메뉴 건너뛰기




Volumn 652, Issue , 2009, Pages 129-137

The role of mitochondrial network dynamics in the pathogenesis of charcot-marie-tooth disease

Author keywords

Charcot Marie Tooth disease; GDAP1; Mitochondrial dynamics; Mitochondrial fusion and fission; Mitofusin 2; Mitofusins

Indexed keywords

DYNAMIN; DYNAMIN RELATED PROTEIN 1; GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1; MITOFUSIN 1; MITOFUSIN 2; PARKIN; PROTEIN OPA1; PROTEIN PINK1; PROTEIN SERINE THREONINE KINASE; REACTIVE OXYGEN METABOLITE; SPASTIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

EID: 77950346308     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-90-481-2813-6_9     Document Type: Conference Paper
Times cited : (29)

References (47)
  • 2
    • 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(2):98-118.
    • (1974) Clin Genet , vol.6 , Issue.2 , pp. 98-118
    • Skre, H.1
  • 3
    • 48249156188 scopus 로고    scopus 로고
    • Mitochondrial disorders in the nervous system
    • DiMauro S, Schon EA. Mitochondrial disorders in the nervous system. Annu Rev Neurosci 2008;31:91-123.
    • (2008) Annu Rev Neurosci , vol.31 , pp. 91-123
    • DiMauro, S.1    Schon, E.A.2
  • 5
    • 33750347347 scopus 로고    scopus 로고
    • Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases
    • DOI 10.1038/nature05292, PII NATURE05292
    • Lin MT, Beal MF. Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature 2006;443(7113):787-795. (Pubitemid 44622683)
    • (2006) Nature , vol.443 , Issue.7113 , pp. 787-795
    • Lin, M.T.1    Beal, M.F.2
  • 6
    • 55749090654 scopus 로고    scopus 로고
    • The Parkinson's disease genes pink1 and parkin promote mitochondrial fission and/or inhibit fusion in Drosophila
    • Deng H, Dodson MW, Huang H, et al. The Parkinson's disease genes pink1 and parkin promote mitochondrial fission and/or inhibit fusion in Drosophila. Proc Natl Acad Sci U S A 2008;105(38):14503-14508.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , Issue.38 , pp. 14503-14508
    • Deng, H.1    Dodson, M.W.2    Huang, H.3
  • 8
    • 36048945306 scopus 로고    scopus 로고
    • Regulation of mitochondrial fusion and division
    • DOI 10.1016/j.tcb.2007.08.006, PII S0962892407002280
    • Cerveny KL, Tamura Y, Zhang Z, et al. Regulation of mitochondrial fusion and division. Trends Cell Biol 2007;17(11):563-569. (Pubitemid 350087661)
    • (2007) Trends in Cell Biology , vol.17 , Issue.11 , pp. 563-569
    • Cerveny, K.L.1    Tamura, Y.2    Zhang, Z.3    Jensen, R.E.4    Sesaki, H.5
  • 9
    • 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
  • 10
    • 35448960851 scopus 로고    scopus 로고
    • Functions and dysfunctions of mitochondrial dynamics
    • DOI 10.1038/nrm2275, PII NRM2275
    • Detmer SA, Chan DC. Functions and dysfunctions of mitochondrial dynamics. Nat Rev Mol Cell Biol 2007;8(11):870-879. (Pubitemid 47622562)
    • (2007) Nature Reviews Molecular Cell Biology , vol.8 , Issue.11 , pp. 870-879
    • Detmer, S.A.1    Chan, D.C.2
  • 11
    • 22544465572 scopus 로고    scopus 로고
    • Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene
    • DOI 10.1212/01.wnl.0000168898.76071.70
    • Lawson VH, Graham BV, Flanigan KM. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 2005;65(2):197-204. (Pubitemid 41022361)
    • (2005) Neurology , vol.65 , Issue.2 , pp. 197-204
    • Lawson, V.H.1    Graham, B.V.2    Flanigan, K.M.3
  • 13
    • 0033772264 scopus 로고    scopus 로고
    • OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
    • Alexander C, Votruba M, Pesch UE, et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000;26(2):211-115.
    • (2000) Nat Genet , vol.26 , Issue.2 , pp. 211-115
    • Alexander, C.1    Votruba, M.2    Pesch, U.E.3
  • 14
