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Volumn 74, Issue 3, 2013, Pages 391-396

Animal models and therapeutic prospects for Charcot-Marie-Tooth disease.

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL; CHARCOT-MARIE-TOOTH DISEASE; DISEASE MODEL; GENETICS; HUMAN; MUTATION; TRANSGENIC ANIMAL;

EID: 84891546678     PISSN: None     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.23987     Document Type: Review
Times cited : (29)

References (82)
  • 1
    • 42149182980 scopus 로고    scopus 로고
    • Charcot-MarieTooth disease: A clinico-genetic confrontation
    • Barisic N, Claeys KG, Sirotkovic-Skerlev M, et al. Charcot-MarieTooth disease: a clinico-genetic confrontation. Ann Hum Genet 2008;72(pt 3):416–441.
    • (2008) Ann Hum Genet , vol.72 , pp. 416-441
    • Barisic, N.1    Claeys, K.G.2    Sirotkovic-Skerlev, M.3
  • 2
    • 0033921060 scopus 로고    scopus 로고
    • Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A
    • Krajewski KM, Lewis RA, Fuerst DR, et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000;123(pt 7):1516–1527.
    • (2000) Brain , vol.123 , pp. 1516-1527
    • Krajewski, K.M.1    Lewis, R.A.2    Fuerst, D.R.3
  • 3
    • 79957819197 scopus 로고    scopus 로고
    • Inherited peripheral neuropathies: A myriad of genes and complex phenotypes
    • Baets J, Timmerman V. Inherited peripheral neuropathies: a myriad of genes and complex phenotypes. Brain 2011;134(pt 6): 1587–1590.
    • (2011) Brain , vol.134 , pp. 1587-1590
    • Baets, J.1    Timmerman, V.2
  • 5
    • 0025998134 scopus 로고
    • Population frequencies of inherited neuromuscular diseases—a world survey
    • Emery AE. Population frequencies of inherited neuromuscular diseases—a world survey. Neuromuscul Disord 1991;1:19–29.
    • (1991) Neuromuscul Disord , vol.1 , pp. 19-29
    • Emery, A.E.1
  • 6
    • 33748488890 scopus 로고    scopus 로고
    • Night splinting does not increase ankle range of motion in people with Charcot-Marie-Tooth disease: A randomised, cross-over trial
    • Refshauge KM, Raymond J, Nicholson G, van den Dolder PA. Night splinting does not increase ankle range of motion in people with Charcot-Marie-Tooth disease: a randomised, cross-over trial. Aust J Physiother 2006;52:193–199.
    • (2006) Aust J Physiother , vol.52 , pp. 193-199
    • Refshauge, K.M.1    Raymond, J.2    Nicholson, G.3    van den Dolder, P.A.4
  • 7
    • 0024584005 scopus 로고
    • Long-term results of triple arthrodesis in Charcot-Marie-Tooth disease
    • Wetmore RS, Drennan JC. Long-term results of triple arthrodesis in Charcot-Marie-Tooth disease. J Bone Joint Surg Am 1989;71: 417–422.
    • (1989) J Bone Joint Surg Am , vol.71 , pp. 417-422
    • Wetmore, R.S.1    Drennan, J.C.2
  • 8
    • 0032860194 scopus 로고    scopus 로고
    • Triple arthrodesis: Twenty-five and forty-four-year average follow-up of the same patients
    • Saltzman CL, Fehrle MJ, Cooper RR, et al. Triple arthrodesis: twenty-five and forty-four-year average follow-up of the same patients. J Bone Joint Surg Am 1999;81:1391–1402.
    • (1999) J Bone Joint Surg Am , vol.81 , pp. 1391-1402
    • Saltzman, C.L.1    Fehrle, M.J.2    Cooper, R.R.3
  • 9
    • 67650045535 scopus 로고    scopus 로고
    • PMP22 expression in dermal nerve myelin from patients with CMT1A
    • Katona I, Wu X, Feely SM, et al. PMP22 expression in dermal nerve myelin from patients with CMT1A. Brain 2009;132(pt 7): 1734–1740.
