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Volumn 133, Issue 5, 2010, Pages 1460-1469

Expression of mitofusin 2R94Q in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A

Author keywords

Charcot Marie Tooth type 2A; Mitochondrial fusion; Mitofusin 2; Mouse model; Transgenic mouse

Indexed keywords

COMPLEMENTARY DNA; MITOFUSIN 2;

EID: 77951896551     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awq082     Document Type: Article
Times cited : (94)

References (29)
  • 1
    • 0033772264 scopus 로고    scopus 로고
    • OPA1, encoding a dynamin-related GTPase, is mutated in auto-somal dominant optic atrophy linked to chromosome 3q28
    • Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, et al. OPA1, encoding a dynamin-related GTPase, is mutated in auto-somal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000; 26: 211-215
    • (2000) Nat Genet , vol.26 , pp. 211-215
    • Alexander, C.1    Votruba, M.2    Pesch, U.E.3    Thiselton, D.L.4    Mayer, S.5    Moore, A.6
  • 3
    • 70350465107 scopus 로고    scopus 로고
    • SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
    • Arnaud E, Zenker J, DePreux Charles A, Stendel C, Roos A, Medard J, et al. SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. Proc Natl Acad Sci USA 2009; 106: 17528-17533
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 17528-17533
    • Arnaud, E.1    Zenker, J.2    Depreux Charles, A.3    Stendel, C.4    Roos, A.5    Medard, J.6
  • 4
    • 33846224191 scopus 로고    scopus 로고
    • Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations
    • Baloh RH, Schmidt RE, Pestronk A, Milbrandt J. Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. J Neurosci 2007; 27: 422-430
    • (2007) J Neurosci , vol.27 , pp. 422-430
    • Baloh, R.H.1    Schmidt, R.E.2    Pestronk, A.3    Milbrandt, J.4
  • 5
    • 67649803117 scopus 로고    scopus 로고
    • Role of mitofusin 2 mutations in the physio-pathology of Charcot-Marie-Tooth disease type 2A
    • Cartoni R, Martinou JC. Role of mitofusin 2 mutations in the physio-pathology of Charcot-Marie-Tooth disease type 2A. Exp Neurol 2009; 218: 268-273
    • (2009) Exp Neurol , vol.218 , pp. 268-273
    • Cartoni, R.1    Martinou, J.C.2
  • 6
    • 23844494686 scopus 로고    scopus 로고
    • Mitofusins 1/2 and ERRalpha expression are increased in human skeletal muscle after physical exercise
    • Cartoni R, Leger B, Hock MB, Praz M, Crettenand A, Pich S, et al. Mitofusins 1/2 and ERRalpha expression are increased in human skeletal muscle after physical exercise. J Physiol 2005; 567: 349-358
    • (2005) J Physiol , vol.567 , pp. 349-358
    • Cartoni, R.1    Leger, B.2    Hock, M.B.3    Praz, M.4    Crettenand, A.5    Pich, S.6
  • 7
    • 33750445482 scopus 로고    scopus 로고
    • Mitochondrial fusion and fission in mammals
    • Chan DC. Mitochondrial fusion and fission in mammals. Annu Rev Cell Dev Biol 2006; 22: 79-99.
    • (2006) Annu Rev Cell Dev Biol , vol.22 , pp. 79-99
    • Chan, D.C.1
  • 8
    • 0037455575 scopus 로고    scopus 로고
    • Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development
    • Chen H, Detmer SA, Ewald AJ, Griffin EE, Fraser SE, Chan DC. Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development. J Cell Biol 2003; 160: 189-200.
    • (2003) J Cell Biol , vol.160 , pp. 189-200
    • Chen, H.1    Detmer, S.A.2    Ewald, A.J.3    Griffin, E.E.4    Fraser, S.E.5    Chan, D.C.6
  • 9
    • 34547601410 scopus 로고    scopus 로고