    • 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, et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000;26(2): 207-210.
    • (2000) Nat Genet , vol.26 , Issue.2 , pp. 207-210
    • Delettre, C.1    Lenaers, G.2    Griffoin, J.M.3
  • 15
    • 0037455575 scopus 로고    scopus 로고
    • Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development
    • DOI 10.1083/jcb.200211046
    • Chen H, Detmer SA, Ewald AJ, et al. Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development. J Cell Biol 2003;160(2): 189-200. (Pubitemid 36254953)
    • (2003) Journal of Cell Biology , vol.160 , Issue.2 , 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
  • 16
    • 3843075121 scopus 로고    scopus 로고
    • Structural basis of mitochondrial tethering by mitofusin complexes
    • DOI 10.1126/science.1099793
    • Koshiba T, Detmer SA, Kaiser JT, et al. Structural basis of mitochondrial tethering by mitofusin complexes. Science 2004;305(5685):858-862. (Pubitemid 39038419)
    • (2004) Science , vol.305 , Issue.5685 , pp. 858-862
    • Koshiba, T.1    Detmer, S.A.2    Kaiser, J.T.3    Chen, H.4    McCaffery, J.M.5    Chan, D.C.6
  • 17
    • 38349000606 scopus 로고    scopus 로고
    • Mitofusin 2: A mitochondria-shaping protein with signaling roles beyond fusion
    • de Brito OM, Scorrano L. Mitofusin 2: a mitochondria-shaping protein with signaling roles beyond fusion. Antioxid Redox Signal 2008;10(3):621-633.
    • (2008) Antioxid Redox Signal , vol.10 , Issue.3 , pp. 621-633
    • De Brito, O.M.1    Scorrano, L.2
  • 18
    • 57349100367 scopus 로고    scopus 로고
    • Mitofusin 2 tethers endoplasmic reticulum to mitochondria
    • de Brito OM, Scorrano L. Mitofusin 2 tethers endoplasmic reticulum to mitochondria. Nature 2008;456(7222):605-610.
    • (2008) Nature , vol.456 , Issue.7222 , pp. 605-610
    • De Brito, O.M.1    Scorrano, L.2
  • 21
    • 0033571410 scopus 로고    scopus 로고
    • Division versus fusion: Dnm1p and Fzo1p antagonistically regulate mitochondrial shape
    • Sesaki H, Jensen RE. Division versus fusion: Dnm1p and Fzo1p antagonistically regulate mitochondrial shape. J Cell Biol 1999;147(4):699-706.
    • (1999) J Cell Biol , vol.147 , Issue.4 , pp. 699-706
    • Sesaki, H.1    Jensen, R.E.2
  • 24
    • 27144557499 scopus 로고    scopus 로고
    • A role for Fis1 in both mitochondrial and peroxisomal fission in mammalian cells
    • DOI 10.1091/mbc.E05-02-0159
    • Koch A, Yoon Y, Bonekamp NA, et al. A role for Fis1 in both mitochondrial and peroxisomal fission in mammalian cells.Mol Biol Cell 2005;16(11):5077-5086. (Pubitemid 41566821)
    • (2005) Molecular Biology of the Cell , vol.16 , Issue.11 , pp. 5077-5086
    • Koch, A.1    Yoon, Y.2    Bonekamp, N.A.3    McNiven, M.A.4    Schrader, M.5
  • 26
    • 25444514731 scopus 로고    scopus 로고
    • Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: New implications for Charcot-Marie-Tooth disease
    • DOI 10.1083/jcb.200507087
    • Niemann A, Ruegg M, La Padula V, et al. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol 2005;170(7):1067-1078. (Pubitemid 41362639)
    • (2005) Journal of Cell Biology , vol.170 , Issue.7 , pp. 1067-1078
    • Niemann, A.1    Ruegg, M.2    La Padula, V.3    Schenone, A.4    Suter, U.5
  • 27
    • 17744376804 scopus 로고    scopus 로고
    • GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria
    • DOI 10.1093/hmg/ddi121
    • Pedrola L, Espert A, Wu X, et al. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet 2005;14(8):1087-1094. (Pubitemid 40575884)
    • (2005) Human Molecular Genetics , vol.14 , Issue.8 , pp. 1087-1094
    • Pedrola, L.1    Espert, A.2    Wu, X.3    Claramunt, R.4    Shy, M.E.5    Palau, F.6
  • 28
    • 18544385024 scopus 로고    scopus 로고