    • (2009) Brain , vol.132 , pp. 1734-1740
    • Katona, I.1    Wu, X.2    Feely, S.M.3
  • 10
    • 0036788455 scopus 로고    scopus 로고
    • PMP22 overexpression causes dysmyelination in mice
    • Robaglia-Schlupp A, Pizant J, Norreel JC, et al. PMP22 overexpression causes dysmyelination in mice. Brain 2002;125(pt 10): 2213–2221.
    • (2002) Brain , vol.125 , pp. 2213-2221
    • Robaglia-Schlupp, A.1    Pizant, J.2    Norreel, J.C.3
  • 11
    • 79955524913 scopus 로고    scopus 로고
    • Myelin and axon pathology in a long-term study of PMP22-overexpressing mice
    • Verhamme C, King RH, ten Asbroek AL, et al. Myelin and axon pathology in a long-term study of PMP22-overexpressing mice. J Neuropathol Exp Neurol 2011;70:386–398.
    • (2011) J Neuropathol Exp Neurol , vol.70 , pp. 386-398
    • Verhamme, C.1    King, R.H.2    Ten Asbroek, A.L.3
  • 12
    • 0031944444 scopus 로고    scopus 로고
    • Expression pattern of the peripheral myelin protein 22kDa (PMP22) in neural and non-neural tissue types of adult wildtype and Trembler mice—a comparative study
    • Rautenstrauss B, Zechner U, Hameister H, et al. Expression pattern of the peripheral myelin protein 22kDa (PMP22) in neural and non-neural tissue types of adult wildtype and Trembler mice—a comparative study. J Peripher Nerv Syst 1998;3:117–124.
    • (1998) J Peripher Nerv Syst , vol.3 , pp. 117-124
    • Rautenstrauss, B.1    Zechner, U.2    Hameister, H.3
  • 13
    • 0033554290 scopus 로고    scopus 로고
    • The “CMT rat”: Peripheral neuropathy and dysmyelination caused by transgenic overexpression of PMP22
    • Niemann S, Sereda MW, Rossner M, et al. The “CMT rat”: peripheral neuropathy and dysmyelination caused by transgenic overexpression of PMP22. Ann N Y Acad Sci 1999;883:254–261.
    • (1999) Ann N Y Acad Sci , vol.883 , pp. 254-261
    • Niemann, S.1    Sereda, M.W.2    Rossner, M.3
  • 14
    • 0026605507 scopus 로고
    • Trembler mouse carries a point mutation in a myelin gene
    • Suter U, Welcher AA, Ozcelik T, et al. Trembler mouse carries a point mutation in a myelin gene. Nature 1992;356:241–244.
    • (1992) Nature , vol.356 , pp. 241-244
    • Suter, U.1    Welcher, A.A.2    Ozcelik, T.3
  • 15
    • 0026554289 scopus 로고
    • A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse
    • Suter U, Moskow JJ, Welcher AA, et al. A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. Proc Natl Acad Sci U S A 1992;89:4382–4386.
    • (1992) Proc Natl Acad Sci U S A , vol.89 , pp. 4382-4386
    • Suter, U.1    Moskow, J.J.2    Welcher, A.A.3
  • 16
    • 84874981890 scopus 로고    scopus 로고
    • Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of TremblerJ mouse
    • Madrid RE, Lofgren A, Baets J, Timmerman V. Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of TremblerJ mouse. Neuromuscul Disord 2013;23:345–348.
    • (2013) Neuromuscul Disord , vol.23 , pp. 345-348
    • Madrid, R.E.1    Lofgren, A.2    Baets, J.3    Timmerman, V.4
  • 17
    • 0032894049 scopus 로고    scopus 로고
    • Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies
    • Naef R, Suter U. Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies. Neurobiol Dis 1999;6:1–14.
    • (1999) Neurobiol Dis , vol.6 , pp. 1-14
    • Naef, R.1    Suter, U.2
  • 18
    • 0034523142 scopus 로고    scopus 로고
    • PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells
    • Colby J, Nicholson R, Dickson KM, et al. PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells. Neurobiol Dis 2000;7(6 pt B):561–573.
