메뉴 건너뛰기




Volumn 35, Issue 4, 2003, Pages 409-415

Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome

Author keywords

Andersen's syndrome; Confocal laser scanning microscopy; Fluorescence resonance energy transfer; KCNJ2; Long QT; Mutation; Patch clamp; Potassium channel; Trafficking; Ventricular tachycardia

Indexed keywords

POTASSIUM CHANNEL; YELLOW FLUORESCENT PROTEIN;

EID: 0037384899     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-2828(03)00046-4     Document Type: Article
Times cited : (53)

References (29)
  • 1
    • 0015124692 scopus 로고
    • Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?
    • Andersen E.D., Krasilnikoff P.A., Overvad H. Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? Acta Paediatr Scand. 60:1971;559-564.
    • (1971) Acta Paediatr Scand , vol.60 , pp. 559-564
    • Andersen, E.D.1    Krasilnikoff, P.A.2    Overvad, H.3
  • 2
    • 0345620973 scopus 로고    scopus 로고
    • Andersen's syndrome autosomal dominant in three generations
    • Canun S., Perez N., Beirana L.G. Andersen's syndrome autosomal dominant in three generations. Am J Med Genet. 85:1999;147-156.
    • (1999) Am J Med Genet , vol.85 , pp. 147-156
    • Canun, S.1    Perez, N.2    Beirana, L.G.3
  • 3
    • 0001016223 scopus 로고
    • Periodic paralysis with cardiac arrhythmia
    • Klein R., Ganelin R., Marks J.F. Periodic paralysis with cardiac arrhythmia. J Pediatr. 62:1963;371-385.
    • (1963) J Pediatr , vol.62 , pp. 371-385
    • Klein, R.1    Ganelin, R.2    Marks, J.F.3
  • 5
    • 0016937690 scopus 로고
    • Bidirectional ventricular tachycardia in familial hypokalaemic periodic paralysis
    • Stubbs W.A. Bidirectional ventricular tachycardia in familial hypokalaemic periodic paralysis. Proc Roy Soc M. 69:1976;223-224.
    • (1976) Proc Roy Soc M , vol.69 , pp. 223-224
    • Stubbs, W.A.1
  • 6
    • 0028298042 scopus 로고
    • Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
    • Tawil R., Ptacek L.J., Pavlakis S.G., DeVivo D.C., Penn A.S., Ozdemir C., et al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol. 35:1994;326-330.
    • (1994) Ann Neurol , vol.35 , pp. 326-330
    • Tawil, R.1    Ptacek, L.J.2    Pavlakis, S.G.3    DeVivo, D.C.4    Penn, A.S.5    Ozdemir, C.6
  • 7
    • 0035907032 scopus 로고    scopus 로고
    • Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
    • Plaster N.M., Tawil R., Tristani-Firouzi M., Canun S., Bendahhou S., Tsunoda A., et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 105:2001;511-519.
    • (2001) Cell , vol.105 , pp. 511-519
    • Plaster, N.M.1    Tawil, R.2    Tristani-Firouzi, M.3    Canun, S.4    Bendahhou, S.5    Tsunoda, A.6
  • 8
    • 0030934798 scopus 로고    scopus 로고
    • Inward rectifier potassium channels
    • Nichols C.G., Lopatin A.N. Inward rectifier potassium channels. Annu Rev Physiol. 59:1997;171-191.
    • (1997) Annu Rev Physiol , vol.59 , pp. 171-191
    • Nichols, C.G.1    Lopatin, A.N.2
  • 9
    • 0030975901 scopus 로고    scopus 로고
    • Inwardly rectifying potassium channels: Their molecular heterogeneity and function
    • Isomoto S., Kondo C., Kurachi Y. Inwardly rectifying potassium channels: their molecular heterogeneity and function. Jpn J Physiol. 47:1997;11-39.
    • (1997) Jpn J Physiol , vol.47 , pp. 11-39
    • Isomoto, S.1    Kondo, C.2    Kurachi, Y.3
  • 10
    • 0027403280 scopus 로고
    • Primary structure and functional expression of a mouse inward rectifier potassium channel
    • Kubo Y., Baldwin T.J., Jan Y.N., Jan L.Y. Primary structure and functional expression of a mouse inward rectifier potassium channel. Nature. 362:1993;127-133.
    • (1993) Nature , vol.362 , pp. 127-133
    • Kubo, Y.1    Baldwin, T.J.2    Jan, Y.N.3    Jan, L.Y.4
  • 11
    • 0028598566 scopus 로고
