메뉴 건너뛰기




Volumn 596, Issue , 2015, Pages 14-26

Demyelinating CMT-what's known, what's new and what's in store?

Author keywords

Charcot Marie Tooth disease; Cx32; Demyelinating neuropathies; Inherited neuropathies; MPZ; PMP22; Unfolded protein response

Indexed keywords

CLASSIFICATION; DEMYELINATING DISEASE; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MUTATION; PATHOLOGY;

EID: 84929966254     PISSN: 03043940     EISSN: 18727972     Source Type: Journal    
DOI: 10.1016/j.neulet.2015.01.059     Document Type: Review
Times cited : (47)

References (147)
  • 1
    • 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.
    • (1974) Clin. Genet. , vol.6 , pp. 98
    • Skre, H.1
  • 2
    • 0002896804 scopus 로고
    • Sur une forme particulaire d'atrophie musculaire progressive souvent familial debutant par les pieds et les jamber et atteingnant plus tard les mains
    • Charcot J.M.P. Sur une forme particulaire d'atrophie musculaire progressive souvent familial debutant par les pieds et les jamber et atteingnant plus tard les mains. Rev. Med. 1886, 6:97.
    • (1886) Rev. Med. , vol.6 , pp. 97
    • Charcot, J.M.P.1
  • 4
    • 0018949405 scopus 로고
    • Genetic aspects of hereditary motor and sensory neuropathy (types I and II)
    • Harding A.E., Thomas P.K. Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J. Med. Genet. 1980, 17:329.
    • (1980) J. Med. Genet. , vol.17 , pp. 329
    • Harding, A.E.1    Thomas, P.K.2
  • 5
    • 0018942439 scopus 로고
    • The clinical features of hereditary motor and sensory neuropathy types I and II
    • Harding A.E., Thomas P.K. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980, 103:259.
    • (1980) Brain , vol.103 , pp. 259
    • Harding, A.E.1    Thomas, P.K.2
  • 11
    • 0030765350 scopus 로고    scopus 로고
    • The biology and pathobiology of Schwann cells
    • Scherer S.S. The biology and pathobiology of Schwann cells. Curr. Opin. Neurol. 1997, 10:386-397.
    • (1997) Curr. Opin. Neurol. , vol.10 , pp. 386-397
    • Scherer, S.S.1
  • 12
    • 0029971794 scopus 로고    scopus 로고
    • Schwann cell development, differentiation and myelination
    • Mirsky R., Jessen K.R. Schwann cell development, differentiation and myelination. Curr. Opin. Neurobiol. 1996, 6:89-96.
    • (1996) Curr. Opin. Neurobiol. , vol.6 , pp. 89-96
    • Mirsky, R.1    Jessen, K.R.2
  • 14
    • 25144470229 scopus 로고    scopus 로고
    • The origin and development of glial cells in peripheral nerves
    • Jessen K.R., Mirsky R. The origin and development of glial cells in peripheral nerves. Nat. Rev. Neurosci. 2005, 6:671-682.
    • (2005) Nat. Rev. Neurosci. , vol.6 , pp. 671-682
    • Jessen, K.R.1    Mirsky, R.2
  • 16
    • 61549136754 scopus 로고    scopus 로고
    • Neuregulin-1, a key axonal signal that drives Schwann cell growth and differentiation
    • Birchmeier C., Nave K.A. Neuregulin-1, a key axonal signal that drives Schwann cell growth and differentiation. GLIA 2008, 56:1491-1497.
    • (2008) GLIA , vol.56 , pp. 1491-1497
    • Birchmeier, C.1    Nave, K.A.2
  • 18
    • 0034610999 scopus 로고    scopus 로고
    • A dual role of erbB2 in myelination and in expansion of the schwann cell precursor pool
    • Garratt A.N., Voiculescu O., Topilko P., Charnay P., Birchmeier C. A dual role of erbB2 in myelination and in expansion of the schwann cell precursor pool. J. Cell Biol. 2000, 148:1035-1046.
