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Volumn 8, Issue 6, 2013, Pages

Axonal Transport Defects in a Mitofusin 2 Loss of Function Model of Charcot-Marie-Tooth Disease in Zebrafish

Author keywords

[No Author keywords available]

Indexed keywords

MITOFUSIN 2; GUANOSINE TRIPHOSPHATASE; MITOFUSIN 2 PROTEIN, ZEBRAFISH; ZEBRAFISH PROTEIN;

EID: 84879478992     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0067276     Document Type: Article
Times cited : (53)

References (34)
  • 1
    • 0035057837 scopus 로고    scopus 로고
    • Control of mitochondrial morphology by a human mitofusin
    • Santel A, Fuller MT, (2001) Control of mitochondrial morphology by a human mitofusin. J Cell Sci 114: 867-874.
    • (2001) J Cell Sci , vol.114 , pp. 867-874
    • Santel, A.1    Fuller, M.T.2
  • 3
    • 77950384477 scopus 로고    scopus 로고
    • Drosophila parkin requires PINK1 for mitochondrial translocation and ubiquitinates mitofusin
    • Ziviani E, Tao RN, Whitworth AJ, (2010) Drosophila parkin requires PINK1 for mitochondrial translocation and ubiquitinates mitofusin. Proc Natl Acad Sci U S A 107: 5018-5023.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 5018-5023
    • Ziviani, E.1    Tao, R.N.2    Whitworth, A.J.3
  • 4
    • 2442589922 scopus 로고    scopus 로고
    • Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
    • Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, et al. (2004) Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 36: 449-451.
    • (2004) Nat Genet , vol.36 , pp. 449-451
    • Züchner, S.1    Mersiyanova, I.V.2    Muglia, M.3    Bissar-Tadmouri, N.4    Rochelle, J.5
  • 6
    • 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, et al. (2003) Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development. J Cell Biol 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
  • 7
    • 38349185051 scopus 로고    scopus 로고
    • Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A
    • Detmer SA, Vande Velde C, Cleveland DW, Chan DC, (2008) Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A. Human molecular genetics 17: 367-375.
    • (2008) Human Molecular Genetics , vol.17 , pp. 367-375
    • Detmer, S.A.1    Vande Velde, C.2    Cleveland, D.W.3    Chan, D.C.4
  • 8
    • 80051534879 scopus 로고    scopus 로고
    • Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations
    • Polke JM, Laura M, Pareyson D, Taroni F, Milani M, et al. (2011) Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. Neurology 77: 168-173.
    • (2011) Neurology , vol.77 , pp. 168-173
    • Polke, J.M.1    Laura, M.2    Pareyson, D.3    Taroni, F.4    Milani, M.5
  • 9
    • 80052747407 scopus 로고    scopus 로고
    • A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy
    • Fyfe JC, Al-Tamimi RA, Liu J, Schaffer AA, Agarwala R, et al. (2011) A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. Neurogenetics 12: 223-232.
    • (2011) Neurogenetics , vol.12 , pp. 223-232
    • Fyfe, J.C.1    Al-Tamimi, R.A.2    Liu, J.3    Schaffer, A.A.4    Agarwala, R.5
  • 10
    • 79954531250 scopus 로고    scopus 로고
    • An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle
    • Drogemuller C, Reichart U, Seuberlich T, Oevermann A, Baumgartner M, et al. (2011) An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle. PLoS One 6: e18931.
    • (2011) PLoS One , vol.6
    • Drogemuller, C.1    Reichart, U.2    Seuberlich, T.3    Oevermann, A.4    Baumgartner, M.5
  • 11
    • 70350754456 scopus 로고    scopus 로고
    • Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects
    • Boon KL, Xiao S, McWhorter ML, Donn T, Wolf-Saxon E, et al. (2009) Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects. Human molecular genetics 18: 3615-3625.
