메뉴 건너뛰기




Volumn 452, Issue 2, 2013, Pages 249-258

The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions

Author keywords

Connexin47; Gap junction; Hypomyelination; Pelizaeus Merzbacher like disease

Indexed keywords

CONNEXIN 43; CONNEXIN 47;

EID: 84877726260     PISSN: 02646021     EISSN: 14708728     Source Type: Journal    
DOI: 10.1042/BJ20121821     Document Type: Article
Times cited : (23)

References (54)
  • 1
    • 1942438964 scopus 로고    scopus 로고
    • Gap junctions and the connexin protein family
    • Sohl, G. and Willecke, K. (2004) Gap junctions and the connexin protein family. Cardiovasc. Res. 62, 228-232
    • (2004) Cardiovasc. Res. , vol.62 , pp. 228-232
    • Sohl, G.1    Willecke, K.2
  • 3
    • 17344390158 scopus 로고    scopus 로고
    • Plasma membrane channels formed by connexins: Their regulation and functions
    • Saez, J. C., Berthoud, V. M., Branes, M. C., Martinez, A. D. and Beyer, E. C. (2003) Plasma membrane channels formed by connexins: their regulation and functions. Physiol. Rev. 83, 1359-1400
    • (2003) Physiol. Rev. , vol.83 , pp. 1359-1400
    • Saez, J.C.1    Berthoud, V.M.2    Branes, M.C.3    Martinez, A.D.4    Beyer, E.C.5
  • 4
    • 26944484034 scopus 로고    scopus 로고
    • Connexin-47 and connexin-32 in gap junctions of oligodendrocyte somata, myelin sheaths, paranodal loops and Schmidt-Lanterman incisures: Implications for ionic homeostasis and potassium siphoning
    • Kamasawa, N., Sik, A., Morita, M., Yasumura, T., Davidson, K. G., Nagy, J. I. and Rash, J. E. (2005) Connexin-47 and connexin-32 in gap junctions of oligodendrocyte somata, myelin sheaths, paranodal loops and Schmidt-Lanterman incisures: implications for ionic homeostasis and potassium siphoning. Neuroscience 136, 65-86
    • (2005) Neuroscience , vol.136 , pp. 65-86
    • Kamasawa, N.1    Sik, A.2    Morita, M.3    Yasumura, T.4    Davidson, K.G.5    Nagy, J.I.6    Rash, J.E.7
  • 5
    • 23044435896 scopus 로고    scopus 로고
    • Astrocytes, from brain glue to communication elements: The revolution continues
    • Volterra, A. and Meldolesi, J. (2005) Astrocytes, from brain glue to communication elements: the revolution continues. Nat. Rev. Neurosci. 6, 626-640
    • (2005) Nat. Rev. Neurosci. , vol.6 , pp. 626-640
    • Volterra, A.1    Meldolesi, J.2
  • 6
    • 2942627583 scopus 로고    scopus 로고
    • Connexin47, connexin29 and connexin32 co-expression in oligodendrocytes and Cx47 association with zonula occludens-1 (ZO-1) in mouse brain
    • Li, X., Ionescu, A. V., Lynn, B. D., Lu, S., Kamasawa, N., Morita, M., Davidson, K. G., Yasumura, T., Rash, J. E. and Nagy, J. I. (2004) Connexin47, connexin29 and connexin32 co-expression in oligodendrocytes and Cx47 association with zonula occludens-1 (ZO-1) in mouse brain. Neuroscience 126, 611-630
    • (2004) Neuroscience , vol.126 , pp. 611-630
    • Li, X.1    Ionescu, A.V.2    Lynn, B.D.3    Lu, S.4    Kamasawa, N.5    Morita, M.6    Davidson, K.G.7    Yasumura, T.8    Rash, J.E.9    Nagy, J.I.10
  • 7
    • 2342548650 scopus 로고    scopus 로고
    • Four classes of intercellular channels between glial cells in the CNS
    • Altevogt, B. M. and Paul, D. L. (2004) Four classes of intercellular channels between glial cells in the CNS. J. Neurosci. 24, 4313-4323