    • (2000) Neurobiol Dis , vol.7 , Issue.6 , pp. 561-573
    • Colby, J.1    Nicholson, R.2    Dickson, K.M.3
  • 19
    • 0037039362 scopus 로고    scopus 로고
    • Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22
    • Tobler AR, Liu N, Mueller L, Shooter EM. Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22. Proc Natl Acad Sci U S A 2002;99:483–488.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 483-488
    • Tobler, A.R.1    Liu, N.2    Mueller, L.3    Shooter, E.M.4
  • 20
    • 0347185347 scopus 로고    scopus 로고
    • Therapeutic administration of progesterone antagonist in a model of CharcotMarie-Tooth disease (CMT-1A)
    • Sereda MW, Meyer zu Horste G, Suter U, et al. Therapeutic administration of progesterone antagonist in a model of CharcotMarie-Tooth disease (CMT-1A). Nat Med 2003;9:1533–1537.
    • (2003) Nat Med , vol.9 , pp. 1533-1537
    • Sereda, M.W.1    Meyer Zu Horste, G.2    Suter, U.3
  • 21
    • 1942422646 scopus 로고    scopus 로고
    • Ascorbic acid treatment corrects the phenotype of a mouse model of CharcotMarie-Tooth disease
    • Passage E, Norreel JC, Noack-Fraissignes P, et al. Ascorbic acid treatment corrects the phenotype of a mouse model of CharcotMarie-Tooth disease. Nat Med 2004;10:396–401.
    • (2004) Nat Med , vol.10 , pp. 396-401
    • Passage, E.1    Norreel, J.C.2    Noack-Fraissignes, P.3
  • 22
    • 84861812079 scopus 로고    scopus 로고
    • Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease
    • Fledrich R, Stassart RM, Sereda MW. Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease. Br Med Bull 2012;102: 89–113.
    • (2012) Br Med Bull , vol.102 , pp. 89-113
    • Fledrich, R.1    Stassart, R.M.2    Sereda, M.W.3
  • 23
    • 24644446342 scopus 로고    scopus 로고
    • NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients
    • Sahenk Z, Nagaraja HN, McCracken BS, et al. NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients. Neurology 2005;65:681–689.
    • (2005) Neurology , vol.65 , pp. 681-689
    • Sahenk, Z.1    Nagaraja, H.N.2    McCracken, B.S.3
  • 24
    • 34548219064 scopus 로고    scopus 로고
    • Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: A potential therapy for inherited neuropathy
    • Khajavi M, Shiga K, Wiszniewski W, et al. Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet 2007;81:438–453.
    • (2007) Am J Hum Genet , vol.81 , pp. 438-453
    • Khajavi, M.1    Shiga, K.2    Wiszniewski, W.3
  • 25
    • 33846798265 scopus 로고    scopus 로고
    • Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy
    • Meyer zu Horste G, Prukop T, Liebetanz D, et al. Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy. Ann Neurol 2007;61: 61–72.
    • (2007) Ann Neurol , vol.61 , pp. 61-72
    • Meyer Zu Horste, G.1    Prukop, T.2    Liebetanz, D.3
  • 26
    • 0028014579 scopus 로고
    • Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
    • Fairweather N, Bell C, Cochrane S, et al. Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Mol Genet 1994;3:29–34.
    • (1994) Hum Mol Genet , vol.3 , pp. 29-34
    • Fairweather, N.1    Bell, C.2    Cochrane, S.3
  • 27
    • 0034577431 scopus 로고    scopus 로고
    • Clinical and pathological observations in men lacking the gap junction protein connexin 32
    • Hahn AF, Ainsworth PJ, Naus CC, et al. Clinical and pathological observations in men lacking the gap junction protein connexin 32. Muscle Nerve Suppl 2000;9:S39–S48.
    • (2000) Muscle Nerve Suppl , vol.9 , pp. S39-S48
    • Hahn, A.F.1    Ainsworth, P.J.2    Naus, C.C.3
  • 28
    • 0034784158 scopus 로고    scopus 로고
    • Clinical, electrophysiological and molecular genetic characteristics of 93 patients with Xlinked Charcot-Marie-Tooth disease
    • Dubourg O, Tardieu S, Birouk N, et al. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with Xlinked Charcot-Marie-Tooth disease. Brain 2001;124(pt 10):1958– 1967.
    • (2001) Brain , vol.124 , pp. 1958-1967
    • Dubourg, O.1    Tardieu, S.2    Birouk, N.3
  • 29
    • 33745246046 scopus 로고    scopus 로고
    • Molecular genetics of X-linked CharcotMarie-Tooth disease
    • Kleopa KA, Scherer SS. Molecular genetics of X-linked CharcotMarie-Tooth disease. Neuromolecular Med 2006;8:107–122.