    • Molecular cloning and expression of a human heart inward rectifier potassium channel
    • Raab-Graham K.F., Radeke C.M., Vandenberg C.A. Molecular cloning and expression of a human heart inward rectifier potassium channel. Neuroreport. 5:1994;2501-2505.
    • (1994) Neuroreport , vol.5 , pp. 2501-2505
    • Raab-Graham, K.F.1    Radeke, C.M.2    Vandenberg, C.A.3
  • 12
    • 0023239517 scopus 로고
    • Functional inactivation of genes by dominant negative mutations
    • Herskowitz I. Functional inactivation of genes by dominant negative mutations. Nature. 329:1987;219-222.
    • (1987) Nature , vol.329 , pp. 219-222
    • Herskowitz, I.1
  • 13
    • 0037024233 scopus 로고    scopus 로고
    • Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia
    • Ai T., Fujiwara Y., Tsuji K., Otani H., Nakano S., Kubo Y., et al. Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. Circulation. 105:2002;2592-2594.
    • (2002) Circulation , vol.105 , pp. 2592-2594
    • Ai, T.1    Fujiwara, Y.2    Tsuji, K.3    Otani, H.4    Nakano, S.5    Kubo, Y.6
  • 14
    • 0030606298 scopus 로고    scopus 로고
    • Regions responsible for the assembly of inwardly rectifying potassium channels
    • Tinker A., Jan Y.N., Jan L.Y. Regions responsible for the assembly of inwardly rectifying potassium channels. Cell. 87:1996;857-868.
    • (1996) Cell , vol.87 , pp. 857-868
    • Tinker, A.1    Jan, Y.N.2    Jan, L.Y.3
  • 15
    • 0026501309 scopus 로고
    • Incidence and mechanism of interruption of reentrant ventricular tachycardia with rapid ventricular pacing
    • Aizawa Y., Niwano S., Chinushi M., Tamura M., Kusano Y., Miyajima T., et al. Incidence and mechanism of interruption of reentrant ventricular tachycardia with rapid ventricular pacing. Circulation. 85:1992;589-595.
    • (1992) Circulation , vol.85 , pp. 589-595
    • Aizawa, Y.1    Niwano, S.2    Chinushi, M.3    Tamura, M.4    Kusano, Y.5    Miyajima, T.6
  • 16
    • 0030048198 scopus 로고    scopus 로고
    • Labeling neural cells using adenoviral gene transfer of membrane-targeted GFP
    • Moriyoshi K., Richards L.J., Akazawa C., O'Leary D.D., Nakanishi S. Labeling neural cells using adenoviral gene transfer of membrane-targeted GFP. Neuron. 16:1996;255-260.
    • (1996) Neuron , vol.16 , pp. 255-260
    • Moriyoshi, K.1    Richards, L.J.2    Akazawa, C.3    O'Leary, D.D.4    Nakanishi, S.5
  • 17
    • 0019441262 scopus 로고
    • Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches
    • Hamill O.P., Marty A., Neher E., Sakmann B., Sigworth F.J. Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches. Pflugers Arch. 391:1981;85-100.
    • (1981) Pflugers Arch , vol.391 , pp. 85-100
    • Hamill, O.P.1    Marty, A.2    Neher, E.3    Sakmann, B.4    Sigworth, F.J.5
  • 18
    • 0032414792 scopus 로고    scopus 로고
    • + currents via a tyrosine kinase-independent pathway
    • + currents via a tyrosine kinase-independent pathway. J Mol Cell Cardiol. 30:1998;2577-2590.
    • (1998) J Mol Cell Cardiol , vol.30 , pp. 2577-2590
    • Washizuka, T.1    Horie, M.2
  • 19
    • 0032488663 scopus 로고    scopus 로고
    • ATP channel subunits to the plasma membrane
    • ATP channel subunits to the plasma membrane. J Biol Chem. 273:1998;3369-3374.
    • (1998) J Biol Chem , vol.273 , pp. 3369-3374
    • Makhina, E.N.1    Nichols, C.G.2
  • 20
    • 0034581516 scopus 로고    scopus 로고
    • Monitoring protein conformations and interactions by fluorescence resonance energy transfer between mutants of green fluorescent protein
    • Miyawaki A., Tsien R.Y. Monitoring protein conformations and interactions by fluorescence resonance energy transfer between mutants of green fluorescent protein. Meth Enzymol. 327:2000;472-500.
    • (2000) Meth Enzymol , vol.327 , pp. 472-500
    • Miyawaki, A.1    Tsien, R.Y.2
  • 21