    • (2004) J. Neurosci. , vol.24 , pp. 4313-4323
    • Altevogt, B.M.1    Paul, D.L.2
  • 8
    • 4644307412 scopus 로고    scopus 로고
    • Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes
    • Kleopa, K. A., Orthmann, J. L., Enriquez, A., Paul, D. L. and Scherer, S. S. (2004) Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes. Glia 47, 346-357
    • (2004) Glia , vol.47 , pp. 346-357
    • Kleopa, K.A.1    Orthmann, J.L.2    Enriquez, A.3    Paul, D.L.4    Scherer, S.S.5
  • 9
    • 0344528803 scopus 로고    scopus 로고
    • Late onset and increasing expression of the gap junction protein connexin30 in adult murine brain and long-term cultured astrocytes
    • Kunzelmann, P., Schroder, W., Traub, O., Steinhauser, C., Dermietzel, R. and Willecke, K. (1999) Late onset and increasing expression of the gap junction protein connexin30 in adult murine brain and long-term cultured astrocytes. Glia 25, 111-119
    • (1999) Glia , vol.25 , pp. 111-119
    • Kunzelmann, P.1    Schroder, W.2    Traub, O.3    Steinhauser, C.4    Dermietzel, R.5    Willecke, K.6
  • 11
    • 0025098001 scopus 로고
    • LM and em immunolocalization of the gap junctional protein connexin 43 in rat brain
    • Yamamoto, T., Ochalski, A., Hertzberg, E. L. and Nagy, J. I. (1990) LM and EM immunolocalization of the gap junctional protein connexin 43 in rat brain. Brain Res. 508, 313-319
    • (1990) Brain Res. , vol.508 , pp. 313-319
    • Yamamoto, T.1    Ochalski, A.2    Hertzberg, E.L.3    Nagy, J.I.4
  • 12
    • 0035944942 scopus 로고    scopus 로고
    • Connexin26 in adult rodent central nervous system: Demonstration at astrocytic gap junctions and colocalization with connexin30 and connexin43
    • Nagy, J. I., Li, X., Rempel, J., Stelmack, G., Patel, D., Staines, W. A., Yasumura, T. and Rash, J. E. (2001) Connexin26 in adult rodent central nervous system: demonstration at astrocytic gap junctions and colocalization with connexin30 and connexin43. J. Comp. Neurol. 441, 302-323
    • (2001) J. Comp. Neurol. , vol.441 , pp. 302-323
    • Nagy, J.I.1    Li, X.2    Rempel, J.3    Stelmack, G.4    Patel, D.5    Staines, W.A.6    Yasumura, T.7    Rash, J.E.8
  • 13
    • 2942614082 scopus 로고    scopus 로고
    • Update on connexins and gap junctions in neurons and glia in the mammalian nervous system
    • Nagy, J. I., Dudek, F. E. and Rash, J. E. (2004) Update on connexins and gap junctions in neurons and glia in the mammalian nervous system. Brain Res. Brain Res. Rev. 47, 191-215
    • (2004) Brain Res. Brain Res. Rev. , vol.47 , pp. 191-215
    • Nagy, J.I.1    Dudek, F.E.2    Rash, J.E.3
  • 14
    • 0035869546 scopus 로고    scopus 로고
    • Cell-specific expression of connexins and evidence of restricted gap junctional coupling between glial cells and between neurons
    • Rash, J. E., Yasumura, T., Dudek, F. E. and Nagy, J. I. (2001) Cell-specific expression of connexins and evidence of restricted gap junctional coupling between glial cells and between neurons. J. Neurosci. 21, 1983-2000
    • (2001) J. Neurosci. , vol.21 , pp. 1983-2000
    • Rash, J.E.1    Yasumura, T.2    Dudek, F.E.3    Nagy, J.I.4
  • 15
    • 78349271626 scopus 로고    scopus 로고
    • Functional heterotypic interactions between astrocyte and oligodendrocyte connexins