    • (2006) Neuromolecular Med , vol.8 , pp. 107-122
    • Kleopa, K.A.1    Scherer, S.S.2
  • 30
    • 13844255953 scopus 로고    scopus 로고
    • Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice
    • Scherer SS, Xu YT, Messing A, et al. Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice. J Neurosci 2005;25:1550–1559.
    • (2005) J Neurosci , vol.25 , pp. 1550-1559
    • Scherer, S.S.1    Xu, Y.T.2    Messing, A.3
  • 31
    • 33745822464 scopus 로고    scopus 로고
    • The effects of a dominant connexin32 mutant in myelinating Schwann cells
    • Jeng LJ, Balice-Gordon RJ, Messing A, et al. The effects of a dominant connexin32 mutant in myelinating Schwann cells. Mol Cell Neurosci 2006;32:283–298.
    • (2006) Mol Cell Neurosci , vol.32 , pp. 283-298
    • Jeng, L.J.1    Balice-Gordon, R.J.2    Messing, A.3
  • 32
    • 10644221249 scopus 로고    scopus 로고
    • Neuroprotective effect of the immune system in a mouse model of severe dysmyelinating hereditary neuropathy: Enhanced axonal degeneration following disruption of the RAG-1 gene
    • Berghoff M, Samsam M, Muller M, et al. Neuroprotective effect of the immune system in a mouse model of severe dysmyelinating hereditary neuropathy: enhanced axonal degeneration following disruption of the RAG-1 gene. Mol Cell Neurosci 2005;28:118– 127.
    • (2005) Mol Cell Neurosci , vol.28 , pp. 118-127
    • Berghoff, M.1    Samsam, M.2    Muller, M.3
  • 33
    • 84856746699 scopus 로고    scopus 로고
    • Colony-stimulating factor-1 mediates macrophage-related neural damage in a model for CharcotMarie-Tooth disease type 1X
    • Groh J, Weis J, Zieger H, et al. Colony-stimulating factor-1 mediates macrophage-related neural damage in a model for CharcotMarie-Tooth disease type 1X. Brain 2012;135(pt 1):88–104.
    • (2012) Brain , vol.135 , pp. 88-104
    • Groh, J.1    Weis, J.2    Zieger, H.3
  • 34
    • 77956098322 scopus 로고    scopus 로고
    • Attenuation of MCP-1=CCL2 expression ameliorates neuropathy in a mouse model for CharcotMarie-Tooth 1X
    • Groh J, Heinl K, Kohl B, et al. Attenuation of MCP-1=CCL2 expression ameliorates neuropathy in a mouse model for CharcotMarie-Tooth 1X. Hum Mol Genet 2010;19:3530–3543.
    • (2010) Hum Mol Genet , vol.19 , pp. 3530-3543
    • Groh, J.1    Heinl, K.2    Kohl, B.3
  • 35
    • 33644523786 scopus 로고    scopus 로고
    • Peripheral neuropathies caused by mutations in the myelin protein zero
    • Shy ME. Peripheral neuropathies caused by mutations in the myelin protein zero. J Neurol Sci 2006;242:55–66.
    • (2006) J Neurol Sci , vol.242 , pp. 55-66
    • Shy, M.E.1
  • 36
    • 16044362374 scopus 로고    scopus 로고
    • Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
    • Warner LE, Hilz MJ, Appel SH, et al. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 1996;17:451–460.
    • (1996) Neuron , vol.17 , pp. 451-460
    • Warner, L.E.1    Hilz, M.J.2    Appel, S.H.3
  • 37
    • 0032949034 scopus 로고    scopus 로고
    • The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
    • De Jonghe P, Timmerman V, Ceuterick C, et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 1999;122(pt 2):281–290.
    • (1999) Brain , vol.122 , pp. 281-290
    • de Jonghe, P.1    Timmerman, V.2    Ceuterick, C.3
  • 38
    • 12144285746 scopus 로고    scopus 로고
    • Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
    • Inoue K, Khajavi M, Ohyama T, et al. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet 2004;36:361–369.
