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Volumn 15, Issue 2, 2004, Pages 361-370

Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease

Author keywords

Connexin 32; Gap junction; Junctional conductance; N2A cells; Tracer coupling; X linked dominant Charcot Marie Tooth disease

Indexed keywords

CONNEXIN 32; MUTANT PROTEIN;

EID: 1542270715     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nbd.2003.11.005     Document Type: Article
Times cited : (47)

References (47)
  • 1
    • 0034027222 scopus 로고    scopus 로고
    • Mutations in connexin 32: The molecular and biophysical bases for the X-linked Charcot-Marie-Tooth disease
    • Abrams C.K., Oh S., Ri Y., Bargiello T.A. Mutations in connexin 32: the molecular and biophysical bases for the X-linked Charcot-Marie-Tooth disease. Brain Res. Rev. 32:2000;203-214.
    • (2000) Brain Res. Rev. , vol.32 , pp. 203-214
    • Abrams, C.K.1    Oh, S.2    Ri, Y.3    Bargiello, T.A.4
  • 2
    • 0035805077 scopus 로고    scopus 로고
    • Functional alterations in gap junction channels formed by mutant forms of connexin 32: Evidence for loss of function as a pathogenic mechanism in the X-linked Charcot-Marie-Tooth disease
    • Abrams C.K., Freidin M.M., Verselis V.K., Bennett M.V.L., Bargiello T.A. Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked Charcot-Marie-Tooth disease. Brain Res. 900:2001;9-25.
    • (2001) Brain Res. , vol.900 , pp. 9-25
    • Abrams, C.K.1    Freidin, M.M.2    Verselis, V.K.3    Bennett, M.V.L.4    Bargiello, T.A.5
  • 3
    • 0037133669 scopus 로고    scopus 로고
    • Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease
    • Abrams C.K., Bennett M.V.L., Verselis V.K., Bargiello T.A. Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease. Proc. Natl. Acad. Sci. U.S.A. 99:2002;3980-3984.
    • (2002) Proc. Natl. Acad. Sci. U.S.A. , vol.99 , pp. 3980-3984
    • Abrams, C.K.1    Bennett, M.V.L.2    Verselis, V.K.3    Bargiello, T.A.4
  • 4
    • 0036703632 scopus 로고    scopus 로고
    • Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems
    • Altevogt B.M., Kleopa K.A., Postma F.R., Scherer S.S., Paul D.L. Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems. J. Neurosci. 22:2002;6458-6470.
    • (2002) J. Neurosci. , vol.22 , pp. 6458-6470
    • Altevogt, B.M.1    Kleopa, K.A.2    Postma, F.R.3    Scherer, S.S.4    Paul, D.L.5
  • 5
    • 0030979840 scopus 로고    scopus 로고
    • Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin32
    • Anzini P., Neuberg D.H., Schachner M., Nelles E., Willecke K., Zielasek J., Toyka K., Suter U., Martini R. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin32. J. Neurosci. 17:1997;4545-4561.
    • (1997) J. Neurosci. , vol.17 , pp. 4545-4561
    • Anzini, P.1    Neuberg, D.H.2    Schachner, M.3    Nelles, E.4    Willecke, K.5    Zielasek, J.6    Toyka, K.7    Suter, U.8    Martini, R.9
  • 6
    • 0032563605 scopus 로고    scopus 로고
    • Functional gap junctions in the Schwann cell myelin sheath
    • Balice-Gordon R.J., Bone L.J., Scherer S.S. Functional gap junctions in the Schwann cell myelin sheath. J. Cell Biol. 142:1998;1095-1104.
    • (1998) J. Cell Biol. , vol.142 , pp. 1095-1104
    • Balice-Gordon, R.J.1    Bone, L.J.2    Scherer, S.S.3
  • 11
    • 0028018967 scopus 로고
    • Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease
    • Bruzzone R., White T.W., Scherer S.S., Fischbeck K.H., Paul D.L. Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron. 13:1994;1253-1260.
    • (1994) Neuron , vol.13 , pp. 1253-1260
    • Bruzzone, R.1    White, T.W.2    Scherer, S.S.3    Fischbeck, K.H.4    Paul, D.L.5
  • 12
    • 0029974655 scopus 로고    scopus 로고
    • Connections with connexins: The molecular basis of direct intercellular signaling
    • Bruzzone R., White T.W., Paul D.L. Connections with connexins: the molecular basis of direct intercellular signaling. Eur. J. Biochem. 238:1996;1-27.
    • (1996) Eur. J. Biochem. , vol.238 , pp. 1-27
    • Bruzzone, R.1    White, T.W.2    Paul, D.L.3
  • 13
    • 0344171987 scopus 로고    scopus 로고
    • Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations
    • Castro C., Gomez-Hernandez J.M., Silander K., Barrio L. Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations. J. Neurosci. 19:1999;3752-3760.
    • (1999) J. Neurosci. , vol.19 , pp. 3752-3760
    • Castro, C.1    Gomez-Hernandez, J.M.2    Silander, K.3    Barrio, L.4
  • 15
    • 0032171457 scopus 로고    scopus 로고
    • From Neuro-Glue to glia: A prologue
    • Dermietzel R., Spray D.C. From Neuro-Glue to glia: a prologue. Glia. 24:1998;1-8.
    • (1998) Glia , vol.24 , pp. 1-8
    • Dermietzel, R.1    Spray, D.C.2
  • 17
    • 0034784158 scopus 로고    scopus 로고
    • Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease
    • Dubourg O., Tardieu S., Birouk N., Gouider R., Leger J.M., Maisonobe T., Brice A., Bouche P., Le Guern E. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain. 124:2001;1958-1967.
    • (2001) Brain , vol.124 , pp. 1958-1967
    • Dubourg, O.1    Tardieu, S.2    Birouk, N.3    Gouider, R.4    Leger, J.M.5    Maisonobe, T.6    Brice, A.7    Bouche, P.8    Le Guern, E.9
  • 21
    • 0028088839 scopus 로고
    • Point mutations of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy
    • Ionasescu V.V., Searby C., Ionasescu R. Point mutations of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy. Hum. Mol. Genet. 3:1994;335-358.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 335-358
    • Ionasescu, V.V.1    Searby, C.2    Ionasescu, R.3
  • 22
    • 0029054613 scopus 로고
    • New point mutations and deletions of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy
    • Ionasescu V.V., Searby C., Ionasescu R., Meschino W. New point mutations and deletions of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy. Neuromuscular Dis. 5:1995;297-299.
    • (1995) Neuromuscular Dis. , vol.5 , pp. 297-299
    • Ionasescu, V.V.1    Searby, C.2    Ionasescu, R.3    Meschino, W.4
  • 24
    • 0036605376 scopus 로고    scopus 로고
    • Cellular mechanisms of connexin32 mutations associated with CNS manifestations
    • Kleopa K.A., Yum S.W., Scherer S.S. Cellular mechanisms of connexin32 mutations associated with CNS manifestations. J. Neurosci. Res. 68:2002;522-534.
    • (2002) J. Neurosci. Res. , vol.68 , pp. 522-534
    • Kleopa, K.A.1    Yum, S.W.2    Scherer, S.S.3
  • 25
    • 0035864383 scopus 로고    scopus 로고
    • Cx32 but not Cx26 is associated with tight junctions in primary cultures of rat hepatocytes
    • Kojima T., Kokai Y., Chiba H., Yamamoto M., Mochizuki Y., Sawada N. Cx32 but not Cx26 is associated with tight junctions in primary cultures of rat hepatocytes. Exp. Cell Res. 263:2001;193-201.
    • (2001) Exp. Cell Res. , vol.263 , pp. 193-201