    • Magnotti, L. M., Goodenough, D. A. and Paul, D. L. (2011) Functional heterotypic interactions between astrocyte and oligodendrocyte connexins. Glia 59, 26-34
    • (2011) Glia , vol.59 , pp. 26-34
    • Magnotti, L.M.1    Goodenough, D.A.2    Paul, D.L.3
  • 16
    • 38449107562 scopus 로고    scopus 로고
    • Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins
    • Orthmann-Murphy, J. L., Freidin, M., Fischer, E., Scherer, S. S. and Abrams, C. K. (2007) Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins. J. Neurosci. 27, 13949-13957
    • (2007) J. Neurosci. , vol.27 , pp. 13949-13957
    • Orthmann-Murphy, J.L.1    Freidin, M.2    Fischer, E.3    Scherer, S.S.4    Abrams, C.K.5
  • 17
    • 77954422347 scopus 로고    scopus 로고
    • Oligodendrocytes in mouse corpus callosum are coupled via gap junction channels formed by connexin47 and connexin32
    • Maglione, M., Tress, O., Haas, B., Karram, K., Trotter, J., Willecke, K. and Kettenmann, H. (2010) Oligodendrocytes in mouse corpus callosum are coupled via gap junction channels formed by connexin47 and connexin32. Glia 58, 1104-1117
    • (2010) Glia , vol.58 , pp. 1104-1117
    • Maglione, M.1    Tress, O.2    Haas, B.3    Karram, K.4    Trotter, J.5    Willecke, K.6    Kettenmann, H.7
  • 18
    • 79954633706 scopus 로고    scopus 로고
    • Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte: oligodendrocyte gap junction coupling
    • Wasseff, S. K. and Scherer, S. S. (2011) Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling. Neurobiol. Dis. 42, 506-513
    • (2011) Neurobiol. Dis. , vol.42 , pp. 506-513
    • Wasseff, S.K.1    Scherer, S.S.2
  • 19
    • 79960969591 scopus 로고    scopus 로고
    • Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans
    • Tress, O., Maglione, M., Zlomuzica, A., May, D., Dicke, N., Degen, J., Dere, E., Kettenmann, H., Hartmann, D. and Willecke, K. (2011) Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans. PLoS Genet. 7, e1002146
    • (2011) PLoS Genet. , vol.7
    • Tress, O.1    Maglione, M.2    Zlomuzica, A.3    May, D.4    Dicke, N.5    Degen, J.6    Dere, E.7    Kettenmann, H.8    Hartmann, D.9    Willecke, K.10
  • 20
    • 33751119547 scopus 로고    scopus 로고
    • Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity
    • Menichella, D. M., Majdan, M., Awatramani, R., Goodenough, D. A., Sirkowski, E., Scherer, S. S. and Paul, D. L. (2006) Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity. J. Neurosci. 26, 10984-10991
    • (2006) J. Neurosci. , vol.26 , pp. 10984-10991
    • Menichella, D.M.1    Majdan, M.2    Awatramani, R.3    Goodenough, D.A.4    Sirkowski, E.5    Scherer, S.S.6    Paul, D.L.7
  • 21
    • 77953684814 scopus 로고    scopus 로고
    • Molecular disruptions of the panglial synctium block potassium siphoning and axonal saltatory conduction: Pertinence to neuromyelitis optica and other demyelinating diseases of the central nervous system
    • Rash, J. E. (2010) Molecular disruptions of the panglial synctium block potassium siphoning and axonal saltatory conduction: pertinence to neuromyelitis optica and other demyelinating diseases of the central nervous system. Neuroscience 168, 982-1008
    • (2010) Neuroscience , vol.168 , pp. 982-1008
    • Rash, J.E.1
  • 24
    • 84871204629 scopus 로고    scopus 로고