    • (2004) Nat Genet , vol.36 , pp. 361-369
    • Inoue, K.1    Khajavi, M.2    Ohyama, T.3
  • 39
    • 27244435246 scopus 로고    scopus 로고
    • Curcumin treatment abrogates endoplasmic reticulum retention and aggregationinduced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants
    • Khajavi M, Inoue K, Wiszniewski W, et al. Curcumin treatment abrogates endoplasmic reticulum retention and aggregationinduced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am J Hum Genet 2005;77:841– 850.
    • (2005) Am J Hum Genet , vol.77 , pp. 841-850
    • Khajavi, M.1    Inoue, K.2    Wiszniewski, W.3
  • 40
    • 0027221142 scopus 로고
    • Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B
    • Kulkens T, Bolhuis PA, Wolterman RA, et al. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Nat Genet 1993;5:35–39.
    • (1993) Nat Genet , vol.5 , pp. 35-39
    • Kulkens, T.1    Bolhuis, P.A.2    Wolterman, R.A.3
  • 41
    • 33645636345 scopus 로고    scopus 로고
    • Different intracellular pathomechanisms produce diverse myelin protein zero neuropathies in transgenic mice
    • Wrabetz L, D’Antonio M, Pennuto M, et al. Different intracellular pathomechanisms produce diverse myelin protein zero neuropathies in transgenic mice. J Neurosci 2006;26:2358–2368.
    • (2006) J Neurosci , vol.26 , pp. 2358-2368
    • Wrabetz, L.1    D’Antonio, M.2    Pennuto, M.3
  • 42
    • 79961163495 scopus 로고    scopus 로고
    • Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2
    • Ajroud-Driss S, Deng HX, Siddique T. Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2. Curr Neurol Neurosci Rep 2011;11:262–273.
    • (2011) Curr Neurol Neurosci Rep , vol.11 , pp. 262-273
    • Ajroud-Driss, S.1    Deng, H.X.2    Siddique, T.3
  • 43
    • 0028116467 scopus 로고
    • A mutant neurofilament subunit causes massive, selective motor neuron death: Implications for the pathogenesis of human motor neuron disease
    • Lee MK, Marszalek JR, Cleveland DW. A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease. Neuron 1994;13:975–988.
    • (1994) Neuron , vol.13 , pp. 975-988
    • Lee, M.K.1    Marszalek, J.R.2    Cleveland, D.W.3
  • 44
    • 79961168180 scopus 로고    scopus 로고
    • HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease
    • d’Ydewalle C, Krishnan J, Chiheb DM, et al. HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease. Nat Med 2011;17:968–974.
    • (2011) Nat Med , vol.17 , pp. 968-974
    • D’Ydewalle, C.1    Krishnan, J.2    Chiheb, D.M.3
  • 46
    • 84864486839 scopus 로고    scopus 로고
    • The family of mammalian small heat shock proteins (HSPBs): Implications in protein deposit diseases and motor neuropathies
    • Boncoraglio A, Minoia M, Carra S. The family of mammalian small heat shock proteins (HSPBs): implications in protein deposit diseases and motor neuropathies. Int J Biochem Cell Biol 2012;44: 1657–1669.
    • (2012) Int J Biochem Cell Biol , vol.44 , pp. 1657-1669
    • Boncoraglio, A.1    Minoia, M.2    Carra, S.3
  • 47
    • 84864492897 scopus 로고    scopus 로고
    • Small heat shock proteins HSP27 (HspB1), alphaB-crystallin (HspB5) and HSP22 (HspB8) as regulators of cell death
    • Acunzo J, Katsogiannou M, Rocchi P. Small heat shock proteins HSP27 (HspB1), alphaB-crystallin (HspB5) and HSP22 (HspB8) as regulators of cell death. Int J Biochem Cell Biol 2012;44:1622–1631.
    • (2012) Int J Biochem Cell Biol , vol.44 , pp. 1622-1631
    • Acunzo, J.1    Katsogiannou, M.2    Rocchi, P.3
  • 48
    • 84864488251 scopus 로고    scopus 로고
    • Small heat shock proteins and the cytoskeleton: An essential interplay for cell integrity?
    • Wettstein G, Bellaye PS, Micheau O, Bonniaud P. Small heat shock proteins and the cytoskeleton: an essential interplay for cell integrity? Int J Biochem Cell Biol 2012;44:1680–1686.