    • (2000) J. Cell Biol. , vol.148 , pp. 1035-1046
    • Garratt, A.N.1    Voiculescu, O.2    Topilko, P.3    Charnay, P.4    Birchmeier, C.5
  • 19
    • 0034981923 scopus 로고    scopus 로고
    • EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression
    • Nagarajan R., Svaren J., Le N., Araki T., Watson M., Milbrandt J. EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression. Neuron 2001, 30:355-368.
    • (2001) Neuron , vol.30 , pp. 355-368
    • Nagarajan, R.1    Svaren, J.2    Le, N.3    Araki, T.4    Watson, M.5    Milbrandt, J.6
  • 21
    • 0037097611 scopus 로고    scopus 로고
    • Myelin phagocytosis by macrophages and nonmacrophages during Wallerian degeneration
    • Hirata K., Kawabuchi M. Myelin phagocytosis by macrophages and nonmacrophages during Wallerian degeneration. Microsc. Res. Tech. 2002, 57:541-547.
    • (2002) Microsc. Res. Tech. , vol.57 , pp. 541-547
    • Hirata, K.1    Kawabuchi, M.2
  • 24
    • 0034065232 scopus 로고    scopus 로고
    • On the molecular architecture of myelinated fibers
    • Arroyo E.J., Scherer S.S. On the molecular architecture of myelinated fibers. Histochem. Cell Biol. 2000, 113:1-18.
    • (2000) Histochem. Cell Biol. , vol.113 , pp. 1-18
    • Arroyo, E.J.1    Scherer, S.S.2
  • 25
    • 0141987863 scopus 로고    scopus 로고
    • Polarized domains of myelinated axons
    • Salzer J.L. Polarized domains of myelinated axons. Neuron 2003, 40:297-318.
    • (2003) Neuron , vol.40 , pp. 297-318
    • Salzer, J.L.1
  • 26
    • 84922324293 scopus 로고    scopus 로고
    • Hereditary motor and sensory neuropathies: understanding molecular pathogenesis could lead to future treatment strategies
    • Jerath N.U., Shy M.E. Hereditary motor and sensory neuropathies: understanding molecular pathogenesis could lead to future treatment strategies. Biochim. Biophys. Acta 2015, 1852(April (4)):667-678.
    • (2015) Biochim. Biophys. Acta , vol.1852 , Issue.APRIL 4 , pp. 667-678
    • Jerath, N.U.1    Shy, M.E.2
  • 27
    • 84882866259 scopus 로고    scopus 로고
    • The hereditary motor and sensory neuropathies: an overview of the clinical, genetic, electrophysiologic and pathlogic features
    • WB Saunders, Philadelphia
    • Shy M., Lupski J.R., Chance P.F., Klein C.J., Dyck P. The hereditary motor and sensory neuropathies: an overview of the clinical, genetic, electrophysiologic and pathlogic features. Peripheral Neuropathy 2005, 2:1623-1658. WB Saunders, Philadelphia.
    • (2005) Peripheral Neuropathy , vol.2 , pp. 1623-1658
    • Shy, M.1    Lupski, J.R.2    Chance, P.F.3    Klein, C.J.4    Dyck, P.5
  • 28
    • 33745268197 scopus 로고    scopus 로고
    • Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease
    • Niemann A., Berger P., Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. NeuroMol. Med. 2006, 8:217.
    • (2006) NeuroMol. Med. , vol.8 , pp. 217
    • Niemann, A.1    Berger, P.2    Suter, U.3
  • 30
    • 0030030169 scopus 로고    scopus 로고
    • Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin
    • Blair I.P., Nash J., Gordon M.J., Nicholson G.A. Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. Am. J. Hum. Genet. 1996, 58:472.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 472
    • Blair, I.P.1    Nash, J.2    Gordon, M.J.3    Nicholson, G.A.4
  • 35
    • 78649421033 scopus 로고    scopus 로고
    • Pathological adaptive responses of Schwann cells to endoplasmic reticulum stress in bortezomib-induced peripheral neuropathy
    • Shin Y.K., Jang S.Y., Lee H.K., Jung J., Suh D.J., Seo S.Y., Park H.T. Pathological adaptive responses of Schwann cells to endoplasmic reticulum stress in bortezomib-induced peripheral neuropathy. Glia 2011, 58:1961-1976.