    • Kojima, T.1    Kokai, Y.2    Chiba, H.3    Yamamoto, M.4    Mochizuki, Y.5    Sawada, N.6
  • 26
    • 0023033171 scopus 로고
    • Cloning and characterization of human and rat liver cDNAs encoding for a gap junction protein
    • Kumar N.M., Gilula N.B. Cloning and characterization of human and rat liver cDNAs encoding for a gap junction protein. J. Cell Biol. 103:1986;767-776.
    • (1986) J. Cell Biol. , vol.103 , pp. 767-776
    • Kumar, N.M.1    Gilula, N.B.2
  • 27
    • 0030028301 scopus 로고    scopus 로고
    • The gap junction communication channel
    • Kumar N.M., Gilula N.B. The gap junction communication channel. Cell. 84:1996;381-388.
    • (1996) Cell , vol.84 , pp. 381-388
    • Kumar, N.M.1    Gilula, N.B.2
  • 28
    • 0033963213 scopus 로고    scopus 로고
    • Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease
    • Martin P.E.M., Mambetisaeva E.T., Archer D.A., George C.H., Evans W.H. Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease. J. Neurochem. 74:2000;711-720.
    • (2000) J. Neurochem. , vol.74 , pp. 711-720
    • Martin, P.E.M.1    Mambetisaeva, E.T.2    Archer, D.A.3    George, C.H.4    Evans, W.H.5
  • 30
    • 0030777706 scopus 로고    scopus 로고
    • Changes in permeability caused by connexin 32 mutations underlies X-linked Charcot-Marie-Tooth disease
    • Oh S., Ri Y., Bennett M.L., Trexler E.B., Versalis V.K., Bargiello T.A. Changes in permeability caused by connexin 32 mutations underlies X-linked Charcot-Marie-Tooth disease. Neuron. 19:1997;927-938.
    • (1997) Neuron , vol.19 , pp. 927-938
    • Oh, S.1    Ri, Y.2    Bennett, M.L.3    Trexler, E.B.4    Versalis, V.K.5    Bargiello, T.A.6
  • 31
    • 0029977355 scopus 로고    scopus 로고
    • Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: Functional defects and dominant negative effects
    • Omori Y., Mensil M., Yamasaki H. Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects. Mol. Biol. Cell. 7:1996;907-916.
    • (1996) Mol. Biol. Cell , vol.7 , pp. 907-916
    • Omori, Y.1    Mensil, M.2    Yamasaki, H.3
  • 32
    • 0022531305 scopus 로고
    • Molecular cloning of cDNA for rat liver gap junction protein
    • Paul D.L. Molecular cloning of cDNA for rat liver gap junction protein. J. Cell Biol. 103:1986;123-134.
    • (1986) J. Cell Biol. , vol.103 , pp. 123-134
    • Paul, D.L.1
  • 34
    • 0028018109 scopus 로고
    • A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes
    • Rabadan-Diehl C., Dahl G., Werner R. A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes. FEBS Lett. 351:1994;90-94.
    • (1994) FEBS Lett. , vol.351 , pp. 90-94
    • Rabadan-Diehl, C.1    Dahl, G.2    Werner, R.3
  • 35
    • 0034070195 scopus 로고    scopus 로고
    • Connexin channels in Schwann cells and the development of the X-linked Charcot-Marie-Tooth disease
    • Ressot C., Bruzzone R. Connexin channels in Schwann cells and the development of the X-linked Charcot-Marie-Tooth disease. Brain Res. Rev. 32:2000;192-202.
    • (2000) Brain Res. Rev. , vol.32 , pp. 192-202
    • Ressot, C.1    Bruzzone, R.2
  • 36
    • 0032100768 scopus 로고    scopus 로고
    • Connexin 32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: Loss of function and altered gating properties
    • Ressot C., Gomes D., Dautigny A., Pham-Dinh D., Bruzzone R. Connexin 32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties. J. Neurosci. 18:1998;4063-4075.