    • (2012) Int J Biochem Cell Biol , vol.44 , pp. 1680-1686
    • Wettstein, G.1    Bellaye, P.S.2    Micheau, O.3    Bonniaud, P.4
  • 49
    • 84864437102 scopus 로고    scopus 로고
    • Small heat shock proteins in redox metabolism: Implications for cardiovascular diseases
    • Christians ES, Ishiwata T, Benjamin IJ. Small heat shock proteins in redox metabolism: implications for cardiovascular diseases. Int J Biochem Cell Biol 2012;44:1632–1645.
    • (2012) Int J Biochem Cell Biol , vol.44 , pp. 1632-1645
    • Christians, E.S.1    Ishiwata, T.2    Benjamin, I.J.3
  • 50
    • 2642539919 scopus 로고    scopus 로고
    • Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
    • Irobi J, Van Impe K, Seeman P, et al. Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet 2004;36:597–601.
    • (2004) Nat Genet , vol.36 , pp. 597-601
    • Irobi, J.1    van Impe, K.2    Seeman, P.3
  • 51
    • 2642563501 scopus 로고    scopus 로고
    • Mutant small heatshock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
    • Evgrafov OV, Mersiyanova I, Irobi J, et al. Mutant small heatshock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet 2004;36:602–606.
    • (2004) Nat Genet , vol.36 , pp. 602-606
    • Evgrafov, O.V.1    Mersiyanova, I.2    Irobi, J.3
  • 52
    • 76649105116 scopus 로고    scopus 로고
    • Mutant small heat shock protein B3 causes motor neuropathy: Utility of a candidate gene approach
    • Kolb SJ, Snyder PJ, Poi EJ, et al. Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Neurology 2010;74:502–506.
    • (2010) Neurology , vol.74 , pp. 502-506
    • Kolb, S.J.1    Snyder, P.J.2    Poi, E.J.3
  • 54
    • 85037620119 scopus 로고    scopus 로고
    • Molecular biology of small heat shock proteins associated with peripheral neuropathies
    • Holmgren A, Bouhy D, Timmerman V. Molecular biology of small heat shock proteins associated with peripheral neuropathies. eLS 2012; [doi: 10.1002/9780470015902.a0024294]
    • (2012) Els
    • Holmgren, A.1    Bouhy, D.2    Timmerman, V.3
  • 55
    • 83755173702 scopus 로고    scopus 로고
    • HSPB1 and HSPB8 in inherited neuropathies: Study of an Italian cohort of dHMN and CMT2 patients
    • Capponi S, Geroldi A, Fossa P, et al. HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients. J Peripher Nerv Syst 2011;16:287–294.
    • (2011) J Peripher Nerv Syst , vol.16 , pp. 287-294
    • Capponi, S.1    Geroldi, A.2    Fossa, P.3
  • 56
    • 58149243285 scopus 로고    scopus 로고
    • Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN=CMT type 2
    • Houlden H, Laura M, Wavrant-De Vrieze F, et al. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN=CMT type 2. Neurology 2008;71:1660–1668.
    • (2008) Neurology , vol.71 , pp. 1660-1668
    • Houlden, H.1    Laura, M.2    Wavrant-De Vrieze, F.3
  • 57
    • 77951213476 scopus 로고    scopus 로고
    • Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy
    • Almeida-Souza L, Goethals S, de Winter V, et al. Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy. J Biol Chem 2010;285:12778– 12786.
    • (2010) J Biol Chem , vol.285 , pp. 12778-12786
    • Almeida-Souza, L.1    Goethals, S.2    de Winter, V.3
  • 58
    • 80054947861 scopus 로고    scopus 로고
    • Small heatshock protein HSPB1 mutants stabilize microtubules in CharcotMarie-Tooth neuropathy
    • Almeida-Souza L, Asselbergh B, d’Ydewalle C, et al. Small heatshock protein HSPB1 mutants stabilize microtubules in CharcotMarie-Tooth neuropathy. J Neurosci 2011;31:15320–15328.
    • (2011) J Neurosci , vol.31 , pp. 15320-15328
    • Almeida-Souza, L.1    Asselbergh, B.2    D’Ydewalle, C.3
  • 59
    • 45949131693 scopus 로고    scopus 로고
    • Chemotherapy-induced peripheral neuropathy: Prevention and treatment strategies
    • Wolf S, Barton D, Kottschade L, et al. Chemotherapy-induced peripheral neuropathy: prevention and treatment strategies. Eur J Cancer 2008;44:1507–1515.
