z., Timothy K., Vincent G.M., Priori S.G., Schwartz P.J., Keating M.T. Hum. Mol. Genet. 4:1995;1603-1607.
8. Bennett P.B., Yazawa K., Makita N., George A.L. Jr. Nature. 376:1995;683-685.
9. Wang D.W., Yazawa K., George A.L. Jr., Bennett P.B. Proc. Natl. Acad. Sci. USA. 93:1996;13200-13205.
10. Wang D.W., Yazawa K., Makita N., George A.L. Jr., Bennett P.B. J. Clin. Invest. 99:1997;1714-1720.
11. Yamagishi, H., Furutani, M., Kamisago, M., Moriwaka, Y., Kojima, Y., Hino, Y., Furutani, Y., Kimura, M., Imamura, S., Takao, A., Momma, K. and Matsuoka, R. (1997) Hum. Mutat. (Mutation in Brief #140 Online (http://journals.wiley.com/1059-7794/humuann.htm).
12. Higuchi, R. (1990) in: PCR protocols (Innis, M.A., Gelfand, D.H. and Sninsky, J.J., Eds.), pp. 177-183, Academic Press, San Diego, CA.
13. Krieg P.A., Melton D.A. Methods Enzymol. 155:1987;397-415.
14. Makita N., Bennett P.B. Jr., George A.L. Jr. Circ. Res. 78:1996;244-252.
15. Makita N., Bennett P.B., George A.L. J. Neurosci. 16:1996;7117-7127.
16. Schreibmayer W., Lester H.A., Dascal N. Pflügers Arch. 426:1994;453-458.
17. Bennett P.B., Valenzuela C., Chen L.Q., Kallen R.G. Circ. Res. 77:1995;584-592.
18. Fozzard H.A., Hanck D.A. Physiol. Rev. 76:1996;887-926.
19. Vandenberg C.A., Horn R. J. Gen. Physiol. 84:1984;535-564.
20. Dumaine R., Wang Q., Keating M.T., Hartmann H.A., Schwartz P.J., Brown A.M., Kirsch G.E. Circ. Res. 78:1996;916-924.
21. Aldrich R.W., Corey D.P., Stevens C.F. Nature. 306:1983;436-441.
22. Ptácek L.J., George A.L. Jr., Barchi R.L., Griggs R.C., Riggs J.E., Robertson M., Leppert M.F. Neuron. 8:1992;891-897.
23. Chahine M., George A.L. Jr., Zhou M., Ji S., Sun W., Barchi R.L., Horn R. Neuron. 12:1994;281-294.
24. Yang N., Ji S., Zhou M., Ptácek L.J., Barchi R.L., Horn R., George A.L. Jr. Proc. Natl. Acad. Sci. USA. 91:1994;12785-12789.
25. Catterall W.A. Annu. Rev. Biochem. 64:1995;493-531.
26. Stühmer W., Conti F., Suzuki H., Wang X.D., Noda M., Yahagi N., Kubo H., Numa S. Nature. 339:1989;597-603.
27. Yang N., George A.L. Jr., Horn R. Neuron. 16:1996;113-122.
28. Vassilev P., Scheuer T., Catterall W.A. Proc. Natl. Acad. Sci. USA. 86:1989;8147-8151.
29. West J.W., Patton D.E., Scheuer T., Wang Y., Goldin A.L., Catterall W.A. Proc. Natl. Acad. Sci. USA. 89:1992;10910-10914.
30. Patton D.E., West J.W., Catterall W.A., Goldin A.L. Proc. Natl. Acad. Sci. USA. 89:1992;10905-10909.
31. Valenzuela C., Bennett P.B. Jr. Biophys. J. 67:1994;161-171.