메뉴 건너뛰기




Volumn 122, Issue 6, 1999, Pages 1085-1092

Mutant channels contribute < 50% to Na+ current in paramyotonia congenita muscle

Author keywords

Channelopathies; Human skeletal muscle; Inactivation; Na+ channel; Patch clamp

Indexed keywords

MUTANT PROTEIN; SODIUM CHANNEL; VOLTAGE GATED CHANNEL FORMING PROTEIN;

EID: 0032717312     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/122.6.1085     Document Type: Article
Times cited : (22)

References (22)
  • 2
    • 0029026638 scopus 로고
    • Structure and function of voltage-gated ion channels
    • Catterall WA. Structure and function of voltage-gated ion channels. [Review]. Annu Rev Biochem 1995; 64: 493-531.
    • (1995) Annu Rev Biochem , vol.64 , pp. 493-531
    • Catterall, W.A.1
  • 4
    • 0030453610 scopus 로고    scopus 로고
    • A unique role for the S4 segment of domain 4 in the inactivation of sodium channels
    • Chen LQ, Santarelli V, Horn R, Kallen RG. A unique role for the S4 segment of domain 4 in the inactivation of sodium channels. J Gen Physiol 1996; 108: 549-56.
    • (1996) J Gen Physiol , vol.108 , pp. 549-556
    • Chen, L.Q.1    Santarelli, V.2    Horn, R.3    Kallen, R.G.4
  • 5
    • 0026590630 scopus 로고
    • Giga-seal formation alters properties of sodium channels of human myoballs
    • Fahlke C, Rüdel R. Giga-seal formation alters properties of sodium channels of human myoballs. Pflugers Arch 1992; 420: 248-54.
    • (1992) Pflugers Arch , vol.420 , pp. 248-254
    • Fahlke, C.1    Rüdel, R.2
  • 6
    • 0032007991 scopus 로고    scopus 로고
    • A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita
    • Lond
    • Featherstone DE, Fujimoto E, Ruben PC. A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita. J Physiol (Lond) 1998; 506: 627-38.
    • (1998) J Physiol , vol.506 , pp. 627-638
    • Featherstone, D.E.1    Fujimoto, E.2    Ruben, P.C.3
  • 8
    • 0019389518 scopus 로고
    • Clinical study of paramyotonia congenita with and without myotonia in a warm environment
    • Haass A, Ricker K, Rüel R, Lehmann-Horn F, Böhlen R, Dengler R, et al. Clinical study of paramyotonia congenita with and without myotonia in a warm environment. Muscle Nerve 1981; 4: 388-95.
    • (1981) Muscle Nerve , vol.4 , pp. 388-395
    • Haass, A.1    Ricker, K.2    Rüel, R.3    Lehmann-Horn, F.4    Böhlen, R.5    Dengler, R.6
  • 9
    • 0029926886 scopus 로고    scopus 로고
    • Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker
    • Hayward LJ, Brown RH Jr, Cannon SC. Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker. J Gen Physiol 1996; 107: 559-76.
    • (1996) J Gen Physiol , vol.107 , pp. 559-576
    • Hayward, L.J.1    Brown R.H., Jr.2    Cannon, S.C.3
  • 10
    • 0345041378 scopus 로고    scopus 로고
    • Explorations of voltage-dependent conformational changes using cysteine scanning
    • Ion channels. New York: Academic Press. In press
    • Horn R. Explorations of voltage-dependent conformational changes using cysteine scanning. In: Methods in enzymology. Vol. ? Ion channels. New York: Academic Press. In press 1999.
    • (1999) Methods in Enzymology
    • Horn, R.1
  • 11
    • 0023179138 scopus 로고
    • Membrane defects in paramyotonia congenita (Eulenburg)
    • Lehmann-Horn F, Rüdel R, Ricker R. Membrane defects in paramyotonia congenita (Eulenburg). Muscle Nerve 1987; 10: 633-41.
    • (1987) Muscle Nerve , vol.10 , pp. 633-641
    • Lehmann-Horn, F.1    Rüdel, R.2    Ricker, R.3
  • 12
    • 0029686477 scopus 로고    scopus 로고
    • Molecular pathophysiology of voltage-gated ion channels