    • (2011) Glia , vol.58 , pp. 1961-1976
    • Shin, Y.K.1    Jang, S.Y.2    Lee, H.K.3    Jung, J.4    Suh, D.J.5    Seo, S.Y.6    Park, H.T.7
  • 37
    • 0025253083 scopus 로고
    • Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction
    • D'Urso D., Brophy P.J., Staugaitis S.M., Gillespie C.S., Frey A.B., Stempak J.G., Colman D.R. Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction. Neuron 1990, 4(3):4449-4460.
    • (1990) Neuron , vol.4 , Issue.3 , pp. 4449-4460
    • D'Urso, D.1    Brophy, P.J.2    Staugaitis, S.M.3    Gillespie, C.S.4    Frey, A.B.5    Stempak, J.G.6    Colman, D.R.7
  • 39
    • 0030246987 scopus 로고    scopus 로고
    • Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin
    • Shapiro L., Doyle J.P., Hensley P., Colman D.R., Hendrickson W.A. Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron 1996, 17:435-449.
    • (1996) Neuron , vol.17 , pp. 435-449
    • Shapiro, L.1    Doyle, J.P.2    Hensley, P.3    Colman, D.R.4    Hendrickson, W.A.5
  • 41
    • 27244435246 scopus 로고    scopus 로고
    • Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants
    • Khajavi M., Inoue K., Wiszniewski W., Ohyama T., Snipes G.J., Lupski J.R. Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced 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    Ohyama, T.4    Snipes, G.J.5    Lupski, J.R.6
  • 44
    • 84883387793 scopus 로고    scopus 로고
    • Targeting the unfolded protein response in disease
    • Hetz C., Chevet E., Harding H.P. Targeting the unfolded protein response in disease. Nat. Rev. Drug Discov. 2013, 12:703-719.
    • (2013) Nat. Rev. Drug Discov. , vol.12 , pp. 703-719
    • Hetz, C.1    Chevet, E.2    Harding, H.P.3
  • 45
    • 79952264011 scopus 로고    scopus 로고
    • Integrating the mechanisms of apoptosis induced by endoplasmic reticulum stress
    • Tabas I., Ron D. Integrating the mechanisms of apoptosis induced by endoplasmic reticulum stress. Nat. Cell Biol. 2011, 13:184-190.
    • (2011) Nat. Cell Biol. , vol.13 , pp. 184-190
    • Tabas, I.1    Ron, D.2
  • 46
    • 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., He F., Shaw C.A., Yan J., Wensel T.G., Snipes G.J., Lupski J.R. 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.
    • (2007) Am. J. Hum. Genet. , vol.81 , pp. 438
    • Khajavi, M.1    Shiga, K.2    Wiszniewski, W.3    He, F.4    Shaw, C.A.5    Yan, J.6    Wensel, T.G.7    Snipes, G.J.8    Lupski, J.R.9
  • 52
    • 0035947778 scopus 로고    scopus 로고
    • Feedback inhibition of the unfolded protein response by GADD34-mediated dephosphorylation of eIF2alpha
    • Novoa I., Zeng H., Harding H.P., Ron D. Feedback inhibition of the unfolded protein response by GADD34-mediated dephosphorylation of eIF2alpha. J. Cell Biol. 2001, 153:1011-1022.
    • (2001) J. Cell Biol. , vol.153 , pp. 1011-1022
    • Novoa, I.1    Zeng, H.2    Harding, H.P.3    Ron, D.4
  • 57
    • 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 S.M., Olzmann J.A., Chin L.S., 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, 124:3319-3331.