    • Mitochondrial fusion protects against neurodegeneration in the cerebellum
    • Chen H, McCaffery JM, Chan DC. Mitochondrial fusion protects against neurodegeneration in the cerebellum. Cell 2007; 130: 548-562
    • (2007) Cell , vol.130 , pp. 548-562
    • Chen, H.1    McCaffery, J.M.2    Chan, D.C.3
  • 10
    • 33747872317 scopus 로고    scopus 로고
    • Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations
    • Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 2006; 129: 2103-2118
    • (2006) Brain , vol.129 , pp. 2103-2118
    • Chung, K.W.1    Kim, S.B.2    Park, K.D.3    Choi, K.G.4    Lee, J.H.5    Eun, H.W.6
  • 11
    • 20244381365 scopus 로고    scopus 로고
    • Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
    • Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000; 26: 207-210
    • (2000) Nat Genet , vol.26 , pp. 207-210
    • Delettre, C.1    Lenaers, G.2    Griffoin, J.M.3    Gigarel, N.4    Lorenzo, C.5    Belenguer, P.6
  • 12
    • 33846952150 scopus 로고    scopus 로고
    • Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations
    • Detmer SA, Chan DC. Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations. J Cell Biol 2007a; 176: 405-414
    • (2007) J Cell Biol , vol.176 , pp. 405-414
    • Detmer, S.A.1    Chan, D.C.2
  • 13
    • 35448960851 scopus 로고    scopus 로고
    • Functions and dysfunctions of mitochondrial dynamics
    • Detmer SA, Chan DC. Functions and dysfunctions of mitochondrial dynamics. Nat Rev Mol Cell Biol 2007b; 8: 870-879
    • (2007) Nat Rev Mol Cell Biol , vol.8 , pp. 870-879
    • Detmer, S.A.1    Chan, D.C.2
  • 14
    • 38349185051 scopus 로고    scopus 로고
    • Hindlimb gait defects due to motor axon loss and reduced distal muscles in a trans-genic mouse model of Charcot-Marie-Tooth type 2A
    • Detmer SA, Vande Velde C, Cleveland DW, Chan DC. Hindlimb gait defects due to motor axon loss and reduced distal muscles in a trans-genic mouse model of Charcot-Marie-Tooth type 2A. Hum Mol Genet 2008; 17: 367-375
    • (2008) Hum Mol Genet , vol.17 , pp. 367-375
    • Detmer, S.A.1    Vande Velde, C.2    Cleveland, D.W.3    Chan, D.C.4
  • 15
    • 0142058391 scopus 로고    scopus 로고
    • Two mitofusin proteins, mammalian homologues of FZO, with distinct functions are both required for mitochondrial fusion
    • Eura Y, Ishihara N, Yokota S, Mihara K. Two mitofusin proteins, mammalian homologues of FZO, with distinct functions are both required for mitochondrial fusion. J Biochem (Tokyo) 2003; 134: 333-344
    • (2003) J Biochem (Tokyo) , vol.134 , pp. 333-344
    • Eura, Y.1    Ishihara, N.2    Yokota, S.3    Mihara, K.4
  • 16
    • 0025063668 scopus 로고
    • Transgenic mice expressing beta-galactosidase in mature neurons under neuron-specific enolase promoter control
    • Forss-Petter S, Danielson PE, Catsicas S, Battenberg E, Price J, Nerenberg M, et al. Transgenic mice expressing beta-galactosidase in mature neurons under neuron-specific enolase promoter control. Neuron 1990; 5: 187-197
    • (1990) Neuron , vol.5 , pp. 187-197
    • Forss-Petter, S.1    Danielson, P.E.2    Catsicas, S.3    Battenberg, E.4    Price, J.5    Nerenberg, M.6
  • 17
    • 68249142763 scopus 로고    scopus 로고
    • Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations
    • discussion 160-161
    • Funalot B, Magdelaine C, Sturtz F, Ouvrier R, Vallat JM. Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations. Bull Acad Natl Med 2009; 193: 151-60; discussion 160-161