    • Expanded spectrum of Pelizaeus-Merzbacher-like disease: Literature revision and description of a novel GJC2 mutation in an unusually severe form
    • Biancheri, R., Rosano, C., Denegri, L., Lamantea, E., Pinto, F., Lanza, F., Severino, M. and Filocamo, M. (2013) Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form. Eur. J. Hum. Genet. 21, 34-39
    • (2013) Eur. J. Hum. Genet. , vol.21 , pp. 34-39
    • Biancheri, R.1    Rosano, C.2    Denegri, L.3    Lamantea, E.4    Pinto, F.5    Lanza, F.6    Severino, M.7    Filocamo, M.8
  • 25
    • 33947657477 scopus 로고    scopus 로고
    • Loss-of-function GJA12/connexin47 mutations cause Pelizaeus-Merzbacher- like disease
    • Orthmann-Murphy, J. L., Enriquez, A. D., Abrams, C. K. and Scherer, S. S. (2007) Loss-of-function GJA12/connexin47 mutations cause Pelizaeus-Merzbacher- like disease. Mol. Cell. Neurosci. 34, 629-641
    • (2007) Mol. Cell. Neurosci. , vol.34 , pp. 629-641
    • Orthmann-Murphy, J.L.1    Enriquez, A.D.2    Abrams, C.K.3    Scherer, S.S.4
  • 26
    • 77955982797 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction
    • Diekmann, S., Henneke, M., Burckhardt, B. C. and Gartner, J. (2010) Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction. Eur. J. Hum. Genet. 18, 985-992
    • (2010) Eur. J. Hum. Genet. , vol.18 , pp. 985-992
    • Diekmann, S.1    Henneke, M.2    Burckhardt, B.C.3    Gartner, J.4
  • 27
    • 77649185961 scopus 로고    scopus 로고
    • Two novel gap junction protein α 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease
    • Wang, J., Wang, H., Wang, Y., Chen, T., Wu, X. and Jiang, Y. (2010) Two novel gap junction protein α 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease. Brain Dev. 32, 236-243
    • (2010) Brain Dev , vol.32 , pp. 236-243
    • Wang, J.1    Wang, H.2    Wang, Y.3    Chen, T.4    Wu, X.5    Jiang, Y.6
  • 31
    • 15744381000 scopus 로고    scopus 로고
    • Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43
    • Roscoe, W., Veitch, G. I., Gong, X. Q., Pellegrino, E., Bai, D., McLachlan, E., Shao, Q., Kidder, G. M. and Laird, D. W. (2005) Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43. J. Biol. Chem. 280, 11458-11466
    • (2005) J. Biol. Chem. , vol.280 , pp. 11458-11466
    • Roscoe, W.1    Veitch, G.I.2    Gong, X.Q.3    Pellegrino, E.4    Bai, D.5    McLachlan, E.6    Shao, Q.7    Kidder, G.M.8    Laird, D.W.9
  • 33
    • 84858018605 scopus 로고    scopus 로고
    • Aspartic acid residue D3 critically determines Cx50 gap junction channel transjunctional voltage-dependent gating and unitary conductance
    • Xin, L., Nakagawa, S., Tsukihara, T. and Bai, D. (2012) Aspartic acid residue D3 critically determines Cx50 gap junction channel transjunctional voltage-dependent gating and unitary conductance. Biophys. J. 102, 1022-1031
    • (2012) Biophys. J. , vol.102 , pp. 1022-1031
    • Xin, L.1    Nakagawa, S.2    Tsukihara, T.3    Bai, D.4
  • 35
    • 39449116322 scopus 로고    scopus 로고
    • Diversity of preferred nucleotide sequences around the translation initiation codon in eukaryote genomes
    • Nakagawa, S., Niimura, Y., Gojobori, T., Tanaka, H. and Miura, K. (2008) Diversity of preferred nucleotide sequences around the translation initiation codon in eukaryote genomes. Nucleic Acids Res. 36, 861-871