    • (2011) J. Cell Sci. , vol.124 , pp. 3319-3331
    • Lee, S.M.1    Olzmann, J.A.2    Chin, L.S.3    Li, L.4
  • 63
    • 14044266360 scopus 로고    scopus 로고
    • Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination
    • Le N., Nagarajan R., Wang J.Y., Araki T., Schmidt R.E., Milbrandt J. Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination. Proc. Natl. Acad. Sci. U. S. A. 2005, 102:2596-2601.
    • (2005) Proc. Natl. Acad. Sci. U. S. A. , vol.102 , pp. 2596-2601
    • Le, N.1    Nagarajan, R.2    Wang, J.Y.3    Araki, T.4    Schmidt, R.E.5    Milbrandt, J.6
  • 64
    • 34247554140 scopus 로고    scopus 로고
    • Neuropathy-associated Egr2 mutants disrupt cooperative activation of myelin protein zero by Egr2 and Sox10
    • LeBlanc S.E., Ward R.M., Svaren J. Neuropathy-associated Egr2 mutants disrupt cooperative activation of myelin protein zero by Egr2 and Sox10. Mol. Cell. Biol. 2007, 27:3521-3529.
    • (2007) Mol. Cell. Biol. , vol.27 , pp. 3521-3529
    • LeBlanc, S.E.1    Ward, R.M.2    Svaren, J.3
  • 65
    • 0032797721 scopus 로고    scopus 로고
    • Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies
    • Warner L.E., Svaren J., Milbrandt J., Lupski J.R. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum. Mol. Genet. 1999, 8:1245-1251.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1245-1251
    • Warner, L.E.1    Svaren, J.2    Milbrandt, J.3    Lupski, J.R.4
  • 72
    • 0036900365 scopus 로고    scopus 로고
    • Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals
    • Yoshihara T., Yamamoto M., Hattori N., Misu K., Mori K., Koike H., Sobue G. Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. J. Peripheral Nerv. Syst. 2002, 7:221.
    • (2002) J. Peripheral Nerv. Syst. , vol.7 , pp. 221
    • Yoshihara, T.1    Yamamoto, M.2    Hattori, N.3    Misu, K.4    Mori, K.5    Koike, H.6    Sobue, G.7
  • 74
    • 0014835861 scopus 로고
    • Axon caliber related to neurofilaments and microtubules in sciatic nerve fibers of rats and mice
    • Friede R.L., Samorajski T. Axon caliber related to neurofilaments and microtubules in sciatic nerve fibers of rats and mice. Anat. Rec. 1970, 167:379.
    • (1970) Anat. Rec. , vol.167 , pp. 379
    • Friede, R.L.1    Samorajski, T.2
  • 75
    • 5444267945 scopus 로고    scopus 로고
    • Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models
    • Perez-Olle R., Jones S.T., Liem R.K. Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models. Hum. Mol. Genet. 2004, 13:2207.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 2207
    • Perez-Olle, R.1    Jones, S.T.2    Liem, R.K.3
  • 77
    • 72449168333 scopus 로고    scopus 로고
    • Fibulin-5, an integrin-binding matricellular protein: its function in development and disease
    • Yanagisawa H., Schluterman M.K., Brekken R.A. Fibulin-5, an integrin-binding matricellular protein: its function in development and disease. J. Cell Commun. Signal. 2009, 3:337-347.
    • (2009) J. Cell Commun. Signal. , vol.3 , pp. 337-347
    • Yanagisawa, H.1    Schluterman, M.K.2    Brekken, R.A.3
  • 78
    • 33745229355 scopus 로고    scopus 로고
    • Role of integrins in peripheral nerves and hereditary neuropathies Neuro
    • Berti C., Nodari A., Wrabetz L., Feltri M.L. Role of integrins in peripheral nerves and hereditary neuropathies Neuro. Nueromol. Med. 2006, 8(1-2):8191-8204.