    • (2009) Bull Acad Natl Med , vol.193 , pp. 151-60
    • Funalot, B.1    Magdelaine, C.2    Sturtz, F.3    Ouvrier, R.4    Vallat, J.M.5
  • 19
    • 19944425973 scopus 로고    scopus 로고
    • Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A
    • Kijima K, Numakura C, Izumino H, Umetsu K, Nezu A, Shiiki T, et al. Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. Hum Genet 2005; 116: 23-27
    • (2005) Hum Genet , vol.116 , pp. 23-27
    • Kijima, K.1    Numakura, C.2    Izumino, H.3    Umetsu, K.4    Nezu, A.5    Shiiki, T.6
  • 20
    • 0027944004 scopus 로고
    • Overexpression of BCL-2 in transgenic mice protects neurons from naturally occurring cell death and experimental ischemia
    • Martinou JC, Dubois-Dauphin M, Staple JK, Rodriguez I, Frankowski H, Missotten M, et al. Overexpression of BCL-2 in transgenic mice protects neurons from naturally occurring cell death and experimental ischemia. Neuron 1994; 13: 1017-1030
    • (1994) Neuron , vol.13 , pp. 1017-1030
    • Martinou, J.C.1    Dubois-Dauphin, M.2    Staple, J.K.3    Rodriguez, I.4    Frankowski, H.5    Missotten, M.6
  • 21
    • 60149083988 scopus 로고    scopus 로고
    • Molecular mechanisms of inherited demyelinating neuropathies
    • Scherer SS, Wrabetz L. Molecular mechanisms of inherited demyelinating neuropathies. Glia 2008; 56: 1578-1589
    • (2008) Glia , vol.56 , pp. 1578-1589
    • Scherer, S.S.1    Wrabetz, L.2
  • 23
    • 33748545328 scopus 로고    scopus 로고
    • An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model
    • Seburn KL, Nangle LA, Cox GA, Schimmel P, Burgess RW. An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. Neuron 2006; 51: 715-726
    • (2006) Neuron , vol.51 , pp. 715-726
    • Seburn, K.L.1    Nangle, L.A.2    Cox, G.A.3    Schimmel, P.4    Burgess, R.W.5
  • 24
    • 0016266593 scopus 로고
    • Genetic and clinical aspects of Charcot-Marie-Tooth's disease
    • Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974; 6: 98-118.
    • (1974) Clin Genet , vol.6 , pp. 98-118
    • Skre, H.1
  • 25
    • 0025728907 scopus 로고
    • Compound action potential of nerve recorded by suction electrode: A theoretical and experimental analysis
    • Stys PK, Ransom BR, Waxman SG. Compound action potential of nerve recorded by suction electrode: a theoretical and experimental analysis. Brain Res 1991; 546: 18-32.
    • (1991) Brain Res , vol.546 , pp. 18-32
    • Stys, P.K.1    Ransom, B.R.2    Waxman, S.G.3
  • 26
    • 58149241066 scopus 로고    scopus 로고
    • Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations
    • Vallat JM, Ouvrier RA, Pollard JD, Magdelaine C, Zhu D, Nicholson GA, et al. Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. J Neuropathol Exp Neurol 2008; 67: 1097-1102
    • (2008) J Neuropathol Exp Neurol , vol.67 , pp. 1097-1102
    • Vallat, J.M.1    Ouvrier, R.A.2    Pollard, J.D.3    Magdelaine, C.4    Zhu, D.5    Nicholson, G.A.6
  • 27
    • 33747884623 scopus 로고    scopus 로고
    • MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
    • Verhoeven K, Claeys KG, Zuchner S, Schroder JM, Weis J, Ceuterick C, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain 2006; 129: 2093-2102
    • (2006) Brain , vol.129 , pp. 2093-2102
    • Verhoeven, K.1    Claeys, K.G.2    Zuchner, S.3    Schroder, J.M.4    Weis, J.5    Ceuterick, C.6


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