    • (2008) Eur J Cancer , vol.44 , pp. 1507-1515
    • Wolf, S.1    Barton, D.2    Kottschade, L.3
  • 60
    • 33645736326 scopus 로고    scopus 로고
    • Peripheral neuropathy induced by microtubulestabilizing agents
    • Lee JJ, Swain SM. Peripheral neuropathy induced by microtubulestabilizing agents. J Clin Oncol 2006;24:1633–1642.
    • (2006) J Clin Oncol , vol.24 , pp. 1633-1642
    • Lee, J.J.1    Swain, S.M.2
  • 61
    • 84992240333 scopus 로고    scopus 로고
    • Microtubule dynamics in the peripheral nervous system: A matter of balance
    • Almeida-Souza L, Timmerman V, Janssens S. Microtubule dynamics in the peripheral nervous system: a matter of balance. Bioarchitecture 2011;1:267–270.
    • (2011) Bioarchitecture , vol.1 , pp. 267-270
    • Almeida-Souza, L.1    Timmerman, V.2    Janssens, S.3
  • 62
    • 34547697173 scopus 로고    scopus 로고
    • RNA-binding proteins hnRNP A2=B1 and CUGBP1 suppress fragile X CGG premutation repeatinduced neurodegeneration in a Drosophila model of FXTAS
    • Sofola OA, Jin P, Qin Y, et al. RNA-binding proteins hnRNP A2=B1 and CUGBP1 suppress fragile X CGG premutation repeatinduced neurodegeneration in a Drosophila model of FXTAS. Neuron 2007;55:565–571.
    • (2007) Neuron , vol.55 , pp. 565-571
    • Sofola, O.A.1    Jin, P.2    Qin, Y.3
  • 63
    • 79955749505 scopus 로고    scopus 로고
    • Human disease models in Drosophila melanogaster and the role of the fly in therapeutic drug discovery
    • Pandey UB, Nichols CD. Human disease models in Drosophila melanogaster and the role of the fly in therapeutic drug discovery. Pharmacol Rev 2011;63:411–436.
    • (2011) Pharmacol Rev , vol.63 , pp. 411-436
    • Pandey, U.B.1    Nichols, C.D.2
  • 64
    • 67650882733 scopus 로고    scopus 로고
    • Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy
    • Storkebaum E, Leitao-Goncalves R, Godenschwege T, et al. Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. Proc Natl Acad Sci U S A 2009;106:11782–11787.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 11782-11787
    • Storkebaum, E.1    Leitao-Goncalves, R.2    Godenschwege, T.3
  • 65
    • 84871608495 scopus 로고    scopus 로고
    • A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo
    • Vester A, Velez-Ruiz G, McLaughlin HM, et al. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat 2013;34:191–199.
    • (2013) Hum Mutat , vol.34 , pp. 191-199
    • Vester, A.1    Velez-Ruiz, G.2    McLaughlin, H.M.3
  • 66
    • 32044462033 scopus 로고    scopus 로고
    • Glial cell biology in Drosophila and vertebrates
    • Freeman MR, Doherty J. Glial cell biology in Drosophila and vertebrates. Trends Neurosci 2006;29:82–90.
    • (2006) Trends Neurosci , vol.29 , pp. 82-90
    • Freeman, M.R.1    Doherty, J.2
  • 67
    • 80455173951 scopus 로고    scopus 로고
    • Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders
    • Bevan AK, Duque S, Foust KD, et al. Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders. Mol Ther 2011;19:1971–1980.
    • (2011) Mol Ther , vol.19 , pp. 1971-1980
    • Bevan, A.K.1    Duque, S.2    Foust, K.D.3
  • 68
    • 53049109883 scopus 로고    scopus 로고
    • Experimental therapeutics in hereditary neuropathies: The past, the present, and the future
    • Herrmann DN. Experimental therapeutics in hereditary neuropathies: the past, the present, and the future. Neurotherapeutics 2008;5:507–515.
    • (2008) Neurotherapeutics , vol.5 , pp. 507-515
    • Herrmann, D.N.1
  • 69
    • 84877106082 scopus 로고    scopus 로고
    • Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation
    • Mahammad S, Murthy SN, Didonna A, et al. Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. J Clin Invest 2013;123:1964–1975.