    • (2008) Nucleic Acids Res , vol.36 , pp. 861-871
    • Nakagawa, S.1    Niimura, Y.2    Gojobori, T.3    Tanaka, H.4    Miura, K.5
  • 38
    • 0033012698 scopus 로고    scopus 로고
    • Trafficking, assembly, and function of a connexin43-green fluorescent protein chimera in live mammalian cells
    • Jordan, K., Solan, J. L., Dominguez, M., Sia, M., Hand, A., Lampe, P. D. and Laird, D. W. (1999) Trafficking, assembly, and function of a connexin43-green fluorescent protein chimera in live mammalian cells. Mol. Biol. Cell 10, 2033-2050
    • (1999) Mol. Biol. Cell , vol.10 , pp. 2033-2050
    • Jordan, K.1    Solan, J.L.2    Dominguez, M.3    Sia, M.4    Hand, A.5    Lampe, P.D.6    Laird, D.W.7
  • 39
    • 34547131839 scopus 로고    scopus 로고
    • Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia
    • Gong, X. Q., Shao, Q., Langlois, S., Bai, D. and Laird, D. W. (2007) Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia. J. Biol. Chem. 282, 19190-19202
    • (2007) J. Biol. Chem. , vol.282 , pp. 19190-19202
    • Gong, X.Q.1    Shao, Q.2    Langlois, S.3    Bai, D.4    Laird, D.W.5
  • 40
    • 0034474693 scopus 로고    scopus 로고
    • Connexin-specific distribution within gap junctions revealed in living cells
    • Falk, M. M. (2000) Connexin-specific distribution within gap junctions revealed in living cells. J. Cell Sci. 113, 4109-4120
    • (2000) J. Cell Sci. , vol.113 , pp. 4109-4120
    • Falk, M.M.1
  • 41
    • 79957603294 scopus 로고    scopus 로고
    • Asparagine 175 of connexin32 is a critical residue for docking and forming functional heterotypic gap junction channels with connexin26
    • Nakagawa, S., Gong, X. Q., Maeda, S., Dong, Y., Misumi, Y., Tsukihara, T. and Bai, D. (2011) Asparagine 175 of connexin32 is a critical residue for docking and forming functional heterotypic gap junction channels with connexin26. J. Biol. Chem. 286, 19672-19681
    • (2011) J. Biol. Chem. , vol.286 , pp. 19672-19681
    • Nakagawa, S.1    Gong, X.Q.2    Maeda, S.3    Dong, Y.4    Misumi, Y.5    Tsukihara, T.6    Bai, D.7
  • 42
    • 0028299152 scopus 로고
    • Opposite voltage gating polarities of two closely related connexins
    • Verselis, V. K., Ginter, C. S. and Bargiello, T. A. (1994) Opposite voltage gating polarities of two closely related connexins. Nature 368, 348-351
    • (1994) Nature , vol.368 , pp. 348-351
    • Verselis, V.K.1    Ginter, C.S.2    Bargiello, T.A.3
  • 44
    • 3242665300 scopus 로고    scopus 로고
    • Amino terminal glutamate residues confer spermine sensitivity and affect voltage gating and channel conductance of rat connexin40 gap junctions
    • Musa, H., Fenn, E., Crye, M., Gemel, J., Beyer, E. C. and Veenstra, R. D. (2004) Amino terminal glutamate residues confer spermine sensitivity and affect voltage gating and channel conductance of rat connexin40 gap junctions. J. Physiol. 557, 863-878
    • (2004) J. Physiol. , vol.557 , pp. 863-878
    • Musa, H.1    Fenn, E.2    Crye, M.3    Gemel, J.4    Beyer, E.C.5    Veenstra, R.D.6
  • 46
    • 84861595228 scopus 로고    scopus 로고
    • Structural organization of intercellular channels II. Amino terminal domain of the connexins: Sequence, functional roles, and structure
