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Volumn 104, Issue 10, 1999, Pages 1403-1410

Mutation causing congenital myasthenia reveals acetylcholine receptor β/δ subunit interaction essential for assembly

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; PROTEIN SUBUNIT;

EID: 0032722151     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI8179     Document Type: Article
Times cited : (68)

References (34)
  • 1
    • 0033070866 scopus 로고    scopus 로고
    • Ion channel assembly: Creating structures that function
    • Green, W.N. 1999. Ion channel assembly: creating structures that function. J. Gen. Physiol. 113:163-169.
    • (1999) J. Gen. Physiol. , vol.113 , pp. 163-169
    • Green, W.N.1
  • 2
    • 0026416051 scopus 로고
    • Extracellular domains mediating ε subunit interactions of muscle acetylcholine receptor
    • Yu, X.-M., and Hall, Z.W. 1991. Extracellular domains mediating ε subunit interactions of muscle acetylcholine receptor. Nature. 352:64-67.
    • (1991) Nature , vol.352 , pp. 64-67
    • Yu, X.-M.1    Hall, Z.W.2
  • 3
    • 0026595697 scopus 로고
    • The N-terminal domains of the acetylcholine receptor subunits contain recognition signals for the initial steps of receptor assembly
    • Verrall, S., and Hall, Z.W. 1992. The N-terminal domains of the acetylcholine receptor subunits contain recognition signals for the initial steps of receptor assembly. Cell. 68:23-31.
    • (1992) Cell , vol.68 , pp. 23-31
    • Verrall, S.1    Hall, Z.W.2
  • 4
    • 0030858667 scopus 로고    scopus 로고
    • The role of the cystine loop in acetylcholine receptor assembly
    • Green, W.N., and Wanamaker, C.P. 1997. The role of the cystine loop in acetylcholine receptor assembly. J. Biol. Chem. 272:20945-20953.
    • (1997) J. Biol. Chem. , vol.272 , pp. 20945-20953
    • Green, W.N.1    Wanamaker, C.P.2
  • 5
    • 0025871429 scopus 로고
    • Identification of two amino acid residues in the epsilon subunit that promote mammalian muscle acetylcholine receptor assembly in COS cells
    • Gu, Y., Camacho, P., Gardner, P., and Hall, Z.W. 1991. Identification of two amino acid residues in the epsilon subunit that promote mammalian muscle acetylcholine receptor assembly in COS cells. Neuron. 6:879-887.
    • (1991) Neuron , vol.6 , pp. 879-887
    • Gu, Y.1    Camacho, P.2    Gardner, P.3    Hall, Z.W.4
  • 6
    • 0028346433 scopus 로고
    • Glycosylation sites selectively interfere with α-toxin binding to the nicotinic acetylcholine receptor
    • Kreienkamp, H.-J., Sine, S.M., Maeda, R.K., and Taylor, P. 1994. Glycosylation sites selectively interfere with α-toxin binding to the nicotinic acetylcholine receptor. J. Biol. Chem. 269:8108-8114.
    • (1994) J. Biol. Chem. , vol.269 , pp. 8108-8114
    • Kreienkamp, H.-J.1    Sine, S.M.2    Maeda, R.K.3    Taylor, P.4
  • 7
    • 0028658408 scopus 로고
    • Role of two acetylcholine receptor subunit domains in homomer formation and intersubunit recognition, as revealed by α3 and α7 chimeras
    • Garcia-Guzman, M., Sala, F., Sala, S., Campos-Caro, A., and Criado, M. 1994. Role of two acetylcholine receptor subunit domains in homomer formation and intersubunit recognition, as revealed by α3 and α7 chimeras. Biochemistry. 33:15198-15203.