    • Lehmann-Horn F, Rüdel R. Molecular pathophysiology of voltage-gated ion channels. [Review]. Rev Physiol Biochem Pharmacol 1996; 128: 195-268.
    • (1996) Rev Physiol Biochem Pharmacol , vol.128 , pp. 195-268
    • Lehmann-Horn, F.1    Rüdel, R.2
  • 15
    • 0029131274 scopus 로고
    • Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel
    • Lond
    • Mitrovic N, George AL Jr, Lerche H, Wagner S, Fahlke C, Lehmann-Horn F. Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. J Physiol (Lond) 1995; 487: 107-14.
    • (1995) J Physiol , vol.487 , pp. 107-114
    • Mitrovic, N.1    George A.L., Jr.2    Lerche, H.3    Wagner, S.4    Fahlke, C.5    Lehmann-Horn, F.6
  • 16
    • 0031881488 scopus 로고    scopus 로고
    • Independent versus coupled inactivation in sodium channels. Role of the domain 2 S4 segment
    • Mitrovic N, George AL Jr, Horn R. Independent versus coupled inactivation in sodium channels. Role of the domain 2 S4 segment. J Gen Physiol 1998; 111: 451-62.
    • (1998) J Gen Physiol , vol.111 , pp. 451-462
    • Mitrovic, N.1    George A.L., Jr.2    Horn, R.3
  • 17
    • 0024368695 scopus 로고
    • Structural parts involved in activation and inactivation of the sodium channel
    • Stühmer W, Conti F, Suzuki H, Wang XD, Noda M, Yahagi N, et al. Structural parts involved in activation and inactivation of the sodium channel. Nature 1989; 339: 597-603.
    • (1989) Nature , vol.339 , pp. 597-603
    • Stühmer, W.1    Conti, F.2    Suzuki, H.3    Wang, X.D.4    Noda, M.5    Yahagi, N.6
  • 18
    • 0028589331 scopus 로고
    • Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro
    • Yang N, Ji S, Zhou M, Ptacek LJ, Barchi RL, Horn R, et al. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc Natl Acad Sci USA 1994; 91: 12785-9.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 12785-12789
    • Yang, N.1    Ji, S.2    Zhou, M.3    Ptacek, L.J.4    Barchi, R.L.5    Horn, R.6
  • 20
    • 0030697470 scopus 로고    scopus 로고
    • A novel sodium channel mutation causing a hyperkalaemic paralytic and paramyotonic syndrome with variable clinical expressivity
    • Wagner S, Lerche H, Mitrovic N, Heine R, George AL, Lehmann-Horn F. A novel sodium channel mutation causing a hyperkalaemic paralytic and paramyotonic syndrome with variable clinical expressivity. Neurology 1997; 49: 1018-25.
    • (1997) Neurology , vol.49 , pp. 1018-1025
    • Wagner, S.1    Lerche, H.2    Mitrovic, N.3    Heine, R.4    George, A.L.5    Lehmann-Horn, F.6
  • 21
    • 0029064221 scopus 로고
    • In vivo sodium channel structure/function studies: Consecutive Arg 1448 changes to Cys, His, and Pro at the extracellular surface of IVS4
    • Wang J, Dubowitz V, Lehmann-Horn F, Ricker K, Ptacek L, Hoffman EP. In vivo sodium channel structure/function studies: consecutive Arg 1448 changes to Cys, His, and Pro at the extracellular surface of IVS4. [Review]. Soc Gen Physiol Ser 1995; 50: 77-88.
    • (1995) Soc Gen Physiol Ser , vol.50 , pp. 77-88
    • Wang, J.1    Dubowitz, V.2    Lehmann-Horn, F.3    Ricker, K.4    Ptacek, L.5    Hoffman, E.P.6
  • 22
    • 0028106435 scopus 로고
    • Pathophysiology of sodium channelopathies: Correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis
    • Zhou J, Spier SJ, Beech J, Hoffman EP. Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis. Hum Mol Genet 1994; 3: 1599-603.
    • (1994) Hum Mol Genet , vol.3 , pp. 1599-1603
    • Zhou, J.1    Spier, S.J.2    Beech, J.3    Hoffman, E.P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.