    • Beyer, E. C., Lipkind, G. M., Kyle, J. W. and Berthoud, V. M. (2012) Structural organization of intercellular channels II. Amino terminal domain of the connexins: sequence, functional roles, and structure. Biochim. Biophys. Acta 1818, 1823-1830
    • (2012) Biochim. Biophys. Acta , vol.1818 , pp. 1823-1830
    • Beyer, E.C.1    Lipkind, G.M.2    Kyle, J.W.3    Berthoud, V.M.4
  • 47
    • 79953690482 scopus 로고    scopus 로고
    • Structure of the gap junction channel and its implications for its biological functions
    • Maeda, S. and Tsukihara, T. (2011) Structure of the gap junction channel and its implications for its biological functions. Cell. Mol. Life Sci. 68, 1115-1129
    • (2011) Cell. Mol. Life Sci. , vol.68 , pp. 1115-1129
    • Maeda, S.1    Tsukihara, T.2
  • 48
    • 0029035158 scopus 로고
    • Use of alternate promoters for tissue-specific expression of the gene coding for connexin32
    • Neuhaus, I. M., Dahl, G. and Werner, R. (1995) Use of alternate promoters for tissue-specific expression of the gene coding for connexin32. Gene 158, 257-262
    • (1995) Gene , vol.158 , pp. 257-262
    • Neuhaus, I.M.1    Dahl, G.2    Werner, R.3
  • 49
    • 33646150467 scopus 로고    scopus 로고
    • Non-syndromic, autosomal-recessive deafness
    • Petersen, M. B. and Willems, P. J. (2006) Non-syndromic, autosomal-recessive deafness. Clin. Genet. 69, 371-392
    • (2006) Clin. Genet. , vol.69 , pp. 371-392
    • Petersen, M.B.1    Willems, P.J.2
  • 50
    • 77951636202 scopus 로고    scopus 로고
    • Connexin-26 mutations in deafness and skin disease
    • Lee, J. R. and White, T. W. (2009) Connexin-26 mutations in deafness and skin disease. Expert Rev. Mol. Med. 11, e35
    • (2009) Expert Rev. Mol. Med. , vol.11
    • Lee, J.R.1    White, T.W.2
  • 51
    • 84871204629 scopus 로고    scopus 로고
    • Expanded spectrum of Pelizaeus-Merzbacher-like disease: Literature revision and description of a novel GJC2 mutation in an unusually severe form
    • Biancheri, R., Rosano, C., Denegri, L., Lamantea, E., Pinto, F., Lanza, F., Severino, M. and Filocamo, M. (2013) Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form. Eur. J. Hum. Genet. 21, 34-39
    • (2013) Eur. J. Hum. Genet. , vol.21 , pp. 34-39
    • Biancheri, R.1    Rosano, C.2    Denegri, L.3    Lamantea, E.4    Pinto, F.5    Lanza, F.6    Severino, M.7    Filocamo, M.8
  • 52
    • 0038456539 scopus 로고    scopus 로고
    • Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS
    • Odermatt, B., Wellershaus, K., Wallraff, A., Seifert, G., Degen, J., Euwens, C., Fuss, B., Bussow, H., Schilling, K., Steinhauser, C. and Willecke, K. (2003) Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS. J. Neurosci. 23, 4549-4559
    • (2003) J. Neurosci. , vol.23 , pp. 4549-4559
    • Odermatt, B.1    Wellershaus, K.2    Wallraff, A.3    Seifert, G.4    Degen, J.5    Euwens, C.6    Fuss, B.7    Bussow, H.8    Schilling, K.9    Steinhauser, C.10    Willecke, K.11
  • 53
    • 84869501779 scopus 로고    scopus 로고
    • How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
    • Kleopa, K. A., Abrams, C. K. and Scherer, S. S. (2012) How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease? Brain Res. 1487, 198-205
    • (2012) Brain Res , vol.1487 , pp. 198-205
    • Kleopa, K.A.1    Abrams, C.K.2    Scherer, S.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.