    • (2009) Human Molecular Genetics , vol.18 , pp. 3615-3625
    • Boon, K.L.1    Xiao, S.2    McWhorter, M.L.3    Donn, T.4    Wolf-Saxon, E.5
  • 12
    • 0042887389 scopus 로고    scopus 로고
    • Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
    • McWhorter ML, Monani UR, Burghes AH, Beattie CE, (2003) Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol 162: 919-932.
    • (2003) J Cell Biol , vol.162 , pp. 919-932
    • McWhorter, M.L.1    Monani, U.R.2    Burghes, A.H.3    Beattie, C.E.4
  • 13
    • 78049287669 scopus 로고    scopus 로고
    • Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway
    • Fassier C, Hutt JA, Scholpp S, Lumsden A, Giros B, et al. (2010) Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway. Nature neuroscience 13: 1380-1387.
    • (2010) Nature Neuroscience , vol.13 , pp. 1380-1387
    • Fassier, C.1    Hutt, J.A.2    Scholpp, S.3    Lumsden, A.4    Giros, B.5
  • 15
    • 77956496676 scopus 로고    scopus 로고
    • A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease
    • Ramesh T, Lyon AN, Pineda RH, Wang C, Janssen PM, et al. (2010) A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease. Disease models & mechanisms 3: 652-662.
    • (2010) Disease Models & Mechanisms , vol.3 , pp. 652-662
    • Ramesh, T.1    Lyon, A.N.2    Pineda, R.H.3    Wang, C.4    Janssen, P.M.5
  • 16
    • 0001495141 scopus 로고
    • The respiratory metabolism and swimming performance of young sockeye salmon
    • Brett JR, (1964) The respiratory metabolism and swimming performance of young sockeye salmon. Journal of the Fisheries Research Board of Canada 21: 1183-1226.
    • (1964) Journal of the Fisheries Research Board of Canada , vol.21 , pp. 1183-1226
    • Brett, J.R.1
  • 17
    • 0034144044 scopus 로고    scopus 로고
    • Effects of fin size on swimming performance, swimming behaviour and routine activity of zebrafish Danio rerio
    • Plaut I, (2000) Effects of fin size on swimming performance, swimming behaviour and routine activity of zebrafish Danio rerio. J Exp Biol 203: 813-820.
    • (2000) J Exp Biol , vol.203 , pp. 813-820
    • Plaut, I.1
  • 19
    • 2142765951 scopus 로고    scopus 로고
    • A syntaxin 1, Galpha(o), and N-type calcium channel complex at a presynaptic nerve terminal: analysis by quantitative immunocolocalization
    • Li Q, Lau A, Morris TJ, Guo L, Fordyce CB, et al. (2004) A syntaxin 1, Galpha(o), and N-type calcium channel complex at a presynaptic nerve terminal: analysis by quantitative immunocolocalization. J Neurosci 24: 4070-4081.
    • (2004) J Neurosci , vol.24 , pp. 4070-4081
    • Li, Q.1    Lau, A.2    Morris, T.J.3    Guo, L.4    Fordyce, C.B.5
  • 21
    • 35548991459 scopus 로고    scopus 로고
    • Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content
    • De Vos KJ, Chapman AL, Tennant ME, Manser C, Tudor EL, et al. (2007) Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content. Hum Mol Genet 16: 2720-2728.
    • (2007) Hum Mol Genet , vol.16 , pp. 2720-2728
    • De Vos, K.J.1    Chapman, A.L.2    Tennant, M.E.3    Manser, C.4    Tudor, E.L.5
  • 22
    • 67449132352 scopus 로고    scopus 로고
    • Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients
    • Kasher PR, De Vos KJ, Wharton SB, Manser C, Bennett EJ, et al. (2009) Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients. Journal of neurochemistry 110: 34-44.
    • (2009) Journal of Neurochemistry , vol.110 , pp. 34-44
    • Kasher, P.R.1    De Vos, K.J.2    Wharton, S.B.3    Manser, C.4    Bennett, E.J.5
  • 23
    • 17144429793 scopus 로고    scopus 로고