    • (2006) Nueromol. Med. , vol.8 , Issue.1-2 , pp. 8191-8204
    • Berti, C.1    Nodari, A.2    Wrabetz, L.3    Feltri, M.L.4
  • 81
    • 1642390843 scopus 로고    scopus 로고
    • Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11×2-p12 deletion
    • Kim S.M., Chung K.W., Choi B.O., Yoon E.S., Choi J.Y., Park K.D., Sunwoo I.N. Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11×2-p12 deletion. Exp. Mol. Med. 2004, 36:28.
    • (2004) Exp. Mol. Med. , vol.36 , pp. 28
    • Kim, S.M.1    Chung, K.W.2    Choi, B.O.3    Yoon, E.S.4    Choi, J.Y.5    Park, K.D.6    Sunwoo, I.N.7
  • 82
    • 0033985893 scopus 로고    scopus 로고
    • Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies
    • Andersson P.B., Yuen E., Parko K., So Y.T. Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. Neurology 2000, 54:40.
    • (2000) Neurology , vol.54 , pp. 40
    • Andersson, P.B.1    Yuen, E.2    Parko, K.3    So, Y.T.4
  • 83
    • 0037172892 scopus 로고    scopus 로고
    • Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name
    • Li J., Krajewski K., Shy M.E., Lewis R.A. Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology 2002, 58:1769.
    • (2002) Neurology , vol.58 , pp. 1769
    • Li, J.1    Krajewski, K.2    Shy, M.E.3    Lewis, R.A.4
  • 88
    • 84869501779 scopus 로고    scopus 로고
    • How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
    • Kleopa K.A., Abrams C.K., Scherer S.S. How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?. Brain Res. 2012, 1487:198-205.
    • (2012) Brain Res. , vol.1487 , pp. 198-205
    • Kleopa, K.A.1    Abrams, C.K.2    Scherer, S.S.3
  • 89
    • 84881611731 scopus 로고    scopus 로고
    • Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters
    • Viggiano E., Picillo E., Cirillo A., Politano L. Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters. Clin. Genet. 2013, 84:265-270.
    • (2013) Clin. Genet. , vol.84 , pp. 265-270
    • Viggiano, E.1    Picillo, E.2    Cirillo, A.3    Politano, L.4
  • 90
    • 84882939715 scopus 로고    scopus 로고
    • X-linked Charcot-Marie-Tooth disease
    • (17 Suppliment)
    • Scherer S.S., Kleopa K.A. X-linked Charcot-Marie-Tooth disease. J. Peripheral Nerv. Syst. 2012, 3:9-13. (17 Suppliment).
    • (2012) J. Peripheral Nerv. Syst. , vol.3 , pp. 9-13
    • Scherer, S.S.1    Kleopa, K.A.2
  • 91
    • 0032563605 scopus 로고    scopus 로고
    • Functional gap junctions in the schwann cell myelin sheath
    • Balice-Gordon R.J., Bone L.J., Scherer S.S. Functional gap junctions in the schwann cell myelin sheath. J. Cell Biol. 1998, 142:1095-1104.
    • (1998) J. Cell Biol. , vol.142 , pp. 1095-1104
    • Balice-Gordon, R.J.1    Bone, L.J.2    Scherer, S.S.3
  • 92
    • 0034027222 scopus 로고    scopus 로고
    • Mutations in Connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease
    • Abrams C.K., Oh S., Ri Y., Bargiello T.A. Mutations in Connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease. Brain Res. - Brain Res. Rev. 2000, 32:203-214.
    • (2000) Brain Res. - Brain Res. Rev. , vol.32 , pp. 203-214
    • Abrams, C.K.1    Oh, S.2    Ri, Y.3    Bargiello, T.A.4
  • 94
    • 43249098296 scopus 로고    scopus 로고
    • Axon-glial signaling and the glial support of axon function
    • Nave K.A., Trapp B.D. Axon-glial signaling and the glial support of axon function. Ann. Rev. Neurosci. 2008, 31:535-561.
    • (2008) Ann. Rev. Neurosci. , vol.31 , pp. 535-561
    • Nave, K.A.1    Trapp, B.D.2
  • 95
    • 0030035312 scopus 로고    scopus 로고
    • Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses
    • Nicholson G., Corbett A. Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses. J. Neurol. Neurosurg. Psychiatry 1996, 61:43-46.