    • Ganglioside-induced differentiationassociated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
    • Baxter RV, Ben Othmane K, Rochelle JM, et al. Ganglioside-induced differentiationassociated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 2002;30(1):21-22.
    • (2002) Nat Genet , vol.30 , Issue.1 , pp. 21-22
    • Baxter, R.V.1    Ben Othmane, K.2    Rochelle, J.M.3
  • 29
    • 18544388962 scopus 로고    scopus 로고
    • The gene encoding ganglioside-induced differentiationassociated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
    • Cuesta A, Pedrola L, Sevilla T, et al. The gene encoding ganglioside-induced differentiationassociated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 2002; 30(1):22-25.
    • (2002) Nat Genet , vol.30 , Issue.1 , pp. 22-25
    • Cuesta, A.1    Pedrola, L.2    Sevilla, T.3
  • 33
    • 20444461625 scopus 로고    scopus 로고
    • The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system
    • DOI 10.1093/hmg/ddi149
    • Pich S, Bach D, Briones P, et al. The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system. Hum Mol Genet 2005;14(11):1405-1415. (Pubitemid 40823451)
    • (2005) Human Molecular Genetics , vol.14 , Issue.11 , pp. 1405-1415
    • Pich, S.1    Bach, D.2    Briones, P.3    Liesa, M.4    Camps, M.5    Testar, X.6    Palacin, M.7    Zorzano, A.8
  • 34
    • 33846224191 scopus 로고    scopus 로고
    • Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations
    • DOI 10.1523/JNEUROSCI.4798-06.2007
    • Baloh RH, Schmidt RE, Pestronk A, et al. Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. J Neurosci 2007;27(2):422-430. (Pubitemid 46106016)
    • (2007) Journal of Neuroscience , vol.27 , Issue.2 , pp. 422-430
    • Baloh, R.H.1    Schmidt, R.E.2    Pestronk, A.3    Milbrandt, J.4
  • 35
    • 0041821401 scopus 로고    scopus 로고
    • Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene
    • DOI 10.1093/brain/awg202
    • Sevilla T, Cuesta A, Chumillas MJ, et al. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 2003;126(Pt 9):2023-2033. (Pubitemid 37059442)
    • (2003) Brain , vol.126 , Issue.9 , pp. 2023-2033
    • Sevilla, T.1    Cuesta, A.2    Chumillas, M.J.3    Mayordomo, F.4    Pedrola, L.5    Palau, F.6    Vilchez, J.J.7
  • 39
    • 55749093730 scopus 로고    scopus 로고
    • Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy
    • Sevilla T, Jaijo T, Nauffal D, et al. Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain 2008;131(11):3051-3061.
    • (2008) Brain , vol.131 , Issue.11 , pp. 3051-3061
    • Sevilla, T.1    Jaijo, T.2    Nauffal, D.3
  • 40
    • 0042207076 scopus 로고    scopus 로고
    • Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations
    • De Sandre-Giovannoli A, Chaouch M, Boccaccio I, et al. Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations. J Med Genet 2003;40(7):e87.
    • (2003) J Med Genet , vol.40 , Issue.7
    • De Sandre-Giovannoli, A.1    Chaouch, M.2    Boccaccio, I.3
  • 46
    • 38549101188 scopus 로고    scopus 로고
    • Quality control of mitochondria: Protection against neurodegeneration and ageing
    • DOI 10.1038/sj.emboj.7601972, PII 7601972
    • Tatsuta T, Langer T. Quality control of mitochondria: protection against neurodegeneration and ageing. EMBO J 2008;27(2):306-314. (Pubitemid 351161660)
    • (2008) EMBO Journal , vol.27 , Issue.2 , pp. 306-314
    • Tatsuta, T.1    Langer, T.2
  • 47
    • 37749043369 scopus 로고    scopus 로고
    • Mitochondrial dynamics and peripheral neuropathy
    • Baloh RH. Mitochondrial dynamics and peripheral neuropathy. Neuroscientist 2008;14(1):12-18.
    • (2008) Neuroscientist , vol.14 , Issue.1 , pp. 12-18
    • Baloh, R.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.