    • (1994) Biochemistry , vol.33 , pp. 15198-15203
    • Garcia-Guzman, M.1    Sala, F.2    Sala, S.3    Campos-Caro, A.4    Criado, M.5
  • 8
    • 0020031288 scopus 로고
    • Acetylcholinesterase of human erythrocytes and neuromuscular junctions: Homologies revealed by monoclonal antibodies
    • Fambrough, D.M., Engel, A.G., and Rosenberry, T.L. 1982. Acetylcholinesterase of human erythrocytes and neuromuscular junctions: homologies revealed by monoclonal antibodies. Proc. Natl. Acad. Sci. USA. 79:1078-1082.
    • (1982) Proc. Natl. Acad. Sci. USA , vol.79 , pp. 1078-1082
    • Fambrough, D.M.1    Engel, A.G.2    Rosenberry, T.L.3
  • 9
    • 0000780544 scopus 로고
    • The muscle biopsy
    • A.G. Engel and C. Franzini-Armstrong, editors. McGraw-Hill. New York, NY
    • Engel, A.G. 1994. The muscle biopsy. In Myology. 2nd edition. A.G. Engel and C. Franzini-Armstrong, editors. McGraw-Hill. New York, NY. 822-831.
    • (1994) Myology. 2nd Edition , pp. 822-831
    • Engel, A.G.1
  • 10
    • 0000287048 scopus 로고
    • Quantitative morphological studies of muscle
    • A.G. Engel and C. Franzini-Armstrong, editors. McGraw-Hill. New York, NY
    • Engel, A.G. 1994. Quantitative morphological studies of muscle. In Myology. 2nd edition. A.G. Engel and C. Franzini-Armstrong, editors. McGraw-Hill. New York, NY. 1018-1045.
    • (1994) Myology. 2nd Edition , pp. 1018-1045
    • Engel, A.G.1
  • 11
    • 0017749807 scopus 로고
    • Ultra-structural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model
    • Engel, A.G., Lindstrom, J.M., Lambert, E.H., and Lennon, V.A. 1977. Ultra-structural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model. Neurology. 27:307-315.
    • (1977) Neurology , vol.27 , pp. 307-315
    • Engel, A.G.1    Lindstrom, J.M.2    Lambert, E.H.3    Lennon, V.A.4
  • 12
    • 0027501444 scopus 로고
    • Congenital myasthenic syndromes. I. Deficiency and short open-time of the acetylcholine receptor
    • Engel, A.G., Nagel, A., Walls, T.J., Harper, C.M., and Waisburg, H.A. 1993. Congenital myasthenic syndromes. I. Deficiency and short open-time of the acetylcholine receptor. Muscle Nerve. 16:1284-1292.
    • (1993) Muscle Nerve , vol.16 , pp. 1284-1292
    • Engel, A.G.1    Nagel, A.2    Walls, T.J.3    Harper, C.M.4    Waisburg, H.A.5
  • 13
    • 0027376417 scopus 로고
    • Congenital myasthenic syndromes. II. A syndrome attributed to abnormal interaction of acetylcholine with its receptor
    • Uchitel, O., et al. 1993. Congenital myasthenic syndromes. II. A syndrome attributed to abnormal interaction of acetylcholine with its receptor. Muscle Nerve. 16:1293-1301.
    • (1993) Muscle Nerve , vol.16 , pp. 1293-1301
    • Uchitel, O.1
  • 14
    • 0030757151 scopus 로고    scopus 로고
    • Slow-channel syndrome caused by enhanced activation, desensitization, and agonist binding affinity due to mutation in the M2 domain of the acetylcholine receptor alpha subunit
    • Milone, M., et al. 1997. Slow-channel syndrome caused by enhanced activation, desensitization, and agonist binding affinity due to mutation in the M2 domain of the acetylcholine receptor alpha subunit. J. Neurosci. 17:5651-5665.
    • (1997) J. Neurosci. , vol.17 , pp. 5651-5665
    • Milone, M.1
  • 15
    • 0028821376 scopus 로고
    • Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the ε subunit
    • Ohno, K., et al. 1995. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the ε subunit. Proc. Natl. Acad. Sci. USA. 92:758-762.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 758-762
    • Ohno, K.1
  • 16
    • 15844429136 scopus 로고    scopus 로고
    • Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor ε subunit
    • Ohno, K., et al. 1996. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor ε subunit. Neuron. 17:157-170.