    • (1996) J. Neurol. Neurosurg. Psychiatry , vol.61 , pp. 43-46
    • Nicholson, G.1    Corbett, A.2
  • 96
    • 0345600908 scopus 로고    scopus 로고
    • The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem
    • Taylor R.A., Simon E.M., Marks H.G., Scherer S.S. The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem. Neurology 2003, 61:1475-1478.
    • (2003) Neurology , vol.61 , pp. 1475-1478
    • Taylor, R.A.1    Simon, E.M.2    Marks, H.G.3    Scherer, S.S.4
  • 98
    • 0031051488 scopus 로고    scopus 로고
    • Connexin 32 in oligodendrocytes and association with myelinated fibers in mouse and rat brain
    • Li J., Hertzberg E.L., Nagy J.I. Connexin 32 in oligodendrocytes and association with myelinated fibers in mouse and rat brain. J. Comp. Neurol. 1997, 379:571-591.
    • (1997) J. Comp. Neurol. , vol.379 , pp. 571-591
    • Li, J.1    Hertzberg, E.L.2    Nagy, J.I.3
  • 102
    • 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
    • Niemann A., Ruegg M., La Padula V., Schenone A., Suter U. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J. Cell Biol. 2005, 170:1067.
    • (2005) J. Cell Biol. , vol.170 , pp. 1067
    • Niemann, A.1    Ruegg, M.2    La Padula, V.3    Schenone, A.4    Suter, U.5
  • 103
    • 70350348361 scopus 로고    scopus 로고
    • GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance
    • Niemann A., Wagner K.M., Ruegg M., Suter U. GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. Neurobiol. Dis. 2009, 36:509-520.
    • (2009) Neurobiol. Dis. , vol.36 , pp. 509-520
    • Niemann, A.1    Wagner, K.M.2    Ruegg, M.3    Suter, U.4
  • 110
    • 0035313320 scopus 로고    scopus 로고
    • The myotubularin family: from genetic disease to phosphoinositide metabolism
    • Laporte J., Blondeau F., Buj-Bello A., Mandel J.L. The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet. 2001, 17:221-228.
    • (2001) Trends Genet. , vol.17 , pp. 221-228
    • Laporte, J.1    Blondeau, F.2    Buj-Bello, A.3    Mandel, J.L.4
  • 112
    • 39849096009 scopus 로고    scopus 로고
    • Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization
    • Goryunov D., Nightingale A., Bornfleth L., Leung C., Liem R.K. Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization. J. Neurochem. 2008, 104:1536-1552.
    • (2008) J. Neurochem. , vol.104 , pp. 1536-1552
    • Goryunov, D.1    Nightingale, A.2    Bornfleth, L.3    Leung, C.4    Liem, R.K.5
  • 115
    • 84879394688 scopus 로고    scopus 로고
    • Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes
    • Tazir M., Bellatache M., Nouioua S., Vallat J.M. Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes. J. Peripheral Nerv. Syst. 2013, 18:113-129.
    • (2013) J. Peripheral Nerv. Syst. , vol.18 , pp. 113-129
    • Tazir, M.1    Bellatache, M.2    Nouioua, S.3    Vallat, J.M.4
  • 123
    • 0032940401 scopus 로고    scopus 로고
    • Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33
    • Gabreels-Festen A., van Beersum S., Eshuis L., LeGuern E., Gabreels F., van Engelen B., Mariman E. Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. J. Neurol. Neurosurg. Psychiatry 1999, 66:569-574.
    • (1999) J. Neurol. Neurosurg. Psychiatry , vol.66 , pp. 569-574
    • Gabreels-Festen, A.1    van Beersum, S.2    Eshuis, L.3    LeGuern, E.4    Gabreels, F.5    van Engelen, B.6    Mariman, E.7
  • 133
    • 0028204901 scopus 로고
    • Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment
    • Gillespie C.S., Sherman D.L., Blair G.E., Brophy P.J. Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment. Neuron 1994, 12:497-508.