    • 0033083490 scopus 로고    scopus 로고
    • Using GFP in FRET-based applications
    • Pollok B.A., Heim R. Using GFP in FRET-based applications. Trend Cell Biol. 9:1999;57-60.
    • (1999) Trend Cell Biol , vol.9 , pp. 57-60
    • Pollok, B.A.1    Heim, R.2
  • 22
    • 0036479231 scopus 로고    scopus 로고
    • Fluorescence resonance energy transfer studies on the interaction between the lactate transporter MCT1 and CD147 provide information on the topology and stoichiometry of the complex in situ
    • Wilson M.C., Meredith D., Halestrap A.P. Fluorescence resonance energy transfer studies on the interaction between the lactate transporter MCT1 and CD147 provide information on the topology and stoichiometry of the complex in situ. J Biol Chem. 277:2002;3666-3672.
    • (2002) J Biol Chem , vol.277 , pp. 3666-3672
    • Wilson, M.C.1    Meredith, D.2    Halestrap, A.P.3
  • 23
    • 0034977901 scopus 로고    scopus 로고
    • Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus
    • Yamashita F., Horie M., Kubota T., Yoshida H., Yumoto Y., Kobori A., et al. Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus. J Mol Cell Cardiol. 33:2001;197-207.
    • (2001) J Mol Cell Cardiol , vol.33 , pp. 197-207
    • Yamashita, F.1    Horie, M.2    Kubota, T.3    Yoshida, H.4    Yumoto, Y.5    Kobori, A.6
  • 24
    • 0034502477 scopus 로고    scopus 로고
    • Retention in the endoplasmic reticulum as a mechanism of dominant-negative current suppression in human long QT syndrome
    • Ficker E., Dennis A.T., Obejero-Paz C.A., Castaldo P., Taglialatela M., Brown A.M., et al. Retention in the endoplasmic reticulum as a mechanism of dominant-negative current suppression in human long QT syndrome. J Mol Cell Cardiol. 32:2000;2327-2337.
    • (2000) J Mol Cell Cardiol , vol.32 , pp. 2327-2337
    • Ficker, E.1    Dennis, A.T.2    Obejero-Paz, C.A.3    Castaldo, P.4    Taglialatela, M.5    Brown, A.M.6
  • 25
    • 0033615646 scopus 로고    scopus 로고
    • Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome. Pharmacological and temperature effects
    • Zhou Z., Gong Q., January C.T. Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome. Pharmacological and temperature effects. J Biol Chem. 274:1999;31123-31126.
    • (1999) J Biol Chem , vol.274 , pp. 31123-31126
    • Zhou, Z.1    Gong, Q.2    January, C.T.3
  • 26
    • 0032903775 scopus 로고    scopus 로고
    • Novel mechanism associated with an inherited cardiac arrhythmia: Defective protein trafficking by the mutant HERG (G601S) potassium channel
    • Furutani M., Trudeau M.C., Hagiwara N., Seki A., Gong Q., Zhou Z., et al. Novel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel. Circulation. 99:1999;2290-2294.
    • (1999) Circulation , vol.99 , pp. 2290-2294
    • Furutani, M.1    Trudeau, M.C.2    Hagiwara, N.3    Seki, A.4    Gong, Q.5    Zhou, Z.6
  • 27
    • 0035963331 scopus 로고    scopus 로고
    • Spatio-temporal images of growth-factor-induced activation of Ras and Rap1
    • Mochizuki N., Yamashita S., Kurokawa K., Ohba Y., Nagai T., Miyawaki A., et al. Spatio-temporal images of growth-factor-induced activation of Ras and Rap1. Nature. 411:2001;1065-1068.
    • (2001) Nature , vol.411 , pp. 1065-1068
    • Mochizuki, N.1    Yamashita, S.2    Kurokawa, K.3    Ohba, Y.4    Nagai, T.5    Miyawaki, A.6
  • 28
    • 0035830482 scopus 로고    scopus 로고
    • Multiple PIP2 binding sites in Kir2.1 inwardly rectifying potassium channels
    • Soom M., Schonherr R., Kubo Y., Kirsch C., Klinger R., Heinemann S.H. Multiple PIP2 binding sites in Kir2.1 inwardly rectifying potassium channels. FEBS Lett. 490:2001;49-53.
    • (2001) FEBS Lett , vol.490 , pp. 49-53
    • Soom, M.1    Schonherr, R.2    Kubo, Y.3    Kirsch, C.4    Klinger, R.5    Heinemann, S.H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.