    • Mitochondrial function and actin regulate dynamin-related protein 1-dependent mitochondrial fission
    • De Vos KJ, Allan VJ, Grierson AJ, Sheetz MP, (2005) Mitochondrial function and actin regulate dynamin-related protein 1-dependent mitochondrial fission. Curr Biol 15: 678-683.
    • (2005) Curr Biol , vol.15 , pp. 678-683
    • De Vos, K.J.1    Allan, V.J.2    Grierson, A.J.3    Sheetz, M.P.4
  • 25
    • 34547601410 scopus 로고    scopus 로고
    • Mitochondrial fusion protects against neurodegeneration in the cerebellum
    • Chen H, McCaffery JM, Chan DC, (2007) Mitochondrial fusion protects against neurodegeneration in the cerebellum. Cell 130: 548-562.
    • (2007) Cell , vol.130 , pp. 548-562
    • Chen, H.1    McCaffery, J.M.2    Chan, D.C.3
  • 26
    • 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, (2007) Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. J Neurosci 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
  • 28
    • 67649803117 scopus 로고    scopus 로고
    • Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A
    • Cartoni R, Martinou JC, (2009) Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. Experimental neurology 218: 268-273.
    • (2009) Experimental Neurology , vol.218 , pp. 268-273
    • Cartoni, R.1    Martinou, J.C.2
  • 29
    • 42749083274 scopus 로고    scopus 로고
    • Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A
    • Detmer SA, Velde CV, Cleveland DW, Chan DC (2007) Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A. Hum Mol Genet.
    • (2007) Hum Mol Genet
    • Detmer, S.A.1    Velde, C.V.2    Cleveland, D.W.3    Chan, D.C.4
  • 30
    • 84868127674 scopus 로고    scopus 로고
    • Loss of Mfn2 results in progressive, retrograde degeneration of dopaminergic neurons in the nigrostriatal circuit
    • Pham AH, Meng S, Chu QN, Chan DC, (2012) Loss of Mfn2 results in progressive, retrograde degeneration of dopaminergic neurons in the nigrostriatal circuit. Human molecular genetics 21: 4817-4826.
    • (2012) Human Molecular Genetics , vol.21 , pp. 4817-4826
    • Pham, A.H.1    Meng, S.2    Chu, Q.N.3    Chan, D.C.4
  • 31
    • 78650309622 scopus 로고    scopus 로고
    • Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: a new model for Charcot-Marie-Tooth type 2A neuropathy
    • Vettori A, Bergamin G, Moro E, Vazza G, Polo G, et al. (2011) Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: a new model for Charcot-Marie-Tooth type 2A neuropathy. Neuromuscular disorders: NMD 21: 58-67.
    • (2011) Neuromuscular Disorders: NMD , vol.21 , pp. 58-67
    • Vettori, A.1    Bergamin, G.2    Moro, E.3    Vazza, G.4    Polo, G.5
  • 33
    • 84866397909 scopus 로고    scopus 로고
    • The ADHD-susceptibility gene lphn3.1 modulates dopaminergic neuron formation and locomotor activity during zebrafish development
    • Lange M, Norton W, Coolen M, Chaminade M, Merker S, et al. (2012) The ADHD-susceptibility gene lphn3.1 modulates dopaminergic neuron formation and locomotor activity during zebrafish development. Molecular psychiatry 17: 946-954.
    • (2012) Molecular Psychiatry , vol.17 , pp. 946-954
    • Lange, M.1    Norton, W.2    Coolen, M.3    Chaminade, M.4    Merker, S.5
  • 34
    • 84868656581 scopus 로고    scopus 로고
    • EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
    • Van Hoecke A, Schoonaert L, Lemmens R, Timmers M, Staats KA, et al. (2012) EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nature medicine 18: 1418-1422.
    • (2012) Nature Medicine , vol.18 , pp. 1418-1422
    • Van Hoecke, A.1    Schoonaert, L.2    Lemmens, R.3    Timmers, M.4    Staats, K.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.