    • (1994) Neuron , vol.12 , pp. 497-508
    • Gillespie, C.S.1    Sherman, D.L.2    Blair, G.E.3    Brophy, P.J.4
  • 134
    • 0029615322 scopus 로고
    • Periaxin expression in myelinating Schwann cells: modulation by axon-glial interactions and polarized localization during development
    • Scherer S.S., Xu Y.T., Bannerman P.G., Sherman D.L., Brophy P.J. Periaxin expression in myelinating Schwann cells: modulation by axon-glial interactions and polarized localization during development. Development 1995, 121:4265-4273.
    • (1995) Development , vol.121 , pp. 4265-4273
    • Scherer, S.S.1    Xu, Y.T.2    Bannerman, P.G.3    Sherman, D.L.4    Brophy, P.J.5
  • 135
    • 0034681351 scopus 로고    scopus 로고
    • A tripartite nuclear localization signal in the PDZ-domain protein l-periaxin
    • Sherman D.L., Brophy P.J. A tripartite nuclear localization signal in the PDZ-domain protein l-periaxin. J. Biol. Chem. 2000, 275:4537-4540.
    • (2000) J. Biol. Chem. , vol.275 , pp. 4537-4540
    • Sherman, D.L.1    Brophy, P.J.2
  • 136
    • 0034968820 scopus 로고    scopus 로고
    • Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy
    • Sherman D.L., Fabrizi C., Gillespie C.S., Brophy P.J. Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy. Neuron 2001, 30:677-687.
    • (2001) Neuron , vol.30 , pp. 677-687
    • Sherman, D.L.1    Fabrizi, C.2    Gillespie, C.S.3    Brophy, P.J.4
  • 138
    • 84863422813 scopus 로고    scopus 로고
    • Drp2 and periaxin form Cajal bands with dystroglycan but have distinct roles in Schwann cell growth
    • Sherman D.L., Wu L.M., Grove M., Gillespie C.S., Brophy P.J. Drp2 and periaxin form Cajal bands with dystroglycan but have distinct roles in Schwann cell growth. J. Neurosci. 2012, 32:9419-9428.
    • (2012) J. Neurosci. , vol.32 , pp. 9419-9428
    • Sherman, D.L.1    Wu, L.M.2    Grove, M.3    Gillespie, C.S.4    Brophy, P.J.5
  • 139
    • 84876801207 scopus 로고    scopus 로고
    • Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth
    • Sevilla T., Martinez-Rubio D., Marquez C., Paradas C., Colomer J., Jaijo T., Millan J.M., Palau F., Espinos C. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. Clin. Genet. 2013, 83:565-570.
    • (2013) Clin. Genet. , vol.83 , pp. 565-570
    • Sevilla, T.1    Martinez-Rubio, D.2    Marquez, C.3    Paradas, C.4    Colomer, J.5    Jaijo, T.6    Millan, J.M.7    Palau, F.8    Espinos, C.9
  • 141
    • 84876801207 scopus 로고    scopus 로고
    • Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth
    • Sevilla T., Martinez-Rubio D., Marquez C., Paradas C., Colomer J., Jaijo T., Millan J.M., Palau F., Espinos C. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. Clin. Genet. 2013, 83:565-570.
    • (2013) Clin. Genet. , vol.83 , pp. 565-570
    • Sevilla, T.1    Martinez-Rubio, D.2    Marquez, C.3    Paradas, C.4    Colomer, J.5    Jaijo, T.6    Millan, J.M.7    Palau, F.8    Espinos, C.9
  • 146
    • 49449098975 scopus 로고    scopus 로고
    • Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration
    • Zhang X., Chow C.Y., Sahenk Z., Shy M.E., Meisler M.H., Li J. Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. Brain 2008, 131:1990.
    • (2008) Brain , vol.131 , pp. 1990
    • Zhang, X.1    Chow, C.Y.2    Sahenk, Z.3    Shy, M.E.4    Meisler, M.H.5    Li, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.