    • (1996) Neuron , vol.17 , pp. 157-170
    • Ohno, K.1
  • 17
    • 0031829201 scopus 로고    scopus 로고
    • Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor
    • Ohno, K., et al. 1998. Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor. Ann. Neurol. 44:234-241.
    • (1998) Ann. Neurol. , vol.44 , pp. 234-241
    • Ohno, K.1
  • 18
    • 0028600111 scopus 로고
    • Structural basis of different gating kinetics of fetal and adult acetylcholine receptors
    • Bouzat, C., Bren, N., and Sine, S.M. 1994. Structural basis of different gating kinetics of fetal and adult acetylcholine receptors. Neuron. 13:1395-1402.
    • (1994) Neuron , vol.13 , pp. 1395-1402
    • Bouzat, C.1    Bren, N.2    Sine, S.M.3
  • 19
    • 0023478292 scopus 로고
    • Data transformation for improved display and fitting of single-channel dwell time histograms
    • Sigworth, F.J., and Sine, S.M. 1987. Data transformation for improved display and fitting of single-channel dwell time histograms. Biophys. J. 52:1047-1054.
    • (1987) Biophys. J. , vol.52 , pp. 1047-1054
    • Sigworth, F.J.1    Sine, S.M.2
  • 20
    • 0028019282 scopus 로고
    • Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate
    • Milone, M., Hutchinson, D.O., and Engel, A.G. 1994. Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate. Muscle Nerve. 17:1364-1369.
    • (1994) Muscle Nerve , vol.17 , pp. 1364-1369
    • Milone, M.1    Hutchinson, D.O.2    Engel, A.G.3
  • 21
    • 0022454719 scopus 로고
    • Molecular distinction between fetal and adult forms of muscle acetylcholine receptor
    • Mishina, M., et al. 1986. Molecular distinction between fetal and adult forms of muscle acetylcholine receptor. Nature. 321:406-411.
    • (1986) Nature , vol.321 , pp. 406-411
    • Mishina, M.1
  • 22
    • 0026045588 scopus 로고
    • Gamma and delta subunits regulate the affinity and the cooperativity of ligand binding to the acetylcholine receptor
    • Sine, S.M., and Claudio, T. 1991. Gamma and delta subunits regulate the affinity and the cooperativity of ligand binding to the acetylcholine receptor. J. Biol. Chem. 266:19369-19377.
    • (1991) J. Biol. Chem. , vol.266 , pp. 19369-19377
    • Sine, S.M.1    Claudio, T.2
  • 23
    • 0010214174 scopus 로고
    • Amphipathic analysis and possible formation of the ion channel in an acetylcholine receptor
    • Finer-Moore, J., and Stroud, R.M. 1984. Amphipathic analysis and possible formation of the ion channel in an acetylcholine receptor. Proc. Natl. Acad. Sci. USA. 81:155-159.
    • (1984) Proc. Natl. Acad. Sci. USA , vol.81 , pp. 155-159
    • Finer-Moore, J.1    Stroud, R.M.2
  • 24
    • 0001509765 scopus 로고
    • Myasthenic syndromes
    • A.G. Engel and C. Franzini-Armstrong, editors. McGraw-Hill. New York, NY
    • Engel, A.G. 1994. Myasthenic syndromes. In Myology. 2nd edition. A.G. Engel and C. Franzini-Armstrong, editors. McGraw-Hill. New York, NY. 1798-1835.
    • (1994) Myology. 2nd Edition , pp. 1798-1835
    • Engel, A.G.1
  • 25
    • 0033027785 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes: Recent advances
    • Engel, A.G., Ohno, K., and Sine, S.M. 1999. Congenital myasthenic syndromes: recent advances. Arch. Neurol. 56:163-167.