    • (2013) J Clin Invest , vol.123 , pp. 1964-1975
    • Mahammad, S.1    Murthy, S.N.2    Didonna, A.3
  • 70
    • 84879607430 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments
    • Holmgren A, Bouhy D, De Winter V, et al. Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments. Acta Neuropathol 2013;126:93–108.
    • (2013) Acta Neuropathol , vol.126 , pp. 93-108
    • Holmgren, A.1    Bouhy, D.2    de Winter, V.3
  • 72
    • 0026580004 scopus 로고
    • Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells
    • de Waegh SM, Lee VM, Brady ST. Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells. Cell 1992;68:451–463.
    • (1992) Cell , vol.68 , pp. 451-463
    • de Waegh, S.M.1    Lee, V.M.2    Brady, S.T.3
  • 73
    • 80054037232 scopus 로고    scopus 로고
    • Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways
    • Lee SM, Olzmann JA, Chin LS, Li L. Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways. J Cell Sci 2011;124(pt 19):3319–3331.
    • (2011) J Cell Sci , vol.124 , pp. 3319-3331
    • Lee, S.M.1    Olzmann, J.A.2    Chin, L.S.3    Li, L.4
  • 74
    • 82955187310 scopus 로고    scopus 로고
    • HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes
    • Kwok AS, Phadwal K, Turner BJ, et al. HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes. J Neurochem 2011;119:1155–1161.
    • (2011) J Neurochem , vol.119 , pp. 1155-1161
    • Kwok, A.S.1    Phadwal, K.2    Turner, B.J.3
  • 75
    • 84860915944 scopus 로고    scopus 로고
    • A centronuclear myopathy—dynamin 2 mutation impairs autophagy in mice
    • Durieux AC, Vassilopoulos S, Laine J, et al. A centronuclear myopathy—dynamin 2 mutation impairs autophagy in mice. Traffic 2012;13:869–879.
    • (2012) Traffic , vol.13 , pp. 869-879
    • Durieux, A.C.1    Vassilopoulos, S.2    Laine, J.3
  • 76
    • 84857708526 scopus 로고    scopus 로고
    • Normal role of the lowmolecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease
    • Gentil BJ, Minotti S, Beange M, et al. Normal role of the lowmolecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease. FASEB J 2012;26: 1194–1203.
    • (2012) FASEB J , vol.26 , pp. 1194-1203
    • Gentil, B.J.1    Minotti, S.2    Beange, M.3
  • 77
    • 83455213481 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential
    • Noack R, Frede S, Albrecht P, et al. Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential. Hum Mol Genet 2012;21:150–162.
    • (2012) Hum Mol Genet , vol.21 , pp. 150-162
    • Noack, R.1    Frede, S.2    Albrecht, P.3
  • 78
    • 77949801029 scopus 로고    scopus 로고
    • Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro=Milton complex
    • Misko A, Jiang S, Wegorzewska I, et al. Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro=Milton complex. J Neurosci 2010;30:4232–4240.
    • (2010) J Neurosci , vol.30 , pp. 4232-4240
    • Misko, A.1    Jiang, S.2    Wegorzewska, I.3
  • 79
    • 17744376804 scopus 로고    scopus 로고
    • GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria
    • 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: 1087–1094.
    • (2005) Hum Mol Genet , vol.14 , pp. 1087-1094
    • Pedrola, L.1    Espert, A.2    Wu, X.3
  • 80
    • 84877633295 scopus 로고    scopus 로고
    • Silencing of the CharcotMarie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca homeostasis by reducing store-operated Ca entry
    • Pla-Martin D, Rueda CB, Estela A, et al. Silencing of the CharcotMarie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca homeostasis by reducing store-operated Ca entry. Neurobiol Dis 2013;55:140–151.
    • (2013) Neurobiol Dis , vol.55 , pp. 140-151
    • Pla-Martin, D.1    Rueda, C.B.2    Estela, A.3
  • 81
    • 0025868571 scopus 로고
    • DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    • Lupski JR, de Oca-Luna RM, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219–232.
    • (1991) Cell , vol.66 , pp. 219-232
    • Lupski, J.R.1    de Oca-Luna, R.M.2    Slaugenhaupt, S.3


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