    • (1998) J. Neurosci. , vol.18 , pp. 4063-4075
    • Ressot, C.1    Gomes, D.2    Dautigny, A.3    Pham-Dinh, D.4    Bruzzone, R.5
  • 38
    • 0031020530 scopus 로고    scopus 로고
    • Molecular genetics of demyelination: New wrinkles on an old membrane
    • Scherer S.S. Molecular genetics of demyelination: new wrinkles on an old membrane. Neuron. 18:1997;13-16.
    • (1997) Neuron , vol.18 , pp. 13-16
    • Scherer, S.S.1
  • 41
    • 0031765429 scopus 로고    scopus 로고
    • Diverse functions of vertebrate gap junctions
    • Simon A.M., Goodenough D.A. Diverse functions of vertebrate gap junctions. Trends Cell Biol. 8:1998;477-483.
    • (1998) Trends Cell Biol. , vol.8 , pp. 477-483
    • Simon, A.M.1    Goodenough, D.A.2
  • 42
    • 0029060906 scopus 로고
    • X-linked dominant Charcot-Marie-Tooth disease and other potential gap-junction diseases of the nervous system
    • Spray D.C., Dermietzel R. X-linked dominant Charcot-Marie-Tooth disease and other potential gap-junction diseases of the nervous system. Trends Neurosci. 18:1995;156-262.
    • (1995) Trends Neurosci. , vol.18 , pp. 156-262
    • Spray, D.C.1    Dermietzel, R.2
  • 43
    • 0029942648 scopus 로고    scopus 로고
    • Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie-Tooth disease
    • Tan C.C., Ainsworth P.J., Hahn A.F., MacLeod P.M. Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie-Tooth disease. Hum. Mutat. 7:1996;167-171.
    • (1996) Hum. Mutat. , vol.7 , pp. 167-171
    • Tan, C.C.1    Ainsworth, P.J.2    Hahn, A.F.3    MacLeod, P.M.4
  • 44
    • 0033048623 scopus 로고    scopus 로고
    • A conserved arginine in the distal third intracellular loop of the μ-opioid receptor is required for G protein activation
    • Wang H.L. A conserved arginine in the distal third intracellular loop of the μ-opioid receptor is required for G protein activation. J. Neurochem. 72:1999;1215-1222.
    • (1999) J. Neurochem. , vol.72 , pp. 1215-1222
    • Wang, H.L.1
  • 45
    • 0034738077 scopus 로고    scopus 로고
    • Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene
    • Wang H.L., Wu T., Chang W.T., Li A., Chen M.S., Wu C.Y., Fang W. Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene. Mol. Brain Res. 78:2000;146-153.
    • (2000) Mol. Brain Res. , vol.78 , pp. 146-153
    • Wang, H.L.1    Wu, T.2    Chang, W.T.3    Li, A.4    Chen, M.S.5    Wu, C.Y.6    Fang, W.7
  • 46
    • 0037315293 scopus 로고    scopus 로고
    • Functional analysis of connexin-26 mutants associated with hereditary recessive deafness
    • Wang H.L., Chang W.T., Li A., Yeh T.H., Wu C.Y., Chen M.S., Huang P.C. Functional analysis of connexin-26 mutants associated with hereditary recessive deafness. J. Neurochem. 84:2003;735-742.
    • (2003) J. Neurochem. , vol.84 , pp. 735-742
    • Wang, H.L.1    Chang, W.T.2    Li, A.3    Yeh, T.H.4    Wu, C.Y.5    Chen, M.S.6    Huang, P.C.7
  • 47
    • 0032518241 scopus 로고    scopus 로고
    • Mutations of connexin 32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression
    • Yoshimura T., Satake M., Ohnishi A., Tsutsumi Y., Fujikura Y. Mutations of connexin 32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression. J. Neurosci. Res. 51:1998;154-161.
    • (1998) J. Neurosci. Res. , vol.51 , pp. 154-161
    • Yoshimura, T.1    Satake, M.2    Ohnishi, A.3    Tsutsumi, Y.4    Fujikura, Y.5


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