    • (1999) Arch. Neurol. , vol.56 , pp. 163-167
    • Engel, A.G.1    Ohno, K.2    Sine, S.M.3
  • 26
    • 8244225989 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor ε subunit gene: Identification and functional characterization of six new mutations
    • Ohno, K., et al. 1997. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor ε subunit gene: identification and functional characterization of six new mutations. Hum. Mol. Genet. 6:753-766.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 753-766
    • Ohno, K.1
  • 27
    • 0029807971 scopus 로고    scopus 로고
    • Endplate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit
    • Engel, A.G., Ohno, K., Bouzat, C., Sine, S.M., and Griggs, R.G. 1996. Endplate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit. Ann. Neurol. 40:810-817.
    • (1996) Ann. Neurol. , vol.40 , pp. 810-817
    • Engel, A.G.1    Ohno, K.2    Bouzat, C.3    Sine, S.M.4    Griggs, R.G.5
  • 28
    • 20244383427 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes linked to chromosome 17p are caused by defects in acetylcholine receptor ε subunit gene
    • Middleton, L., et al. 1999. Congenital myasthenic syndromes linked to chromosome 17p are caused by defects in acetylcholine receptor ε subunit gene. Neurology. 53:1076-1082.
    • (1999) Neurology , vol.53 , pp. 1076-1082
    • Middleton, L.1
  • 29
    • 0032031997 scopus 로고    scopus 로고
    • Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor ε subunit
    • Milone, M., et al. 1998. Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor ε subunit. Neuron. 20:575-588.
    • (1998) Neuron , vol.20 , pp. 575-588
    • Milone, M.1
  • 30
    • 0032145364 scopus 로고    scopus 로고
    • Formation of the nicotinic acetylcholine receptor binding sites
    • Green, W.N., and Wanamaker, C.P. 1998. Formation of the nicotinic acetylcholine receptor binding sites. J. Neurosci. 18:5555-5564.
    • (1998) J. Neurosci. , vol.18 , pp. 5555-5564
    • Green, W.N.1    Wanamaker, C.P.2
  • 31
    • 0025605063 scopus 로고
    • Mutational analysis of muscle nicotinic acetylcholine receptor subunit assembly
    • Blount, P., and Merlie, J.P. 1990. Mutational analysis of muscle nicotinic acetylcholine receptor subunit assembly. J. Cell. Biol. 111:2613-2622.
    • (1990) J. Cell. Biol. , vol.111 , pp. 2613-2622
    • Blount, P.1    Merlie, J.P.2
  • 32
    • 0028118431 scopus 로고
    • The role of the cytoplasmic domains of individual subunits of the acetylcholine receptor in 43 kDa protein-induced clustering in COS cells
    • Yu, X.-M., and Hall, Z.W. 1994. The role of the cytoplasmic domains of individual subunits of the acetylcholine receptor in 43 kDa protein-induced clustering in COS cells J. Neurosci. 14:785-795.
    • (1994) J. Neurosci. , vol.14 , pp. 785-795
    • Yu, X.-M.1    Hall, Z.W.2
  • 33
    • 0021014066 scopus 로고
    • Crosslinking of proteins in acetylcholine receptor-rich membranes: Association between the β subunit and the 43 kD subsynaptic protein
    • Burden, S.J., De Palma, R.L., and Gottesman, G.S. 1983. Crosslinking of proteins in acetylcholine receptor-rich membranes: association between the β subunit and the 43 kD subsynaptic protein. Cell. 35:687-692.
    • (1983) Cell , vol.35 , pp. 687-692
    • Burden, S.J.1    De Palma, R.L.2    Gottesman, G.S.3
  • 34
    • 0033559789 scopus 로고    scopus 로고
    • Metabolic stabilization of muscle nicotinic acetylcholine receptor by rapsyn
    • Wang, Z.-Z., Mathias, A., Gautam, M., and Hall, Z.W. 1999. Metabolic stabilization of muscle nicotinic acetylcholine receptor by rapsyn. J. Neurosci. 19:1998-2007.
    • (1999) J. Neurosci. , vol.19 , pp. 1998-2007
    • Wang, Z.-Z.1    Mathias, A.2    Gautam, M.3    Hall, Z.W.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.